What is mixed genesis nanism. Pituitary dwarfism - types and symptoms. What provokes low growth

The word "nanism" means dwarfism, short stature in translation. Pituitary dwarfism is a disease that develops as a result of a deficiency of "growth hormone" - the growth hormone of the pituitary gland. Pathology is manifested not only by short stature, but also by changes in the state of internal organs and tissues.

Gigantism and dwarfism are both the result of dysfunction of the pituitary gland.

What types of pituitary dwarfism are there?

There are two types of pathology:

• Pituitary dwarfism of pure form. This form of the disease is characterized only by a reduced amount of growth hormone in the blood, as well as the absence of its effect on the development of organs and tissues.
• Mixed form of pituitary dwarfism. In addition to the small amount of growth hormone in the blood, with this form of pathology, there is a deficiency of thyroid hormones and sex hormones, which leads to impaired sexual development.

You can also highlight proportional dwarfism (when the proportions of the body are not violated) and disproportionate dwarfism.

Important. This type of disease is not well understood due to its rarity. Accordingly, each case requires an individual approach to treatment. Self-medication can only do harm.

Symptoms and causes of dwarfism

A newborn child with pituitary dwarfism is no different from a healthy child, he has the same weight and height. One of the first signs of short stature begins to appear at 2–3 years of age. The child's growth begins to slow down, and instead of the prescribed 7–8 cm, the child gains only 3–4 cm in height per year. Nevertheless, children with pituitary dwarfism pathology maintain normal body proportions.

Other symptoms of the pathology of nanism include:

• visual impairment if a tumor is present in the pituitary gland itself or in other surrounding areas of the brain;
• small size of internal organs;
• violation of the development of teeth;
• early appearance of wrinkles and skin aging;
• bradycardia;
• slow process of ossification;
• late change of teeth;
• muffled heart sounds;
• predisposition to arterial hypotension;
• lack of secondary hair growth.

Hypocorticism may appear secondarily.

Dwarfs and midgets - what's the difference?

The intellectual development of children with pituitary dwarfism, as a rule, corresponds to the age norm. However, some peculiarities of the psyche may be noted: isolation, infantilism, decreased self-esteem.

Advice. If you find similar symptoms in a child, do not draw your own conclusions. See a doctor immediately.

The appearance of a child with pituitary dwarfism

In addition to small stature, a child with pituitary dwarfism has a number of appearance features:

• Thin skin, pale and dry skin.
• The muscles are poorly developed.
• Subcutaneous fat is unevenly distributed, more fat accumulates in the thighs, pubis, abdomen, and mammary glands.
• A small, rounded face with a prominent forehead and a slightly flattened nasal bridge.
• Underdevelopment of the genitals.

In the case of a combination of pathologies of the pituitary short stature and hypothyroidism, the patient has disorders in the cardiovascular system. With a severe form of the disease, mental retardation is possible; hair becomes thin and brittle, the skin thickens, becomes cold to the touch; due to dryness of the skin on the palms, the skin peels off, the subcutaneous fat layer is saturated with edematous fluid; as a result, the face is rounded, the eye slits narrow.

How is sexual underdevelopment caused by pituitary short stature manifested?

• In adolescent girls, there is a small size of the labia, which subsequently does not increase, and of the mammary glands; lack of menstruation; lack of hair in the pubic area.
• In adolescent boys, immature genitals, the penis is small, the scrotum is underdeveloped with a possible undescended testicle; in the area of ​​the face, armpits, pubis there is no hair; the voice does not change.

Causes of pathology

The reasons that lead to the development of dwarfism are divided into several categories. The immediate cause is, as already mentioned, a deficiency of growth hormone, but a decrease in the production of this hormone can be caused by various factors.

1. The first category of reasons leading to the development of pituitary dwarfism is the reduced sensitivity (resistance) of tissues to the effect of growth hormone on them. Moreover, the level of growth hormone in the tissues can be absolutely normal.
2. The second category includes genetic factors. If there were cases in a family or close relatives when dwarfism subsequently developed in children born, then with a probability of 50% there is a risk of having children with a similar pathology in the next generation.
3. The third category of reasons includes the inhibited development of the central organs of the endocrine system - the pituitary gland or the hypothalamus. It also includes:

• various viral and bacterial infections of the central nervous system;
• tumors of the central nervous system;
• surgery or radiotherapy at the pituitary or hypothalamic level;
• brain trauma leading to impaired function and blood circulation in the pituitary gland or hypothalamus;
• brain diseases with the development of inflammation of the pituitary gland, leading to a reduced synthesis of growth hormone.

Advice. Do not panic if you suddenly notice a difference in height with your child's peers. You need to undergo an appropriate examination by a doctor to find out the cause of the problem.

Diagnostics of the growth retardation

According to statistics, boys suffer from idiopathic short stature 2 times more often than girls.

In order to make the correct diagnosis of pituitary dwarfism in children and to identify its causes, the specialist needs to regularly measure the height and weight of the child, and then compare the data.

Note. An X-ray of the hands can be used to calculate the bone age of the patient. Also, this procedure allows you to determine the final growth of a patient with short stature.

X-ray of the skull makes it possible to suspect the presence of a pituitary tumor due to a change in the configuration of the sella turcica.

If you suspect that a child has hormonal deficiency, an analysis is prescribed to determine the level of hormones in the blood. The level of some hormones is easier to determine, while others are more difficult. For example, the content of thyroxine in the blood can be measured directly. But the determination of the content of growth hormone is more laborious, since the indicators change during the day. This is why multiple blood tests need to be done.

However, to date, more effective diagnostic methods have been developed - tests with stimulation of growth hormone secretion. These tests are carried out using insulin injections, so the analysis should be carried out under the supervision of an experienced physician.

Advice. Don't trust one doctor's opinion. Before taking any drastic measures, consult with several endocrinologists. It is also advisable to consult a geneticist, neurologist (neurosurgeon), gynecologist or andrologist.

What data does a doctor need to make a correct diagnosis:

• study of patient complaints;
• medical history;
• a survey about the mother's pregnancy;
• the growth and weight of the baby at birth;
• the presence of a birth injury;
• child development in infancy;
• baby food in infancy;
• the presence of lingering illnesses;
• the nature of the growth of the parents;
• features of sexual maturation in the father and mother;
• measuring the length of the limbs and the height of the child.

Treatment of pituitary dwarfism in children

Treatment options and their effectiveness usually depend on the cause of dwarfism. In most cases, it is impossible to have any effect on the growth and development of the child.

Important! If the primary source of dwarfism lies in the low production of the required growth hormones by the pituitary gland, the doctor may prescribe hormone replacement treatment, which will help slow the development of the disease. Thanks to this, an adult who has undergone a course of treatment on time can have normal growth.

The main drug in hormone therapy is somatotropin, the use of which is especially effective at the age of 13-14 years. To accelerate the growth and development of the skeleton, muscle tissue, children under 18 years of age can be prescribed anabolic steroids.

During the period of sexual maturation, adolescents may be prescribed the introduction of sex hormones - estrogen and gonadotropin. Depending on the characteristics with which the disease proceeds, drugs can additionally be used to eliminate circulatory pathologies; restorative treatment; thyroid hormones.

If a pituitary tumor is detected, it is promptly removed or a course of radiation therapy is performed.

In the event that signs of pathology are detected on time, the patient has every opportunity to achieve normal growth and live fully.

Advice. If your child has been diagnosed with pituitary dwarfism, do not despair. Timely diagnosis and hormone replacement therapy will help ensure normal physical and intellectual development.

Methods for the prevention of stunting syndrome

There are no generally accepted preventive measures to prevent the appearance of dwarfism. In addition to general health recommendations (prevention of infections, proper nutrition, etc.), genetic counseling is important during pregnancy planning.

The term "pituitary nanism" (from the Greek nanos - dwarf; synonym: dwarfism, nanosomy, microsomia) in the absolute sense means a disease, the main manifestation of which is a sharp growth retardation associated with a violation of the secretion of growth hormone by the anterior lobe of the pituitary gland.

In a broader sense, nanism is a violation of growth and physical development, the occurrence of which can be caused not only by an absolute or relative deficiency of growth hormone due to the pathology of the pituitary gland itself, but also with a violation of the hypothalamic (cerebral) regulation of its functions, defects in the biosynthesis of growth hormone, disorders of tissue sensitivity to this hormone.

ICD-10 code

E23 Hypofunction and other disorders of the pituitary gland

E34.3 Short stature [dwarfism], not elsewhere classified

Causes of dwarfism

Most forms of pituitary dwarfism are genetic diseases. The most common is panhypopituitary dwarfism, which is inherited predominantly in a recessive manner. It is believed that there are 2 types of transmission of this form of pathology - autosomal and through the X chromosome. With this form of nanism, along with a defect in the secretion of growth hormone, the secretion of gonadotropins and thyroid-stimulating hormone is most often upset. ACTH secretion is impaired less frequently and to a lesser extent. Functional studies with releasing hormones, including synthetic somatotropin-releasing hormone (consisting of 29, 40 and 44 amino acid residues), similar to the pancreatic polypeptide, have shown that most of these patients have pathology at the level of the hypothalamus, and anterior lobe insufficiency the pituitary gland is secondary. The primary pathology of the pituitary gland itself is less common.

Genetic nanism with isolated deficiency of growth hormone, with a violation of its biological activity and sensitivity to it in Russia and neighboring countries occurs sporadically. It is more common on the American continent, in the countries of the Near and Middle East and in Africa. Based on the results of a study of the level of growth hormone in the blood and the sensitivity of patients to exogenous growth hormone, the level of immunoreactive insulin (IRI), insulin-like growth factors (IRF) of type I (somatomedin C) and type II and the reaction of IRF-1 to treatment with drugs of growth hormone, various variants of clinically similar types of nanism.

Recently, the pathogenesis of Laron's nanism, which is caused by a deficiency of IRF-1 and IRF-II, has been deciphered, as well as the pathogenesis of dwarfism in African pygmies, associated with the deficiency of the former.

In 1984, a new version of pseudo-pituitary dwarfism with a high level of growth hormone and IRF-1 was described; the genesis of nanism is explained by a defect in receptors for it, which is proved by a sharp decrease in the binding of skin fibroblasts to IGF-1.

It should be emphasized that in modern conditions in the presence of small families, many single ("idiopathic", sporadic) cases of the disease can also be genetic.

When analyzing 350 case histories, the etiology of dwarfism was unclear in 228 patients (65.2%). This group included patients from 57 families with repeated incidence of nanism (2-4 cases per family), which accounted for 28% of all patients. In 77% of families with etiologically unclear (mostly genetic) forms of nanism, an undoubted connection with the inheritance of the absence of the Rh factor has been established. The distribution of the Rh factor in the families of patients with nanism differs from that observed in the Rh conflict between the mother and the fetus and, as a rule, is not accompanied by hemolytic disease of newborns (the father may be Rh negative, and if the parents are heterozygous for Rh, children, etc.). etc.). It can be assumed that the activity of genes responsible for the synthesis of somatotropic hormone (or somatotropin-releasing hormone) and genes that determine Rh-affiliation can be assumed, especially since most forms of nanism and the absence of the Rh factor are autosomal recessive signs. This does not explain the relative rarity of the incidence of nanism compared to the incidence of Rh-negative individuals in the population. Probably, some still unknown additional factors are important, however, the features of the distribution of the Rh factor in the families of patients with familial and sporadic nanism are hardly accidental.

A large group of patients with nanism (primary cerebral, cerebral-hypophyseal) consists of patients with various types of organic pathology of the central nervous system that have arisen in utero or in early childhood. The anatomical substrate causing this pathology may be underdevelopment or absence of the pituitary gland, its dystopia in the formation of the sella turcica, cystic degeneration of the pituitary gland, its atrophy due to compression by a tumor (craniopharyngioma, chromophobic adenoma, meningioma, glioma). Dwarfism can be caused by traumatic injuries of the hypothalamic-pituitary region (intrauterine, birth or postnatal), which often occurs during multiple pregnancies, as well as during delivery in breech presentation, breech presentation, or in a transverse position with a turn on the leg (this is the mechanism of childbirth in more than 1 / 3 patients with nanism). Infectious and toxic injuries are important (intrauterine viral infections, tuberculosis, syphilis, malaria, toxoplasmosis; diseases at an early age, neonatal sepsis, meningo- and arachnoencephalitis, etc.). These processes can damage the pituitary gland itself, the hypothalamic centers regulating its function, disrupt normal functional connections in the central nervous system.

Intrauterine fetal lesions can lead to the birth of patients with "dwarfism from birth" with normal secretion of growth hormone (cerebral primordial dwarfism, microcephaly, Silver-Russell dwarfism with hemiasymmetry of the body and high levels of gonadotropins, etc.).

Additional factors that aggravate the impairment of physical development with dwarfism may be inadequate nutrition, unbalanced in the main ingredients (protein deficiency) and microelements (zinc deficiency) and unfavorable environmental conditions, as well as various chronic diseases, such as glomerulonephritis, in which azotemia affects activity liver receptors or directly affects the metabolism of hepatic cells, causing a decrease in the synthesis of somatomedin or cirrhosis of the liver, when the formation of somatomedin is impaired.

Pathogenesis

In most patients with pituitary dwarfism, the changes are not limited only to the pathology of the secretion of growth hormone and sensitivity to it, but spread to other tropic hormones of the pituitary gland, which causes various combinations of endocrine and metabolic disorders.

With isolated deficiency of growth hormone, morphological changes in the pituitary gland have been little studied. In the cases studied, pathological disorders were rarely found (craniopharyngioma or hyperostosis of the skull bones). With this type of nanism, congenital underdevelopment of peptidergic cells or a defect in the neurotransmitter system in the hypothalamus can be observed. In such cases, a combination of nanism with dysplasia or hypoplasia of the optic nerves is possible. Intrasellar cysts, tumors of the pituitary gland and hypothalamus, which cause compression of the pituitary tissue, in particular somatotrophs, lead to STH deficiency.

With dwarfism, thinning of the bones is noted, mainly due to the cortical layer, delay in differentiation and ossification of the skeleton. Internal organs are hypoplastic, sometimes atrophic, muscles are poorly developed.

Symptoms of dwarfism

A sharp lag in growth and physical development are the main manifestations of pituitary dwarfism. Patients are born with normal weight and body length and begin to lag behind in growth from 2-4 years of age.

Before the advent of active therapy for nanism, the growth of women less than 120 cm and men 130 cm was considered dwarf. Currently, the growth of a dwarf differs by at least 2-3 sigma deviations from the average tabular norm for a given sex, age, population. There is also a method for graphically assessing growth based on a Gaussian distribution curve. In this case, dwarfs in height fall into the group that includes the minimum number of persons in the corresponding population with the greatest lag behind the average growth rate.

For pituitary dwarfism, not only small absolute body dimensions are characteristic, but also a small annual dynamics of growth and physical development. The physique is proportional, but the proportions of the patient's body are characteristic of childhood. The skin is pale, often with a yellowish tinge, dry, which is due to absolute or relative thyroid insufficiency, sometimes there is cyanosis - "marbling" of the skin. In untreated patients, old-looking and wrinkled skin (geroderma) appears early. This is due to the lack of anabolic action of STH and a slow change in cell generations.

Hair on the head can be both normal and dry, thin, brittle; long eyelashes are characteristic. Secondary hair growth is often absent. The size of the sella turcica in the majority of patients with nanism (70-75%) is not changed, but the saddle often retains the childish form of a "standing oval", has a wide "juvenile" back, the sinus of the main bone lags behind in terms of pneumatization. However, there are patients with enlargement of the sella turcica, which is a sign of a tumor; with areas of calcification on its background or in the area of ​​the entrance (with craniopharyngioma, residual phenomena of neuroinfection) or its decrease (signs of underdevelopment, small size of the pituitary gland). There are symptoms of intracranial hypertension: thinning of the bones of the cranial vault, increased vascular pattern, the presence of digital impressions, etc. The most important sign of pituitary dwarfism is a delay in the differentiation and ossification of the skeleton. In close connection with the differentiation of the skeleton, there are also the features of the dentoalveolar system: there is a late change of milk teeth. The greatest lag in the development of the skeletal system is observed in patients with dwarfism with sexual failure and hypothyroidism.

The genitals in most patients are sharply underdeveloped, although malformations are rare. We observed cryptorchidism in 5.8% of male patients. Sexual failure is accompanied by underdevelopment of secondary sexual characteristics and a decrease in sex drive, the absence of menstruation. Normal spontaneous sexual development is observed only in patients with isolated growth hormone deficiency and in some patients with cerebral dwarfism.

Thyroid insufficiency is a fairly common sign of dwarfism. It should be noted that the external manifestations of hypothyroidism do not always reflect the true functional state of the thyroid gland. This is due to relative hypothyroidism due to a violation of the transition of thyroxine (T 4) to triiodothyronine (T 3) and the formation of inactive (reversible) T 3, which is characteristic of somatotropic insufficiency.

Adrenocorticotropic function with pituitary dwarfism decreases less often and to a lesser extent than sexual and thyrotropic, and in most patients does not require special correction.

In most cases, the intellect is not impaired. There are emotional changes in the form of mental infantilism; in older patients without intellectual impairment, reactive neuroses are sometimes noted.

With organic cerebral pathology, especially of a tumor nature, nanism can occur with symptoms of diabetes insipidus, bitemporal hemianopsia and intellectual impairment.

The study of the formation of the bioelectric activity of the brain in patients without organic symptoms from the central nervous system showed that the EEG in them is characterized by features of immaturity, long-term preservation of a high "child" voltage of the EEG; uneven alpha rhythm in amplitude and frequency; a sharp increase in the content of slow θ- and δ-rhythms, especially in the frontal and central leads; a clear reaction to hyperventilation; a shift in the range of EEG rhythms to the rhythms of light stimulation towards low frequencies (evidence of a decrease in the functional mobility of the nervous structures of the brain). It was revealed that in older patients the immature nature of the brain electroactivity is due to sexual underdevelopment, and in patients of all age groups - hypothyroidism.

The carbohydrate metabolism of patients with dwarfism is characterized by a tendency to a decrease in fasting blood glucose, its rise during exercise, endogenous insulin deficiency, increased sensitivity to exogenous insulin with frequent development of hypoglycemic states. The latter is explained mainly by the insufficient content of counterinsular hormones in the body of patients.

On the part of the internal organs, splanchnomikria is noted - a decrease in their size. Functional changes of internal organs specific for nanism have not been described. Arterial hypotension is often observed with a decrease in systolic and diastolic pressure, a decrease in pulse amplitude. Heart sounds are muffled, functional noises of different topics are heard in connection with trophic changes in the myocardium and autonomic disorders. ECGs are characterized by low voltage (especially in the presence of hypothyroidism), sinus bradycardia, or bradyarrhythmia; for PCG - a decrease in the amplitude of tones, additional tones, functional noises. Oximetry data indicate hypoxemia (baseline and during exercise), oxygen debt. In older patients, hypertension sometimes develops.

Diagnosis of dwarfism

The diagnosis and differential diagnosis of dwarfism is based on data from anamnesis and a comprehensive clinical and radiological, laboratory and hormonal examination. In addition to the absolute size of the body, to assess the growth of patients, the growth deficit is determined - the difference between the patient's height and his average norm for the corresponding sex and age; growth age - compliance of the patient's growth with certain standards; standardized deviation indicator

I = M - Mav / δ, where M is the patient's height, Mav is the average normal height for a given sex and age, δ is the squared deviation from Mav; And less than 3 - typical for nanism, And more than 3 - for gigantism. This indicator can be used to assess the dynamics of development.

X-ray examination of patients with nanism reveals the presence of signs of intracranial hypertension, residual effects of neuroinfection, calcifications, craniostenosis. The study of the size, shape and structure of the Turkish saddle is considered as an indirect indicator characterizing the size of the pituitary gland. One of the most important manifestations of pathological growth retardation is impaired skeletal differentiation. To assess the degree of maturity of the skeleton, determine the bone (radiological) age, which corresponds to the differentiation of bone tissue; ossification deficiency (ossification) - the degree of ossification lag from the norm (in years), ossification coefficient - quotient from dividing bone age into chronological and other parameters.

Modern diagnostics of nanism is impossible without studying the secretion of growth hormone, its basal level, circadian rhythm, and release under stimulation conditions. For most patients with pituitary dwarfism, a reduced content of growth hormone in the blood serum is characteristic. When determined by the radioimmunoassay method, it is (according to different authors) from (0.87 ± 0.09) to (1.50 ± 0.64) ng / ml, with an average rate of (3.81 + 0.29) ng / ml. The study of circadian rhythms of the secretion of growth hormone showed that its level in healthy people is maximum during the first 2 hours of sleep and at 4-6 hours. With dwarfism and during these hours, the content of growth hormone is reduced.

To study the reserves of somatotropic function, various stimulants are used, examining the content of somatotropic hormone before and after their administration. Blood for research is taken for 2-3 hours every 30 minutes. The normal release of growth hormone after stimulation is not less than 7-10 ng / ml, sometimes it reaches 20-40 ng / ml. If there is no reaction in one of the samples, repeated tests are carried out with other stimulants. Insufficiency of growth hormone is considered proven in the absence of growth hormone release in 2-3 different samples.

The following stimulating tests are most commonly used: with the intravenous administration of 0.1 U (0.75-1.5 U) insulin per 1 kg of the patient's body weight and reaching hypoglycemia (reducing the blood glucose level by 50% to the initial level), the serum somatotropic hormone is determined by the above diagram. With the development of severe hypoglycemia, the test is interrupted, the patient is injected with glucose intravenously. This is the most common, classic diagnostic method.

TRH at a dose of 200-500 mcg intravenously. Effectively reveals hormone reserves, does not give complications. In combination with an insulin test, it allows one to judge the level of damage to the hypothalamic-pituitary system. A positive reaction to TRH in its absence for insulin hypoglycemia indicates the intactness of the pituitary gland and damage at the hypothalamic level, negative reactions to TRH and hypoglycemia - about the defeat of the pituitary gland itself.

TRH, LH-RG at a dose of 300 μg intravenously is similar to the previous one.

Human SRH is a synthetic analogue of a biologically active compound isolated from a pancreatic tumor. Currently, there are 3 types of synthetic SRH: with 29, 40 and 44 amino acid residues. Applied intravenously in doses from 1 to 3 μg / kg of the patient's body weight. The release of STH is observed 15-20 minutes after administration, the test reveals the reserves of endogenous growth hormone more efficiently than others. A positive STH reaction indicates a hypothalamic level of lesion of the somatotropic function and the intactness of the pituitary gland; with amino acids (L-arginine monochloride, ornithine, tryptophan, glycine, leucine) intravenously at a dose of 0.25-0.5 g per 1 kg of the patient's body weight. Effective for studying STH reserves. May cause allergic reactions.

L-dopa orally at a dose of 250-500 mcg. Effective, well tolerated by patients.

Also used are tests with glucagon, bromergocriptine (parlodel), lysine-vasopressin, clonidine, with a dosed cycle ergometric load.

The study of the state of somatotropic function is necessary not only for the diagnosis of dwarfism, but also for a reasonable choice of the method of therapy, since treatment with somatotropin is rational only with a deficiency of endogenous growth hormone.

To diagnose the form of nanism, it is very important to study the content of insulin-like growth factors, or somatomedins (especially IRF-1, or somatomedin C) - mediators of the action of somatotropic hormone at the tissue level. It is known that the content of somatomedin C in nanism is reduced, and in acromegaly it is increased compared to the norm. The form of nanism, described by Laron, is a type of disease with normal production of STH, but with a violation of the formation of IRF-1 and IRF-P. Treatment of such patients with growth hormone is futile.

Indirect indicators of the somatotropic function of the pituitary gland are the activity of alkaline phosphatase and the content of inorganic phosphorus in serum. In hyposomatotropic states, these indicators are reduced. In the panhypopituitary form of dwarfism, the secretion of gonadotropins, often TSH, is reduced, which is accompanied by a corresponding decrease in the functions of the gonads (lack of androgens or estrogens), the thyroid gland (a drop in the levels of T 3, T 4, protein-bound iodine - SBI, accumulation of 131 I by the thyroid gland), adrenal glands ( decrease in the amount of cortisol and 17-OCS in plasma, excretion of 17-KC and 17-OCS in the urine, lymphocytosis).

For all types of pituitary (hypothalamic-pituitary) genetic nanism, repeated disease of children in a family with inheritance in an autosomal recessive (more often) or autosomal dominant type, growth retardation and physical development from 2-4 years with a lag of at least 2 3 о from the average growth rates for a given sex, age, population, with low spontaneous annual growth dynamics, delayed ossification. With a low level of growth hormone (in 2-3 stimulating tests below 7 ng / ml), growth hormone therapy is highly effective (gives an increase in growth of at least 7 cm per year). With a normal or high level of growth hormone (with its biological inactivity), sensitivity to the hormone can be preserved. There are no changes in intelligence

With genetic nanism with tissue insensitivity to growth hormone, the clinical picture is similar to isolated growth hormone deficiency, but growth hormone therapy is ineffective. In this group, according to the level of IRF, the following main forms can be distinguished: with their normal content (defect in receptors for IRF) and reduced - nanism of the Laron type (deficiency of IRF-1 and IRF-P) and the type identified in African pygmies (deficiency of IRF-1 ).

Cerebral dwarfism is characterized by isolated diseases in the family associated with intrauterine or postnatal damage to the central nervous system, with the presence of obvious organic changes in the central nervous system, often combined with pathology of the organ of vision, the presence of diabetes insipidus, the preservation of gonadotropic functions, and changes in intelligence.

Some types of dysgenesis and agenesis of the gonads, in particular Shereshevsky-Turner syndrome and the "turneroid" (mosaic) form of testicular dysgenesis syndrome, are accompanied by pronounced short stature. In differential diagnosis, cytogenetic studies (sex chromatin, karyotype) help, revealing chromosomal defects, as well as characteristic malformations of somatic and sexual development, normal or increased levels of endogenous growth hormone and insensitivity to treatment with somatotropin.

Among the endocrine disorders occurring with short stature, one should single out primary hypothyroidism caused by congenital hypoplasia or aplasia of the thyroid gland, its dystopia, enzyme defects in the biosynthesis of thyroid hormones, and early autoimmune damage to the thyroid gland. In all these conditions, signs of hypothyroidism with a high level of TSH, a decrease in T 4 and T 3 in the blood serum dominate. With myxedema of autoimmune genesis, antibodies to thyroglobulin, microsomal and nuclear fractions of thyroid tissue are found in the blood, the level of growth hormone is normal or reduced. The clinical effect can only be achieved by compensating for hypothyroidism.

Short stature is accompanied by premature sexual development and adrenogenital syndrome due to early closure of growth zones; Itsenko-Cushing's disease, which arose in childhood due to the inhibitory effect of glucocorticoids on the secretion of growth hormone and their catabolic effect; Moriak's syndrome - short stature and infantilism of patients with severe insulin-dependent diabetes mellitus.

Pituitary dwarfism should be differentiated from somatogenic retardation of physical development caused by chronic metabolic disorders (with diseases of the liver, kidneys, gastrointestinal tract), chronic hypoxia (with diseases of the cardiovascular and respiratory systems, with anemia); with systemic diseases of the musculoskeletal system (chondrodystrophy, osteogenesis imperfecta, exostotic disease), etc.

Functional (constitutional) growth retardation is sometimes observed with late onset of puberty in apparently healthy adolescents; we found that it is associated primarily with transient insufficiency of gonadotropic activity. The secretion of growth hormone is usually not impaired or slightly reduced. Stimulation of gonadotropins can cause acceleration of both sexual development and growth.

The short stature of a family character should be considered as a variant of physiological development.

Dwarfism treatment

Treatment for dwarfism is a lengthy process. This forces the doctor to distribute the means of influencing growth over time so as to obtain the greatest clinical effect, while observing 2 basic principles:

• maximum approximation of treatment-induced development to physiological conditions;
• sparing the epiphyseal growth zones.

Long-term experience in the treatment of dwarfism allows us to consider the following scheme of staged therapy expedient. The diagnosis of dwarfism in adult patients is usually not in doubt. In young children, when the clinical picture is unclear, a diagnostic period is required: 6-12 months under observation without hormone therapy. At this time, a comprehensive restorative treatment is prescribed; good nutrition with an increase in the content of animal protein, vegetables and fruits in the diet, vitamins A and D, calcium and phosphorus preparations. The absence, against this background, of sufficient shifts in growth and physical development and the identification of endocrine disorders during examination are the basis for starting hormone therapy.

The main type of pathogenetic therapy for pituitary dwarfism is the use of human growth hormone, since the dependence of the occurrence of most cases of dwarfism on one form or another of its insufficiency is undoubted. Due to the species specificity inherent in this hormone, only human and primate somatotropin is active for humans. A drug isolated from the pituitary gland of people who died from non-infectious and non-neoplastic diseases is widely used in the clinic. Human somatotropin was obtained by bacterial synthesis using Escherichia coli by genetic engineering. Human somatotropin is also synthesized chemically, but it is extremely expensive and is practically not used in the clinic. For treatment with somatotropin, patients are selected with proven deficiency of endogenous growth hormone, with skeletal differentiation not exceeding the level characteristic of 13-14 years. There is no age limit for treatment.

The minimum effective doses that can be used in the first period of treatment are 0.03-0.06 mg / kg of body weight. The most effective doses are 2-4 mg 3 times a week. An increase in a single dose to 10 mg was not accompanied by an adequate increase in the growth effect, but caused a rapid formation of antibodies to somatotropin.

In our country, work on the study of human growth hormone has been carried out since 1960. Two treatment regimens have been tested: continuous and intermittent with courses of 2-3 months and the same intervals between them. The average increase in the growth of patients for the 1st year of treatment was 9.52 ± 0.39 cm, the increase in body weight was 4.4 ± 0.14 kg. With long-term continuous treatment, the average increase in height - 0.82 cm / month, body weight - 0.38 kg / month; with intermittent - 0.75 cm / month and 0.4 kg / month, respectively. Continuous treatment gave a faster increase in growth with a sharp decrease in the effect after 1-1.5 years, with intermittent treatment, the effectiveness remained for 3-4 years, which makes it possible to consider the course treatment scheme more appropriate. Determination of the level of IGF-I (somatomedin C) can serve as a reliable indicator of the patient's sensitivity to treatment with somatotropin drugs. An increase in the content of IGF-I after the introduction of growth hormone allows predicting a positive effect of therapy. An important advantage of treatment with somatotropin is the absence of accelerated skeletal ossification against its background.

The most important treatment for dwarfism should be considered the use of anabolic steroids, which stimulate growth, enhancing protein synthesis and increasing the level of endogenous growth hormone. Treatment is carried out over several years, with the gradual replacement of some drugs by others, from less active to more active compounds. The change of anabolic drugs is indicated with a decrease in the growth effect after 2-3 years, which leads to an additional increase in growth. Treatment is carried out in courses (the rest period should be half of the treatment period). With addiction, longer breaks are shown (up to 4-6 months). Only one of the anabolic steroids is prescribed at a time. Combining 2 or more drugs is impractical, since this does not enhance their metabolic and growth effects. The latter depends primarily on the age of the patients and the degree of differentiation of the bones of the skeleton at the start of treatment. The best effect is observed in patients under 16-18 years of age with skeletal ossification not exceeding the level characteristic of 14 years of age. It is advisable to start treatment immediately after the diagnosis is made, usually from 5-7 years of age. Before treatment, you should avoid the appointment of gonadotropins and sex hormones, which, while stimulating growth, at the same time accelerate the differentiation of the skeleton. The principle of dosing of anabolic steroids is from minimal effective doses to gradually increasing ones. Recommended doses of the most common drugs: nerobol (methandrostenol, dianabol) - 0.1-0.15 mg per 1 kg of body weight per day orally; nerobolil (durabolin) - 1 mg per 1 kg of body weight per month intramuscularly, a monthly dose is administered in 2-3 doses, respectively, after 15 or 10 days; retabolil (deca-durabolin) - 1 mg per 1 kg of body weight 1 time per month intramuscularly. Exceeding the indicated doses can lead to androgenization. In physiological doses, these compounds do not significantly affect the condition of the genital organs and the differentiation of the bones of the skeleton, which makes it possible to use them for long-term patients of both sexes. Girls should be under the supervision of a gynecologist, since in case of an overdose or with increased individual sensitivity, some patients may show signs of virilization, which quickly regress when treatment is canceled. Oral preparations methylated in ethylated in the 17 position can sometimes cause a cholestatic effect, therefore, in liver diseases, preference should be given to anabolic compounds for parenteral use, or oral medications should be combined with choleretic agents. Very rarely, treatment with anabolic steroids can cause allergic reactions (itching, rash). In the absence of complications, anabolic steroids are used as long as the growth effect is observed (up to 16-18 years, and sometimes longer). Treatment is carried out against the background of restorative therapy.

If patients have signs of hypothyroidism, thyroidin preparations (thyroxin, thyroidin, thyroid) are simultaneously prescribed in individually selected doses.

When treating boys, the next step is the appointment of chorionic gonadotropin. This drug is used no earlier than 15-16 years old, and often at an even later age in order to stimulate Leydig cells, which accelerates both sexual development and growth (due to the anabolic activity of its own androgens). Doses from 1000 to 1500 IU are used 1-2 times a week intramuscularly in courses of 2 months no more than 2-3 times a year. With an incomplete effect, treatment with chorionic gonadotropin in boys aged 16 years and older alternates with the appointment of small doses of androgens (methyltestosterone at a dose of 5-10 mg / day sublingually).

Girls over 16 years of age can begin treatment with low doses of estrogen, while simulating the normal sexual cycle. Treatment is carried out within 3 weeks of each month, followed by a break. In the 2nd phase of the cycle from the 3rd week, you can prescribe chorionic gonadotropin at a dose of 1000-1500 IU 3-5 times a week or drugs with gestagenic action (pregnin, progesterone).

The final stage of treatment (after the closure of growth zones) is the constant appointment of therapeutic doses of sex hormones corresponding to the sex of the patient, with the aim of the full development of the genitals, secondary sexual characteristics, libido and sexual potency. For the treatment of female patients, combined estrogen-gestagenic drugs (non-ovlone, biseurin, infectiousdin, rigevidon) are convenient to use, for male patients, prolonged-acting androgen drugs (testenat, sustanon-250, omnadren-250).

General strengthening treatment is carried out (regimen, protein-vegetable diet, vitamin therapy, biostimulants). The use of zinc preparations has been shown, in the mechanism of action of which the main role is played by an increase in the activity of IGF-1 (insulin-like growth factor I).

In the presence of organic pathology on the part of the central nervous system, anti-inflammatory, resorption, dehydration therapy is performed. Targeted, systematic therapy has a promising effect. Of 175 patients with nanism of both sexes, as a result of long-term staged treatment, 148 (80.4%) managed to achieve a height of more than 130 cm, in 92 (52.5%) - more than 140 cm and in 32 (18.3%) - 150- 160 cm or more. At the same time, the height increased by 30 cm in 37 patients (21.2%), by 31-50 cm - in 107 (61.1%). 51-60 cm and more - in 31 (17.7%).

Forecast

The prognosis depends on the form of nanism. With genetic types of dwarfism, the prognosis for life is favorable. In the presence of a pituitary tumor and organic lesion of the central nervous system, it is determined by the dynamics of the development of the main pathological process. Modern methods of therapy have significantly increased the physical capabilities and work capacity of patients, lengthened their life. During the period of active treatment, patients need to be examined by a doctor every 2-3 months, with maintenance therapy - every 6-12 months.

Employment of patients corresponding to their intellectual and physical abilities is of paramount importance for their social adaptation.

It is advisable to choose professions that are not associated with heavy physical activity, but that allow them to show intellectual abilities, the ability to work accurately, and languages.

Pituitary dwarfism (another commonly used name is dwarfism , as well as microsomia , nanosomy ) is a condition in which there is a serious delay in the growth and physical development of a person. This is due to a lack in the body growth hormone (growth hormone, STH).

This ailment is considered to be very rare. According to various data, the disease affects 1-4 people per 10,000 population. Doctors note that male patients suffer from dwarfism about twice as often as women. It is generally accepted that dwarf growth in men is a height lower than 130 cm.For women, this figure is 120 cm.

Causes

Word " nanism"Comes from the Greek language and in translation means" dwarf". This clinical syndrome manifests itself in humans as a consequence of endocrine and non-endocrine disorders. In the body of patients suffering from dwarfism, there is a violation of the production (the so-called growth hormone) by the anterior lobe of the pituitary gland.

The cause of the manifestation of this disease in humans can be damage due to trauma, tumors, the influence of toxins and infection on the interstitial pituitary region. Sometimes the normal regulation of the functions of the pituitary gland from the outside is disrupted.

The development of the disease is also influenced by genetic factors, loss or decrease in the somatotropic function of the pituitary gland, the lack of biological activity of growth hormone, or impaired sensitivity to this hormone on the part of peripheral tissues.

Pituitary dwarfism is usually attributed to diseases that are genetically inherited. In this case, it is important for a person to know whether his close relatives and ancestors had cases of the disease. Sometimes even old photos or inquiries of relatives will help to recognize the disease in close people.

But doctors also identify a number of factors that can aggravate the situation when a person develops dwarfism. So, pituitary dwarfism in children is often aggravated due to malnutrition, the influence of negative environmental factors, and the presence of certain somatic diseases. Treatment of pituitary dwarfism involves the elimination of such factors.

The cause of the development of dwarfism can be a birth injury to the head, as well as,. Radiation therapy or chemotherapy is sometimes a predisposing factor to dwarfism. However, in about half of the cases, the cause of the development of this pathology has not been clarified.

Signs

So, the main symptom of the disease is considered to be a low growth of a person - below 130 cm in men and below 120 cm in women. So, if a child normally grows by 7-8 cm per year, then with pituitary dwarfism, the child's growth increases by only 3-4 cm per year. It should be noted that constitutional short stature, that is, of a family nature, as well as growth retardation in healthy children, doctors consider as a variant of the norm.

Dwarfism - This is a condition in which there is a very sharp lag in growth and physical development of the body in comparison with the average rates of norms for a certain age. Signs of dwarfism imply not only a pronounced lag, but also a decrease in the annual dynamics of increase in height and weight in such a patient. As a rule, such children have quite normal indicators of both weight and height at birth. But later they have a significant lag behind their peers in these indicators. Sometimes the disease manifests itself from the very first months of life. But still, most often, parents notice the symptoms of dwarfism in children at the age of 2-4 years.

In patients who suffer from nanism, a proportional shape and constitution of the body is noted. But at the same time, such proportions are more consistent with the child's physique. Such people have dry and pale skin. The reasons for this phenomenon are insufficient functioning of the parathyroid glands. If a person does not receive regular and correct treatment, then the skin ages very early, wrinkles appear on them.

Fatty tissue under the skin is also poorly developed, and some patients have excess fat deposits on the abdomen, thighs, and breasts. At the same time, the muscles are very poorly developed. If patients who develop gigantism , muscles are initially strong, and later weaken, then in patients with dwarfism muscle weakness is noted immediately. Most often, such people do not have secondary hair growth. Another important symptom that manifests itself in pituitary dwarfism is a delay in skeletal ossification. This phenomenon determines the late change of milk teeth to permanent ones.

In connection with the loss of the gonadotropic function of the pituitary gland in people with dwarfism, there is a lack of sexual development. If we compare it with age norms, then in men the penis and gonads are reduced, the scrotum is underdeveloped, and there are no secondary sexual characteristics. At the same time, women with pituitary dwarfism have pronounced manifestations of hypogonadism. They may not have menstruation, the mammary glands remain underdeveloped, and secondary sexual characteristics do not appear.

Mental development in such patients meets the criteria of the norm, but sometimes some juvenile traits may appear. In the process of carrying out a neurological examination, it is possible to detect some signs indicating organic damage to the nervous system. The internal organs in such patients are reduced (this phenomenon is called splanchnomics ), they often suffer from manifestations hypotension , bradycardia , muffled heart sounds are noted. Sometimes there are phenomena of secondary hypocorticism .

If nanism has developed in a patient due to organic damage to the brain, then cerebral symptoms are present, intelligence decreases. Often with this condition develops diabetes insipidus .

Diagnostics

Parents may have suspicions about dwarfism in a child in the first months or years of a baby's life. Determining the peculiarities of development, the pediatrician assesses not only the indicators of the child's height and weight, but also their dynamics.

If pituitary dwarfism is suspected, an X-ray examination is prescribed. X-rays of the hands and wrist joints show signs of delayed differentiation and skeletal ossification.

Computed tomography allows you to determine the underdeveloped zones of ossification of the skeleton. With the normal development of the body, bones are formed from cartilage, their ossification takes place gradually. Such processes start from ossification points. They are fully completed when a person turns 20-25 years old. If the production of somatotropin is impaired, then in the study, such points can be determined throughout a person's life.

The patient is assigned laboratory tests. In particular, the insulin test , in which there is no increased secretion of growth hormone (this is typical for the normal state of human health). Sometimes its secretion increases only for a short period and slightly. Other tests are also used to detect the level of growth hormone in the blood. For this purpose, biologically active substances and some medicines are used.

Treatment

Starting the treatment of dwarfism, the doctor must definitely determine the cause that provoked the development of this pathology. If the pituitary dwarfism can be recognized in a timely manner and confirmed the diagnosis, then replacement therapy using growth hormone gives good results. In the process of treatment, a hormone is used, both natural and synthetic.

Treatment growth hormone carried out up to 13-14 years of age of the patient. In this case, the effect of the hormone on the increase in concentration must be taken into account. somatomedinov in the patient's blood, since without somatomedinov the hormone somatotropin has a limited effect. If, after a certain period of treatment, the concentration in the blood increases somatomedinov, one can draw conclusions about the success of therapy.

Increasing the patient's height during treatment is another important criterion. Treatment is considered effective if, after a year of therapy according to a certain scheme, a person grows 8-12 cm.

The drug is taken several times a week for 2-3 months. This is followed by a short break. It is important to adhere to this particular scheme, because long-term use of this hormone in large doses can provoke production in the body. Therefore, an experienced endocrinologist must necessarily control the therapy process.

If the patient has primary processes in the hypothalamus, he is shown treatment somatoliberin which has a stimulating effect on the pituitary gland.

Sometimes steroid hormones are included in the treatment regimen for dwarfism. They cannot completely replace the effect that somatotropin ... However, this treatment allows the growth and development of the skeleton to be activated, and at the same time promotes the production of internal growth hormone. It is advisable to start such therapy with 5-7 years old, however, it should be carried out later than in 18 years, ineffective.

If a patient has a combined form of the disease and there is a shortage of other types of hormones in the body, then in parallel with somatotropin, synthetic analogs of those hormones, the shortage of which is observed, are taken.

In case of insufficiency of the functions of the thyroid gland, it is prescribed. If there is a need to adjust the functions of sex hormones, then in adolescence, patients are prescribed special medications. Male patients are assigned an appointment chorionic gonadotropin or . The girls are shown a reception, or chorionic gonadotropin ... If there is a dysfunction CNS, the patient is prescribed vascular drugs. Sometimes it is necessary to carry out dehydration, resorption treatment.

Patients with pituitary dwarfism should eat well. The diet should contain as many products containing the animal as possible. protein, calcium, phosphorus, all groups of vitamins.

Pituitary dwarfism, provoked by tumors of the brain, pituitary, hypothalamus, is more difficult to treat, since access to the localization of the tumor is very difficult. Such people often get a disability due to limited physical abilities.

But in general, the prognosis of the disease is mainly determined depending on the cause of the disease. If there are certain genetic defects or hereditary transmission of the disease, then the correct approach to treatment helps to stop the process of its development. People whose treatment began in a timely manner can subsequently significantly increase in growth.

The doctors

Medicines

Prophylaxis

There are no effective preventive measures to prevent dwarfism. However, the influence of harmful factors ( poisons, toxins and others) in the period and subsequent. The development of the disease can be affected by injuries received during. The child should be provided with the most complete nutrition, the diet should contain foods high in vitamins and minerals. It is important to treat all somatic diseases of the body in a timely manner.

The growth of a child is influenced by many factors - heredity, nutrition, past diseases, endocrine disruptions, congenital developmental anomalies. Stunting by two average deviations from the norm is called stunted stature. Nanism in children is diagnosed if the child begins to significantly fail to gain the centimeters prescribed by age and his height becomes smaller by three or more average deviations from the norm. Boys are slightly more susceptible to this ailment than girls. No race or age dependencies have been identified.

Why does a child's growth slow down?

Nanism evolves for many reasons. They are divided into 3 groups:

1. Endocrine - deficiency of growth hormones, thyroid gland, insulin, sex hormones or their excess, increased production of glucocorticoids in the adrenal cortex
2. Somatic (not related to the endocrine system) - chronic hypoxia, anemia, disturbances in the process of absorption of nutrients, diseases of the kidneys, liver, skeletal system, disorders in genetics and chromosomes, for example, Down's syndrome is accompanied by growth retardation
3. Development features - small growth of all family members, late puberty

However, the main responsibility still rests with the growth hormone, which is synthesized by the pituitary gland. Such a lag in the increase in the size of bones and organs is called pituitary dwarfism.

Causes of pituitary dwarfism and its types

A signal to the anterior lobe of the pituitary gland about the need to synthesize growth hormone (somatotropin or STH) is sent from the hypothalamus. After that, the mechanism of distribution and assimilation of growth hormone by bones, organs, tissues and muscles is started. If a failure occurs at any link in this chain, then the child stops growing. Depending on the reasons that caused the pituitary dwarfism in children, the disease has 3 types:

• congenital deficiency of growth hormone - arises from heredity, abnormalities in the structure and development of the hypothalamus or pituitary gland, insufficient production in the hypothalamus of stimulants for the synthesis of growth hormone;
• acquired growth hormone deficiency - arises from brain tumors, trauma, infectious and vascular diseases of the central nervous system, toxic poisoning, radiation exposure;
• growth hormone is produced, but is biologically inactive, or it is not perceived by bones, organs or tissues

How to recognize pituitary dwarfism

At birth, the child has no deviations in the parameters of physical development. Only at 2-3 years old children begin to lag sharply behind their peers in growth, while all parts of the child's body remain proportionally developed - they just stop growing.

Other signs appear:

• the growth rate slows down - it becomes less than 4 cm per year;
• maturation of bone tissue slows down;
• the face takes on a puppet expression - the features become small, the bridge of the nose sinks, the shape is round;
• hair is thinning;
• the voice becomes high;
• overweight often appears;
• hypopituitarism can be observed - a syndrome characteristic of a decrease in the production of all hormones by the pituitary gland;
• in adolescents, the process of puberty slows down - it begins when the formation of bone tissue ends;
• blurred vision, nausea, headaches with brain tumors.

A few words about hypopituitarism

In the anterior pituitary gland, 6 hormones are produced. Growth hormone is responsible for human growth, adrenocorticotropin extinguishes stress and stimulates cardiac activity, prolactin, follitropin and lutropin regulate puberty and fertility, thyrotropin triggers the synthesis of thyroid hormones. If hypopituitarism develops, then the synthesis of all hormones decreases. The complete stop of hormone production is called panhypopituatarism. That is why, with pituitary dwarfism, changes in the body are present or manifest over time, characteristic of a deficiency of all hormones produced by the pituitary gland, for example:

• slowing down puberty;
• lag in mental and physical development - with a decrease in the production of thyrotropin.

Diagnosis of the disease

At the first suspicion of dwarfism developing in a child, it is necessary to consult a doctor. The examination is carried out by a pediatrician, geneticist, orthopedist, neuropathologist. The following methods are used to make a diagnosis:

1. Examination of the child, measurement and comparison of body parameters with age norms - a slowdown in growth rates by 4 cm is revealed with normal proportions of the whole body
2. Interviewing parents about existing symptoms, as well as their dynamics
3. Determination of bone age - there is a 2-year lag from the chronological age, detected by bone x-ray
4. Blood test for the amount of growth hormone
5. Brain examination - X-ray, MRI, computed tomography - is performed to identify brain tumors in the pituitary gland, to determine the parameters of the Turkish saddle, which is reduced with pituitary dwarfism

When making a diagnosis, it is very important to differentiate, that is, to distinguish the disease from other ailments. It is necessary to exclude the presence of family short stature, in which all indicators, except for height, are within the normal range. If a child was born with a weight of less than 1500 g, then throughout his life the slowed down rates of development, including growth retardation, will remain, while other deviations will not be observed. It is necessary to identify or refute the presence of diseases not related to the endocrine system, pathologies of the musculoskeletal system, chromosomal syndromes in which growth slows down, the presence of brain tumors, and thyroid hormone deficiency.

How is nanism treated?

It is advisable to treat congenital growth hormone deficiency at a time when the bone growth zones have not closed, that is, until puberty. Hormone therapy is carried out until the moment of complete ossification or the child reaches socially acceptable growth. For girls, it is 155 cm, and for boys - 165 cm. Growth hormone is prescribed for children. A prerequisite for treatment is proper nutrition and the intake of essential vitamins.

If a violation of the production of all hormones by the pituitary gland is detected, then the endocrinologist proposes a treatment regimen with leveling the general background. Sex hormones are prescribed for boys from 15 years old, girls from 16 years old and are taken by them all their lives in different dosages during and after puberty.

Treatment of acquired pituitary dwarfism depends on the cause that caused it - tumor, infection, trauma, radiation.

Recovery projections

During the first year of treatment with growth hormone, a child can grow immediately by 10-12 cm, and the maximum growth will be indicated in the first six months of therapy. Then the growth rate decreases, but children still grow better than without treatment. The earlier therapy begins, the more chances the child has to catch up with their peers in terms of physical development.

Predictions for the treatment of acquired nanism depend on the cause that caused it, the need for surgical intervention and its effectiveness.

A disease in which there is a delay in physical development and growth retardation is called dwarfism. In another way - nanism, microsomia or nanosomy. Despite the studied etiology of the deviation, in half of the cases, the causes remain unknown.

What is it?

- a hormone that the pituitary gland synthesizes. He is responsible for the growth and physical development of a person. If the production of this hormone is impaired, development slows down or occurs with impairments. Lack of growth hormone leads to dwarfism.

The disease is rare. There are no more than 4 cases per 10 thousand people. Men are more likely to be exposed than women. It should not be confused with constitutional short stature. also has nothing to do with nanism. Dwarf is considered to be less than 130 cm in height for men and 120 cm for women.

Classification

There are about 300 types of disease that differ in symptoms. They are divided into proportional and disproportionate microsomia. In the first case, the body of a sick person has the proportions of a healthy person, the only difference is in reduced sizes. In the second case, the proportions are significantly violated: some parts retain their standard sizes, others do not.

Proportional dwarfism:

• pituitary dwarfism;
• thyrogenic nanism;
• adrenal dwarfism;
• dwarfism associated with deviations of the thymus gland;
• infantile type caused by poisoning, exposure to toxins;
• dwarfism with rapid puberty, when growth zones close ahead of time.

Disproportionate:

• rickety nanism;
• chondrodystrophic dwarfism;
• dwarfism with congenital fragility of bones.

This classification is more than a century old, it was proposed in 1902 by the German pathologist David Hansemann. Nevertheless, it is still the most popular.

Reasons for the appearance

More often the disease is hereditary. If there were people with this pathology in the family, then there is an opportunity to give birth to a sick child. If both parents are dwarfs, then half of the time the child will be the same. However, healthy people who do not have relatives with this disease have a risk of giving birth to a baby with dwarfism.

During pregnancy, the fetus may not form properly. If the pituitary gland develops with impairment, primordial dwarfism (primary) occurs. It is proportional, people with this deviation grow up to a meter in height, while there are no deviations in the functioning of the body.

Sometimes a baby is born with normal growth and build. This often happens with oxygen starvation of the fetus, for example, with multiple pregnancies. The first alarming symptoms appear in 3-4 years. The kid lags behind in growth from peers. When other children add 7-8 cm per year, then for a dwarf this figure is 3-4 cm. To distinguish pathology from developmental delay and start treatment in time, at the first doubt you need to consult a doctor.

Nanosomy is acquired (pituitary). It occurs due to disorders of the pituitary gland, which cause:

• birth trauma to the head;
• tumors of the central nervous system;
• radiation and chemotherapy;
• operations performed on the brain;
• autoimmune diseases with inflammation of the pituitary gland;
• decreased susceptibility of body tissues to growth hormone;
• liver pathology;
• complication of some infectious diseases like syphilis and tuberculosis.

The situation is complicated by an unhealthy lifestyle, uncontrolled nutrition, the effects of radiation, poor environmental conditions and the presence of other chronic diseases.

Symptoms

The main symptom of this pathology is short stature, which can be combined with both disturbed and correct proportions.

Other signs of dwarfism are weak, flabby muscles. The subcutaneous fat layer is either poorly developed or excessively deposited on the abdomen, thighs and chest (outwardly looks like mammary glands).

The skin is dry, thin, pale with an unhealthy tinge. In the absence of therapy, it grows old early, wrinkles appear. There is no secondary hair growth.

To identify the causes of the disease, the following tests are prescribed:

• with glycine;
• with arginine;
• with insulin;
• with clonidine.

Additionally, the development of the pituitary gland is being studied, neurological studies, studies on the production of somatotropic growth hormone are carried out.

Treatment

Before prescribing the correct treatment, the doctor needs to find out the causes. After all, the type of therapy depends on them. However, in some cases it is impossible to influence the growth and development of a person.

Often, observation without therapy is required to find the causes - from six months to a year. During this period, proper nutrition and intake of vitamins and minerals are prescribed. If the sufficiency of nutrients does not bring tangible results, then treatment is selected.

This process is long and lasts several years. It is important that during this period the growth zones are not closed as long as possible. If developmental delay is caused by insufficient production of growth hormones, hormone replacement therapy is prescribed. Up to 13-14 years old it is somatotropin, after and up to 18 - steroid hormones.

When concomitant diseases appear, which are the root cause, treatment is aimed at eliminating them. If necessary, it is carried out:

• adjustment of the work of sex hormones during puberty;
• thyroid hormone therapy;
• taking vascular drugs for disorders of the central nervous system;
• restorative therapy, including a complete diet.

With changes in the nervous system and psyche, appropriate therapy is carried out, antidepressants and tranquilizers are prescribed. The psychological environment and the support of others are important.

Forecasts and prevention

Nanism is a disease in which it is far from always possible to be completely cured. Some forms of the disease cannot be corrected. However, if such an opportunity exists, the reasons are identified in a timely manner, treatment is prescribed, and the doctor's recommendations are followed, a person has every chance to achieve the growth of an ordinary person, develop normally and live a full life.

Even if growth cannot be corrected, patients are shown regular examinations and courses of supportive therapy. This increases life expectancy and improves its quality.

In the absence of intellectual disabilities, a person is able to adapt in society and realize himself as a person. And the full production of sex hormones gives a chance to start a family and give birth to children who can be completely healthy.

The chances that a child of healthy parents will be born with dwarfism disease is small. This is a rare pathology. However, there is no 100% guarantee that this will not happen.

To minimize risks, pregnancy should take place in a calm, healthy environment and with regular doctor visits. During this period and during feeding, it is important to have adequate nutrition, avoid stress and infections.

And correct childbirth with the help of qualified specialists will minimize the risk of birth trauma. A healthy lifestyle, respect for yourself and your child is not a panacea, but an opportunity to avoid not only this, but also many other diseases.