What is nanism of mixed genesis. Pituitary dwarfism - types and symptoms. What Causes Low Growth?

The word "nanism" means in translation dwarfism, short stature. Pituitary dwarfism is a disease that develops as a result of a deficiency of "growth hormone" - the somatotropic hormone of the pituitary gland. Pathology is manifested not only by low growth, 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 exist?

There are two types of pathology:

• Pituitary nanism of pure form. This form the disease is characterized only by a reduced amount of somatotropic 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 a small amount of somatotropin in the blood, this form of pathology is characterized by a deficiency of thyroid hormones and sex hormones, which leads to impaired sexual development.

You can also distinguish 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 hurt.

Symptoms and causes of dwarfism

A newborn child with pituitary dwarfism is no different from healthy child He has the same weight and height. One of the first signs of short stature begins to appear at 2-3 years. The growth of the child 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 the pathology of pituitary dwarfism retain 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.

Secondary hypocorticism may occur.

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 features of the psyche may be noted: isolation, infantilism, decreased self-esteem.

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

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 skin is pale and dry.
• The muscles are poorly developed.
• Subcutaneous fat is unevenly distributed, more fat deposits accumulate in the thighs, pubis, abdomen, and mammary glands.
• A small, rounded face with a protruding forehead and slightly flattened back of the nose.
• Underdevelopment of the genital organs.

In the case of a combination of pathologies of pituitary short stature and hypofunction of the thyroid gland, the patient has disturbances in cardiovascular system. In 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 palpebral fissures are narrowed.

How is sexual underdevelopment caused by pituitary short stature manifested?

• Adolescent girls have small sizes of the labia, which subsequently do not increase, and mammary glands; lack of menstruation; lack of hair in the pubic area.
• Adolescent boys have 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 hairline; the voice does not change.

Causes of pathology

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

1. The first category of causes leading to the development of pituitary dwarfism is the reduced sensitivity (resistance) of tissues to the effect of somatotropin 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 the family or close relatives when the children born later developed dwarfism, 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 causes includes the inhibited development of the central organs of the endocrine system - the pituitary gland or hypothalamus. Also included are:

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

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

Diagnosis of 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 identify its causes, a specialist needs to regularly measure the height and weight of the child, and then compare the data.

Note. A patient's bone age can be calculated from a hand x-ray. Also, this procedure allows you to determine the final growth of the 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 Turkish saddle.

If a child is suspected of having hormonal deficiency, an analysis is prescribed to determine the level of hormones in the blood. The level of some hormones is easier to determine, others are more difficult. For example, the thyroxine content in the blood can be measured directly. But the determination of the content of somatotropic hormone is more laborious, since the indicators change during the day. That is why it is necessary to conduct several blood tests.

However, to date, more effective methods diagnostics - tests with stimulation of somatotropin secretion. These tests are performed using insulin injections, so the analysis should be carried out under the supervision of an experienced physician.

Advice. Do not trust the opinion of one doctor. Before taking any drastic measures, consult several endocrinologists. It is also desirable to consult a geneticist, neurologist (neurosurgeon), gynecologist or andrologist.

What data does the doctor need for a correct diagnosis:

• study of patient complaints;
• medical history;
• a survey about the pregnancy of the mother;
• height and weight of the baby at birth;
• the presence of birth trauma;
• child development in infancy;
• nutrition of the baby in infancy;
• the presence of chronic diseases;
• the nature of the growth of parents;
• features of sexual maturation in father and mother;
• measuring the length of the limbs and the height of the child.

Treatment of pituitary dwarfism in children

Methods of treatment and their effectiveness, as a rule, 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! In the event that the primary source of dwarfism is hidden in the low production of the required growth hormones by the pituitary gland, the doctor may prescribe hormone replacement therapy, which will help slow the progression 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 hormonal 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 may 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, its surgical removal or a course of radiation therapy is used.

In the event that the signs of pathology are detected in time, the patient has all the possibilities to achieve normal growth and live a full life.

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 short stature syndrome

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

The term "pituitary nanism" (from the Greek nanos - dwarf; synonym: dwarfism, nanosomia, microsomia) in the absolute sense means a disease, the main manifestation of which is a sharp stunting associated with impaired secretion of growth hormone by the anterior 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 by a violation of the hypothalamic (cerebral) regulation of its functions, defects in the biosynthesis of growth hormone, violations 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 related to 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 dwarfism, along with a defect in the secretion of somatotropic hormone, the secretion of gonadotropins and thyroid-stimulating hormone is most often upset. Secretion of ACTH is disturbed 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, showed that most of these patients have pathology at the level of the hypothalamus, and insufficiency of the anterior lobe the pituitary gland is secondary. 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 occasionally. It is more common in the Americas, in the countries of the Near and Middle East and in Africa. Based on the results of the study of somatotropic hormone in the blood and the sensitivity of patients to exogenous somatotropic hormone, the level of immunoreactive insulin (IRI), insulin-like growth factors (IGF) of type I (somatomedin C) and type II, and the response of IGF-1 to treatment with growth hormone preparations, various variants of clinically similar types of dwarfism.

Recently, the pathogenesis of Laron's nanism, which is due to a deficiency of IGF-1 and IGF-II, as well as the pathogenesis of dwarfism in African pygmies, associated with a deficiency of the first, has been deciphered.

In 1984, a new variant of pseudopituitary dwarfism with high levels of somatotropic hormone and IGF-1 was described; the genesis of nanism is explained by a defect in its receptors, 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.

In the analysis of 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 dwarfism (2-4 cases per family), which accounted for 28% of all patients. In 77% of families with etiologically unclear (mostly genetic) forms of dwarfism, an undoubted connection with the inheritance of the absence of the Rh factor was established. The distribution of the Rh factor in 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 the newborn (the father can be Rh-negative, and if the parents are heterozygous for Rh affiliation, children, etc.). d.). It can be assumed that there is a connection between the activity of the genes responsible for the synthesis of somatotropic hormone (or somatotropin-releasing hormone) and the genes that determine Rh-affiliation, especially since most forms of dwarfism and the absence of the Rh factor are autosomal recessive traits. This does not explain the relative rarity of the incidence of dwarfism compared to the frequency of Rh-negative individuals in the population. Probably, some additional factors that are not yet known are important, however, the distribution of the Rh factor in families of patients with familial and sporadic dwarfism is unlikely to be accidental.

A large group of patients with dwarfism (primary cerebral, cerebral pituitary) consists of patients with various types of organic pathology of the central nervous system that occurred in utero or in early pregnancy. childhood. The anatomical substrate causing this pathology may be the underdevelopment or absence of the pituitary gland, its dystopia in the pathology of the formation of the Turkish saddle, cystic degeneration of the pituitary gland, its atrophy due to tumor compression (craniopharyngioma, chromophobic adenoma, meningioma, glioma). Nanism 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 childbirth in the breech, foot presentation or in the transverse position with a turn on the leg (this is the mechanism of childbirth in more than 1 /3 patients with dwarfism). Infectious and toxic damages (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 that regulate its function, and disrupt normal functional connections in the central nervous system.

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

Additional factors that aggravate the violation of physical development in nanism may be inadequate, unbalanced in terms of the main ingredients (protein deficiency) and microelements (zinc deficiency) nutrition and adverse environmental conditions, as well as various chronic diseases, such as glomerulonephritis, in which azotemia affects the 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 somatotropic hormone secretion and sensitivity to it, but extend to other tropic hormones of the pituitary gland, which causes various combinations of endocrine and metabolic disorders.

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

With dwarfism, thinning of the bones is noted, mainly due to the cortical layer, a delay in differentiation and ossification of the skeleton. The internal organs are hypoplastic, sometimes atrophic, the 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 height of women was less than 120 cm and men 130 cm. At present, the growth of a dwarf differs by at least 2-3 sigmal deviations from the average tabular norm for a given sex, age, population. There is also a method for graphical estimation of growth based on a Gaussian distribution curve. At the same time, dwarfs in terms of growth fall into a group that includes the minimum number of individuals in the corresponding population with the greatest lag behind the average growth rate.

For pituitary dwarfism, not only small absolute body sizes are characteristic, but also a small annual dynamics of growth and physical development. The physique is proportional, but the proportions of the body of patients are characteristic of childhood. The skin is pale, often with a yellowish tint, dry, due to absolute or relative thyroid insufficiency, sometimes cyanosis is observed - "marbling" of the skin. In untreated patients, old-looking and wrinkled skin (geroderm) appears early. This is due to the insufficiency of the anabolic action of growth hormone and the slow change of cell generations.

Hair on the head can be both normal and dry, thin, brittle; characterized by long eyelashes. Secondary hair growth is often absent. The size of the Turkish saddle in most patients with dwarfism (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 an increase in the Turkish saddle, which is a sign of a tumor; with areas of calcification against its background or in the area of ​​​​the entrance (with craniopharyngioma, residual effects 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 finger impressions, etc. The most important sign of pituitary dwarfism is a delay in the timing of differentiation and ossification of the skeleton. In close connection with the differentiation of the skeleton are 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 insufficiency and hypothyroidism.

The genital organs in most patients are sharply underdeveloped, although malformations are rare. We observed cryptorchidism in 5.8% of male patients. Sexual insufficiency is accompanied by underdevelopment of secondary sexual characteristics and a decrease in sexual desire, lack 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 symptom 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 in pituitary dwarfism decreases less frequently and to a lesser extent than sexual and thyrotropic function, and in most patients does not require special correction.

In most cases, intelligence is not impaired. There are emotional changes in the form of mental infantilism; at patients of advanced age without disturbance of intelligence reactive neurosises are sometimes noted.

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

The study of the formation of the bioelectrical activity of the brain in patients without organic symptoms from the CNS showed that their EEG is characterized by features of immaturity, long-term preservation of a high "childish" EEG voltage; 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; clear reaction to hyperventilation; a shift in the range of following EEG rhythms to rhythms of light stimulation towards low frequencies (evidence of a decrease in the functional mobility of the nerve structures of the brain). It was found that in older patients, the immature nature of the electrical activity of the brain is due to sexual underdevelopment, and in patients of all age groups - hypothyroidism.

Carbohydrate metabolism in patients with dwarfism is characterized by a tendency to lower blood glucose levels on an empty stomach, its rise during exercise, insufficiency of endogenous insulin, increased sensitivity to exogenous insulin with the frequent development of hypoglycemic conditions. The latter is explained mainly by the insufficient content of contrainsular hormones in the body of patients.

On the part of the internal organs, splanchnomycria is noted - a decrease in their size. Functional changes in internal organs specific to dwarfism 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 various topics are heard due to trophic changes in the myocardium and autonomic disorders. The ECG is characterized by low voltage (especially in the presence of hypothyroidism), sinus bradycardia, or bradyarrhythmia; for FKG - a decrease in the amplitude of tones, additional tones, functional noise. Oxygemometry data indicate hypoxemia (initial and during exercise), oxygen debt. Older patients sometimes develop hypertension.

Diagnosis of dwarfism

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

And \u003d M - Msr / δ, where M is the patient's height, Msr is the average normal height for a given sex and age, δ is the square deviation from Msr; And less than 3 is typical for nanism, And more than 3 is for gigantism. This indicator can be used to assess the dynamics of development.

X-ray examination of patients with dwarfism 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, bone (radiological) age is determined, which corresponds to the differentiation of bone tissue; ossification deficiency (ossification) - the degree of ossification lagging behind the norm (in years), the ossification coefficient is the quotient of dividing bone age into chronological and other parameters.

Modern diagnosis of nanism is impossible without studying the secretion of somatotropic hormone, its basal level, circadian rhythm, ejection under conditions of stimulation. For most patients with pituitary dwarfism, a reduced content of somatotropic hormone in the blood serum is characteristic. When determined by the radioimmunological 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 daily (circadian) rhythms of somatotropic hormone secretion showed that its level in healthy people maximum during the first 2 hours of sleep and at 4-6 hours. With dwarfism and during these hours, the content of somatotropic 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. Normal is the release of somatotropic hormone after stimulation to at least 7-10 ng / ml, sometimes it reaches 20-40 ng / ml. If there is no reaction in one of the samples, repeat tests with other stimulants are carried out. Growth hormone deficiency is considered proven in the absence of growth hormone release in 2-3 different samples.

The following stimulating tests are most commonly used: with intravenous administration of 0.1 U (0.75-1.5 U) of insulin per 1 kg of the patient’s body weight and achieving hypoglycemia (a decrease in blood glucose by 50% to the initial level), serum somatotropic hormone is determined by the diagram above. 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 you to judge the level of damage to the hypothalamic-pituitary system. A positive reaction to TRH in its absence to insulin hypoglycemia indicates the intactness of the pituitary gland and damage at the hypothalamic level, negative reactions to TRH and hypoglycemia indicate damage to the pituitary gland itself.

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

Human SRG is a synthetic analogue of a biologically active compound isolated from a pancreatic tumor. Currently, there are 3 types of synthetic SRG: with 29, 40 and 44 amino acid residues. Applied intravenously in doses of 1 to 3 mg / kg of body weight of the patient. The release of growth hormone is observed 15-20 minutes after administration, the test more effectively than others reveals the reserves of endogenous growth hormone. A positive STH reaction indicates a hypothalamic level of damage to somatotropic function and an intact 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 patient's body weight. Effective for studying STG reserves. May cause allergic reactions.

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

Tests with glucagon, bromergocriptine (parlodel), lysine-vasopressin, clonidine, with a dosed bicycle ergometric load are also used.

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 in case of insufficiency 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 IGF-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 dwarfism 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 growth hormone, but with a violation of the formation of IGF-1 and IGF-P. Treatment of such patients with somatotropin 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 conditions, 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 (insufficiency of androgens or estrogens), the thyroid gland (a drop in the levels of T 3 , T 4 , protein-bound iodine - PBI, accumulation of 131 I by the thyroid gland), adrenal glands ( a decrease in the amount of cortisol and 17-OCS in plasma, excretion of 17-KC and 17-OCS in the urine, lymphocytosis).

All types of pituitary (hypothalamic-pituitary) genetic dwarfism are characterized by a repeated disease of children in the 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 o from 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 height of at least 7 cm per year). With a normal or high level of somatotropic hormone (with its biological inactivity), sensitivity to the hormone can be preserved. No change in intelligence

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

Cerebral dwarfism is characterized by single 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 the pathology of the organ of vision, the presence of diabetes insipidus, the preservation of gonadotropic functions, changes in intelligence.

Pronounced short stature is accompanied by some types of dysgenesis and agenesis of the gonads, in particular the Shereshevsky-Turner syndrome and the "turneroid" (mosaic) form of testicular dysgenesis syndrome. Cytogenetic studies (sex chromatin, karyotype) help in differential diagnosis, revealing chromosomal defects, as well as characteristic malformations of somatic and sexual development, normal or elevated levels of endogenous somatotropic hormone and insensitivity to somatotropin treatment.

Among the endocrine disorders that occur with short stature, primary hypothyroidism should be distinguished due to 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 dominate with a high level of TSH, a decrease in T 4 and T 3 in the blood serum. With myxedema of autoimmune genesis, antibodies to thyroglobulin, microsomal and nuclear fractions of thyroid tissue are detected in the blood, the level of somatotropic hormone is normal or reduced. The clinical effect can be achieved by compensating only hypothyroidism.

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

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

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

Family short stature should be considered as a variant of physiological development.

Treatment of dwarfism

Treating dwarfism is a lengthy process. This forces the physician to time the growth interventions in such a way as to obtain the greatest clinical effect, while respecting 2 basic principles:

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

Many years of experience in the treatment of dwarfism makes it reasonable to consider the following scheme of staged therapy. The diagnosis of nanism in adult patients is usually beyond doubt. In young children with ambiguity clinical picture a diagnostic period is required: 6-12 months under supervision without hormone therapy. At this time, complex 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 is 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 deficiency is undeniable. 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-tumor 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. Age restrictions for treatment have not been established.

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 is 0.82 cm/month, body weight is 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 was maintained for 3-4 years, which makes it possible to consider a course treatment regimen more appropriate. Determining the level of IGF-I (somatomedin C) can serve as a reliable indicator of the patient's sensitivity to treatment with somatotropin preparations. An increase in the content of IGF-I after the introduction of somatotropic hormone makes it possible to predict the positive effect of therapy. An important advantage of treatment with somatotropin is the absence of accelerated ossification of the skeleton against its background.

The most important treatment for dwarfism should be considered the use of anabolic steroids, which stimulate growth by increasing protein synthesis and increasing the level of endogenous growth hormone. Treatment is carried out for several years, with the gradual replacement of some drugs with 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 the duration of treatment). With addiction, longer breaks are also shown (up to 4-6 months). Only one of the anabolic steroids is prescribed at a time. It is not advisable to combine 2 or more drugs, 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 beginning 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 established, usually from 5-7 years of age. Before treatment, the appointment of gonadotropins and sex hormones should be avoided, which, while stimulating growth, simultaneously accelerate the differentiation of the skeleton. The principle of dosing anabolic steroids is from the minimum 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, the 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 state of the genital organs and the differentiation of the bones of the skeleton, which allows them to be used in 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 in some patients, signs of virilization may appear, which quickly regress when treatment is discontinued. Methylated at 17-leaded oral preparations can sometimes cause a cholestatic effect, therefore, in liver diseases, parenteral anabolic compounds should be preferred, or oral preparations combined with choleretic agents. Very rarely, treatment with anabolic steroids can cause allergic phenomena (itching, rashes). 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 (thyroxine, thyroidin, thyreotomy) are simultaneously prescribed in individually selected doses.

In the treatment of boys, the next step is the appointment of chorionic gonadotropin. This drug is used not 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). Apply doses from 1000 to 1500 IU 1-2 times a week intramuscularly for 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 is alternated 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 small doses of estrogens, while simulating a normal sexual cycle. Treatment is carried out for 3 weeks of each month, followed by a break. In the 2nd phase of the cycle from the 3rd week, chorionic gonadotropin can be prescribed at a dose of 1000-1500 IU 3-5 times a week or progestogen drugs (pregnin, progesterone).

The final stage of treatment (after the closure of growth zones) is the constant administration of therapeutic doses of sex hormones corresponding to the patient's sex, in order to fully develop the genitals, secondary sexual characteristics, ensure libido and sexual potency. For the treatment of female patients, combined estrogen-gestagen preparations (non-ovlon, bisekurin, infecundin, rigevidon) are convenient to use, for male patients - long-acting androgen preparations (testenat, sustanon-250, omnadren-250).

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

In the presence of organic pathology from the side of the central nervous system, anti-inflammatory, absorbable, dehydration therapy is carried out. Targeted systematic therapy gives an encouraging effect. Of the 175 patients with dwarfism of both sexes, as a result of long-term staged treatment, 148 (80.4%) managed to achieve a height of more than 130 cm, 92 (52.5%) - more than 140 cm and 32 (18.3%) - 150- 160 cm or more. At the same time, growth increased by 30 cm in 37 patients (21.2%), by 31-50 cm - in 107 (61.1%). by 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 an organic lesion of the central nervous system, it is determined by the dynamics of the development of the underlying pathological process. Modern methods of therapy have significantly increased the physical capabilities and working capacity of patients, lengthened their lifespan. 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.

The employment of patients corresponding to their intellectual and physical capabilities is of paramount importance for their social adaptation.

It is advisable to choose professions that are not associated with great physical exertion, but allow one to demonstrate intellectual abilities, abilities for precise work, 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 of growth hormone (growth hormone, STH).

This disease 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. In 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) of the anterior pituitary gland.

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

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 from peripheral tissues.

Pituitary dwarfism is usually attributed to diseases that are inherited genetically. 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 questions from relatives will help to recognize the disease in loved ones.

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 factors environment, 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,. A predisposing factor to nanism is sometimes radiation therapy or chemotherapy. However, in about half of the cases, the cause of the development of this pathology cannot be found out.

signs

So, the main symptom of the disease is considered short stature a person - below 130 cm in men and below 120 cm in women. So, if normally a child grows by 7-8 cm per year, then with pituitary dwarfism, the growth of the child 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 the growth and physical development of the body in comparison with the average norms for a certain age. Signs of dwarfism suggest 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 2-4 years of age.

In patients who suffer from dwarfism, there is a proportional shape and body build. But at the same time, such proportions are more in line with the children's physique. These 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 proper 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 chest. At the same time, the muscles are very poorly developed. If patients who develop gigantism , the 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 sign that manifests pituitary dwarfism is a delay in ossification of the skeleton. 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 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, in women with pituitary dwarfism, pronounced manifestations of hypogonadism are noted. They may not have periods, the mammary glands remain underdeveloped, secondary sexual characteristics do not appear.

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

If nanism has developed in a patient due to an organic brain lesion, then cerebral symptoms are present, and intelligence is reduced. Often 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 features of development, the pediatrician evaluates not only the growth and weight of the child, but also their dynamics.

If pituitary dwarfism is suspected, an X-ray examination is prescribed. On x-rays of the hands and wrist joints, signs of delayed differentiation and ossification of the skeleton can be seen.

Conducting computed tomography allows you to determine the underdeveloped areas of ossification of the skeleton. With the normal development of the body, bones are formed from cartilage, their ossification takes place gradually. Such processes begin with ossification points. They are completely 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, it is carried out 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 by 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 necessarily determine the cause that provoked the development of this pathology. If pituitary dwarfism can be recognized and confirmed in a timely manner, then replacement therapy with somatotropic hormone gives good results. In the course of treatment, a hormone is used, both natural and synthetic origin.

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

Increasing the height of the patient during treatment is another important criterion. Treatment is considered effective if, after a year of therapy according to a certain scheme, a person grows by 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 just such a scheme, because prolonged use of this hormone in large doses can provoke production in the body. Therefore, an experienced endocrinologist must control the process of therapy.

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 gives growth hormone . However, this treatment allows you to activate the growth and development of the skeleton, and at the same time promotes the production of internal somatotropin. It is advisable to start such therapy with 5-7 years of age, however, to carry it out later than in 18 years, inefficient.

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 analogues of those hormones that are missing are practiced.

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

Patients with pituitary dwarfism should fully eat. The diet should include as many animal-containing foods as possible. protein, calcium, phosphorus, all groups of vitamins.

Pituitary dwarfism, provoked by tumors of the brain, pituitary gland, hypothalamus, is more difficult to treat, since access to the localization of the tumor is very difficult. Such people often receive 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 who are treated in a timely manner can subsequently gain significant height.

The doctors

Medications

Prevention

There are no effective preventive measures to prevent dwarfism. However, the influence of harmful factors should be avoided ( poisons, toxins etc.) during 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.

Many factors affect the growth of a child - heredity, nutrition, previous diseases, endocrine disruptions, congenital developmental anomalies. Two average deviations from the norm in growth is called short stature. Nanism in children is diagnosed if the child begins to significantly lose the centimeters due to age and his height becomes less than three or more average deviations from the norm. Boys are slightly more prone to this disease than girls. Dependence on race or age has not been identified.

Why does a child's growth slow down?

Nanism develops 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, malabsorption nutrients, diseases of the kidneys, liver, skeletal system, disorders in genetics and chromosomes, for example, Down syndrome is accompanied by growth retardation
3. Features of development - small growth of all family members, late puberty

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

Causes of pituitary dwarfism and its types

The signal to the anterior pituitary about the need to synthesize growth hormone (somatotropin or growth hormone) is sent from the hypothalamus. After that, the mechanism of distribution and assimilation of somatotropin by bones, organs, tissues and muscles is launched. If any link in this chain fails, the child stops growing. Depending on the causes that caused pituitary dwarfism in children, the disease has 3 types:

• congenital deficiency of growth hormone - occurs due to heredity, abnormalities in the structure and development of the hypothalamus or pituitary gland, insufficient production of growth hormone synthesis stimulants in the hypothalamus;
• acquired growth hormone deficiency - occurs due to brain tumors, injuries, 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 do children begin to lag 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;
• bone maturation slows down;
• the face acquires a puppet expression - the features become small, the bridge of the nose sinks, the shape is round;
• hair becomes thinner;
• the voice becomes high;
• often overweight;
• 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

The anterior pituitary gland produces 6 hormones. Somatotropin 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. A complete stoppage of hormone production is called panhypopituatarism. That is why, with pituitary dwarfism, changes in the body are present or appear 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 developing dwarfism in a child, you should 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 rate of 4 cm is detected with normal proportions of the whole body
2. Questioning parents about existing symptoms, as well as their dynamics
3. Determination of bone age - there is a delay from chronological age by 2 years, detected by X-ray of the bones
4. Blood test for the amount of growth hormone
5. Brain examination - X-ray, MRI, computed tomography - is performed to detect 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, slow development rates will remain, including growth retardation, 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?

Treatment of congenital somatotropin deficiency is advisable to carry out at the moment until the bone growth zones are closed, that is, until puberty. Hormone therapy is carried out until the moment of complete ossification or the achievement of socially acceptable growth by the child. For girls, it is 155 cm, and for boys - 165 cm. Children are prescribed growth hormone. A prerequisite for treatment is proper nutrition and taking the necessary vitamins.

If a violation of the production of all hormones by the pituitary gland is detected, then the endocrinologist offers a treatment regimen with an equalization of the general background. Sex hormones are prescribed for boys from the age of 15, girls from the age of 16 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 - tumors, infections, trauma, radiation.

recovery forecasts

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 the children still grow better than without treatment. The earlier therapy begins, the more likely the child is to catch up with his peers in terms of physical development.

The prognosis for the treatment of acquired dwarfism depends 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 nanosomia. Despite the studied etiology of the deviation, in half of the cases the causes remain unknown.

What does it represent?

A hormone produced by the pituitary gland. It is responsible for the growth and physical development of a person. If the production of this hormone is disturbed, development slows down or occurs with disturbances. The lack of somatotropin leads to dwarfism.

The disease is rare. There are no more than 4 cases per 10 thousand people. Men are more commonly affected 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 men and 120 cm in women.

Classification

There are about 300 types of diseases that differ in signs. 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 difference is only in reduced sizes. In the second case, the proportions are significantly violated: some parts retain standard sizes, others do not.

Proportional dwarfism:

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

Disproportionate:

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

This classification is more than a century old, it was proposed in 1902 by the German pathologist David Hansemann. However, 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 it is possible to give birth to a sick child. If both parents are dwarfs, then half the time the child will be the same. However, in healthy people who do not have relatives with this disease, there is a risk of giving birth to a baby with dwarfism.

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

Sometimes a child is born with normal growth and body build. This often happens when oxygen starvation fetus, such as in multiple pregnancies. The first alarming symptoms appear at the age of 3-4 years. The kid is behind in growth from peers. When other children add 7–8 cm per year, then for a dwarf this figure is 3–4 cm. In order to distinguish pathology from developmental delay and start treatment on time, you should consult a doctor at the first doubt.

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;
• decrease in the susceptibility of body tissues to somatotropic 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 proportions and correct ones.

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

The skin is dry, thin, pale with an unhealthy tint. In the absence of therapy, aging 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.

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

Treatment

Before prescribing the right treatment, the doctor needs to find 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, to find the causes, observation without therapy is required - from six months to a year. During this period, proper nutrition and intake of vitamins and minerals are prescribed. If nutritional adequacy does not bring tangible results, then treatment is selected.

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

When concomitant diseases appear, which are the root cause, treatment is aimed at eliminating them. If necessary, the following 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;
• general strengthening 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 cure completely. Some forms of the disease cannot be corrected. However, if there is such an opportunity, the causes 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 maintenance 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 quite healthy.

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

To minimize the risks, pregnancy should take place in a calm, healthy environment and with regular visits to the doctor. During this period and during feeding, good nutrition, avoidance of stress and infections are important.

And proper delivery with the help of qualified professionals will minimize the risk of birth trauma. A healthy lifestyle, caring for yourself and your child - if not a panacea, but the ability to avoid not only this, but also many other diseases.