Genetic diseases



dwarfism photo Dwarfism (dwarfism, nanosomes, microsomia) - a clinical syndrome, which is characterized by delayed physical development of man (hence the name of the disease: dwarfism with Greek - "dwarf").There are proportionate dwarfism and disproportionate dwarfism.

main reason for detection of dwarfism is in violation of secretion of pituitary growth hormone (somatotropin, growth hormone, growth hormone).People with this syndrome have a low rise, men no more than 130 cm, the growth of women is no more than 120 cm. This reveals dwarfism about 2 times more common in males than in females.Disease occurs infrequently: on average, 10 000 cases of dwarfism 1-4.

causes dwarfism

Dwarfism can occur for several reasons:

- genetic factors.If you have a family history of dwarfism dwarfism probability of gene transfer to the future generation is about 50%;

- disturbances in embryonic development (birth defects of the pituitary gland, leading to its underdevelopment and abnormal operation), develops

primordial dwarfism ;

- different tumor, located in the central nervous system (chromophobe pituitary adenoma, craniopharyngioma, glioma);

- head injury during delivery and in the postnatal period, which violate the circulation and the hypothalamus and / or pituitary gland;

- complications during the course of infectious diseases (syphilis, sarcoidosis, tuberculosis), as pathogenic bacteria or viruses can penetrate the CNS;

- autoimmune diseases that lead to inflammation of the pituitary growth hormone synthesis and deterioration;

- radiotherapy, chemotherapy;

- operative intervention in the area of ​​the hypothalamus, the pituitary gland;

- decrease in the sensitivity of various tissues to the action of growth hormone, although the content of growth hormone in the blood in some cases remains normal;

- lack of somatomedins, synthesized in the liver.Between somatomedins and growth hormones has korrellyatsionnaya connection.For example, under a reduced synthesis of growth hormone somatomedin activity decreases, although the functioning of the pituitary gland is not broken;

- multiple pregnancy;

As to the factors contributing to even greater deterioration in the physical development of dwarfism include poor patient care, a variety of environmental factors, unbalanced diet, the simultaneous occurrence of other physical illnesses.

Despite decent etiology of dwarfism, more than 60% of cases of this disease remains unexplained.

dwarfism symptoms

The endocrine system is represented bodies synthesize and secrete biologically active substances in the blood.This system comprises the central and the peripheral part.The central authorities presented the hypothalamus and pituitary, the composition of peripheral organs including the thyroid gland, testes, ovaries, adrenal glands and so forth.

The hypothalamus is responsible for the synthesis of releasing factors that affect the pituitary hormone responsible for the regulation of the internal organs.The number of these hormones includes somatotropin, a violation of secretion is associated with the appearance of dwarfism in humans.

Compared with other hormones that influence first on peripheral endocrine glands (as they have already, through their hormones ensure the normal functioning of the body), growth hormone has a direct impact on development, internal organs, organ systems:

- has a stimulating effect on theprotein synthesis in cells retards decomposition of protein molecules;

- influences the development and growth of bone, increases bone mineralization;

- stimulates the synthesis of the liver and kidneys somatodeninov;

- the burning of fat increases the content in the bloodstream of fatty acids;

- effect on carbohydrate metabolism in the body.

Weight and height of newborns with dwarfism do not differ from those in healthy children.The first signs indicating the presence of dwarfism the child, beginning to manifest itself in 2-3 years.At this age begins stunting a child with dwarfism (the addition of 3-4 cm per year in growth instead of the normal 7-8 cm per year).However, children with dwarfism maintain normal body proportions.

Stunting is combined with the appearance of a child with dwarfism:

- face a small, rounded, protruding forehead, slightly flattened bridge of the nose (like a baby doll);

- says dry, pale skin.The skin is thin;

- uneven distribution of subcutaneous fat: a high degree of fat in the breasts, abdomen, thighs, pubic area;

- weak development of muscles;

- underdevelopment of genitals.In the male sex glands with dwarfism are reduced, as well as the penis, scrotum not completed the development of secondary sexual characteristics are poorly developed or non-existent.Do not observed female menstruation, breasts are underdeveloped, almost not expressed secondary sexual characteristics (or absent).However, in the case of primordial dwarfism (primordial - "primary", "original", formed in utero) secondary sexual characteristics are produced in a timely manner, the girls runs menstruation (sometimes delayed), people with this type of dwarfism can be sexually active may conceive a child.

- a good memory.

addition to the symptoms of dwarfism include: slowing down the process of ossification, breach of tooth development, underdevelopment of sexual organs, visual impairment if there is a tumor in the pituitary gland or surrounding areas of the brain, a predisposition to hypotension, the early appearance of wrinkled skin and its aging (atuntreated), the lack of a secondary body hair, late shift teeth splanhnomikriyu (small size of the internal organs), bradycardia, hypotension, muffled heart sounds.Possible secondary gipokortitsizm.

as influenced by the pituitary gland are the peripheral organs of the endocrine system, the development of pituitary dwarfism may impair not only the synthesis of growth hormone.Then the clinical picture is diverse.It identifies several types of pituitary dwarfism:

- pure form.It is characterized by only a quantitative reduction in the content of growth hormone in the blood, as well as the lack of effect of growth hormone on the development of tissues and organs;

- mixed forms.Besides a lack of growth hormone, there is lack of thyroid hormone, a small amount of sex hormones that determine the normal development of the reproductive system.

When combined pituitary dwarfism and hypothyroidism (hypothyroidism) in patients with marked:

- thickening of the skin, cold to the touch.Because of the dryness of the skin marks them peeling on the palms;

- impregnation of subcutaneous fat layer edematous fluid, hence the circular shape of the face and eye narrowing gaps;

- subtlety, brittle hair;

- disturbances in the cardiovascular system: bradycardia, a slow heart rate;

- the backlog of mental development (however, it is observed in the case of severe disease of the thyroid gland).

Genital hypoplasia (infantilism) against dwarfism manifests:

- Boys adolescence - infaltivnye genitals small penis size, hypoplasia of the scrotum with a possible undescended testicle in it, (unilateral or bilateral undescended), the absence of hair inarmpits, face, pubic area.Saved a child's voice.

- adolescent girls - the small size of the labia, in the future, they did not increase, lack of hair near the pubic area, small breasts, the absence of menstruation.

Dwarfism treatment

In the diagnosis of dwarfism draws attention to the existence of the corresponding symptoms: presence of stunting, ranging from 2-3 years, with the preservation of proportional physique and mental abilities (proportional dwarfism).For the diagnosis of "dwarfism", various laboratory tests and instrumental methods of research.

Among laboratory a leading position occupied by the diagnostic tests, which are conducted to determine the content in the bloodstream of growth hormone.The essence of the sample is to determine hormone levels of blood after taking a certain type of drug.Distributed following tests: insulin test, test with clonidine test with glycine / insulin.

important place occupied by X-ray techniques to study the skull of the patient, the state of the Turkish saddle (the location of the pituitary gland).If there are any violations sella (the size is not correct, damaged, deformation), they will be clearly traced on the radiograph.A more complete picture will provide a computer tomography (CT) and magnetic resonance imaging (MRI), through which the doctor can detect the underdeveloped areas of ossification, in which the so-called point of ossification persist throughout life in the case of congenital disorders of growth hormone synthesis.

Successful treatment of dwarfism depends entirely on the cause of the disease.In the case of gene transfer dwarfism the child from the parents early detection of the disease will apply the substitution therapy that slows the progression of dwarfism.

pituitary dwarfism, the cause of which served as brain tumors (lesions of the hypothalamus, the pituitary gland), because of the inaccessibility of the affected areas harder in terms of treatment.Usually people with this form of dwarfism get a certain degree of disability, as low growth and limitations in physical abilities considerably narrow range of areas of employment for these people.

Basically, the treatment of dwarfism is based on:

- hormone replacement therapy with growth hormone.He was appointed to the age of 13-14 years, is taken into account the effect of growth hormone on the increase of somatodeninov in the bloodstream.If after a certain period of time somatodeninov concentration increased, the treatment is successful.In order to simplify the definition of hormone dosage and administration of patient created special pen for administration of injectable growth hormone;

- the use of steroid hormones.These hormones, though not complete analogs of growth hormone, but significantly enhance the growth and development of skeletal tissue, assisting in the development of internal growth hormone.Begin treatment with a 5-7 years, not later than the age of 18;

- adjustment of defective functioning of hormones.Such treatment of dwarfism is appointed in adolescence.Boys are encouraged to take chorionic gonadotropin for 3 months and methyltestosterone in conjunction with the first drug in its low efficiency.Girls prescribed estrogens (sex hormones, female), in accordance with normal sexual cycle.The last factor to be considered in order to prevent complications: delayed menstruation or excessive menstrual function.Sinestrol also used (in the first half of the menstrual cycle) and human chorionic gonadotropin (with the second half of the menstrual cycle);

- diagnosis and appropriate treatment of the underlying disease;

- thyroid hormones the use of drugs (in the presence of hypothyroidism);

- vascular drugs (in the case of violations of the central nervous system);

- appointment of strengthening therapy, vitamin A and vitamin D, various drugs (containing calcium, zinc and phosphorus), a diet high in protein and vitamins.

In most cases, people with dwarfism syndrome with timely treatment achieved normal growth.Patients quite successfully adapted to the conditions and are able to lead a full life.

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