DWARFISM

From Big Medical Encyclopedia

DWARFISM (synonym: nanism, nanosomia, microsomia) — the morbid condition which is expressed lag in growth in comparison with average norm for age, the corresponding floor, population, race. To. it is necessary to distinguish from family (constitutional) low-tallness, and also from a functional growth inhibition at almost healthy children, to-ruyu it is necessary to consider as option of physiological development. It is considered to be dwarfish growth lower than 130 cm at adult men, it is lower than 120 cm — at women.

To. drew attention of doctors and researchers since antique times what various publications confirm. However the first attempts of consideration of an etiology To. and classifications were undertaken at the end of 19 century

Classification

the First scientific classification To. it was offered by V. Hansemann in 1902. This classification is based on allocation of two forms: To. with a proportional constitution and To. with a disproportionate constitution.

To. with a proportional constitution (normal proportions of a body):

1) pituitary nanism (Paltauf's dwarfism); 2) thyrogenic (myxedematous) nanism; 3) a nanism at an adrenogenital syndrome (a so-called adrenal nanism); 4) the nanism caused by a disease of a thymus; 5) the infantile type of a nanism caused by exogenous influence (toxic factors, alimentary insufficiency, etc.); 6) To. at early puberty with premature closing of regions of growth.

To. with a disproportionate constitution: 1) rachitic nanism; 2) hondrodistrofichesky nanism; 3) To. at inborn fragility of bones (see. Bone formation imperfect ).

Continue to use this classification though in connection with specification of an etiology and pathogeny of separate forms K. also other classifications, napr, Fankoni and Vallgren (1960) classification, etc.

== the Aetiology and pathological physiology == are offered To. is manifestation and one of symptoms of genetic disorders of growth of an organism, a row endocrine and not endocrine (an osteochondrodystrophy, alimentary insufficiency, etc.) diseases.

The genetic and chromosomal disorders causing development of such forms as pituitary, thyrogenic, To have essential value. at Shereshevsky's syndrome — Turner (see. Turner syndrome ), adrenogenital syndrome (see).

Pituitary To. it is connected with dysfunctions of a hypophysis. Allocate three types: To. with the isolated insufficiency somatotropic hormone (see), To. with the normal content of somatotropic hormone in blood at it biol, inactivity and To. with a panhypopituitarism (see. Hypopituitarism ). A special form pituitary To. the form with the normal content of somatotropic hormone in blood and nonsensitivity of fabrics to it is.

Absolute or relative deficit of somatotropic hormone is often combined with disturbance of products of other hormones of an adenohypophysis. Insufficiency of somatotropic function of a hypophysis can be either primary, or caused by disturbance regulation or change of activity of closed glands (a thyroid gland, adrenal glands, a pancreas, gonads) which hormones at interaction with somatotropic hormone influence process of growth. At the same time bone formation is broken, proliferation of cartilaginous tissue in epiphyseal zones of bones stops and growth of bones in length stops.

To. it can be connected with a general disease of a skeleton, hron, disturbances of exchange, infections and others patol, processes, directly or indirectly breaking the course of developments of bones.

Thyrogenic To. it is connected with hypothyroidism (see), the caused underdevelopment of a thyroid gland, or with genetic fermental defects of biosynthesis of hormones of a thyroid gland. To. at dysgeneses of gonads (see) it is caused by aberation chromosomes and it is characterized by decrease in products of estrogen and increase in content in blood gonadotropic hormones (see); as X-chromosome is responsible not only for a differentiation of gonads, but contains a large number of the genes defining development of somatic signs at patients the growth inhibition connected with disturbance of a skeletogeny, a delay of ossification is quite often noted. At an adrenogenital syndrome of a growth disorder are defined by premature closing of epiphyseal zones of tubular bones.

To. it is noted at Laurence's syndrome — Muna — Bidlya (see. Laurence — Muna — Bidlya a syndrome ), Fankoni's syndrome (see. De Tony — Debra — Fankoni a syndrome ), diseases to Awnless wheat (disturbance of synthesis of a glycogen in a liver), diseases to Gosha (see. to Gosha disease ), Nimann's diseases — Peak (see. Nimanna — Peak a disease ), Gurler's syndrome — Pfaundlera (see. Gargoilizm ), Morkio's diseases (see. Morkio disease ). These syndromes and diseases are in most cases connected with genetic disorders, however their pathogeny is various.

To. is rather frequent display of disbolism. At a diabetes mellitus at children To. can be a consequence of a syndrome of Mauriac (see. Mauriac syndrome ); it can be at Itsenko's disease — Cushing (see. Itsenko — Cushing a disease ).

Rickets, chronic infectious diseases (tuberculosis, syphilis), diseases of a liver can be also followed by dwarfism. The so-called renal nanism can arise at nephrogenic osteopathy (see).

In addition to genetic forms, allocate cerebral To., connected with disturbance of the central regulation of growth as a result of the inborn or acquired damages of a brain (so-called cerebral To.); primordialny To., caused by disturbance of embryonic development; To., connected with nutritional deficiency, in particular at disturbance of absorption in intestines, followed steatorrhea (see). To. at chondrodystrophias (see) and imperfect bone formation it is connected with bone and joint disturbances.

Pathological anatomy

At pituitary To. in a hypothalamus and a hypophysis of changes it is not found more often, seldom find cranyopharyngioma (see) or hyperostosis (see). At gistol, a research of a front share of a hypophysis reduction of number of eosinophial cells, their pycnosis and other dystrophic changes is observed. Bones thin and brittle, the cortical layer is thinned. The delay of a differentiation and ossification of a skeleton which is one of the main manifestations pituitary To is noted. Lag of a differentiation can reach two and more years. Internals of usually small sizes. Muscles are developed poorly, the hypodermic fatty layer is a little expressed, but the excess adiposity on a stomach, hips, breasts is sometimes noted. The atrophy thyroid, milk and gonads, a uterus is observed.

Other types To., in addition to the specified signs, are characterized by the various pathoanatomical changes connected with the main disease which caused To.

Clinical manifestations

the Main symptom is the growth inhibition. Others the wedge, manifestations depend on the disease which was the reason of development To. The child with pituitary insufficiency at the birth usually has the normal growth and length and begins to lag behind in development from 2 — 4 years. At children and teenagers it is necessary to consider not so much absolute growth, how many lag in growth in relation to age norm. Gross violations of proportions of a body do not happen, however the proportions of a body inherent to children remain more often (dominance of length of a trunk over length of extremities).

If pituitary To. it is caused by the isolated insufficiency of somatotropic hormone or it biol, inactivity, and secretion and activity of other hormones of a hypophysis remain, development of hemadens in children usually is not broken; these are almost healthy people of dwarfish growth. In addition to lag in growth, at pituitary To. thinning of skin is observed; at adult patients, especially at simultaneous development of a hypothyroidism, skin pale, a yellowish shade, dry, wrinkled that gives to patients an old-looking look. Features at adults small, children's, with rather small size of a mandible. The arrest of development of a throat leads to preservation of a high timbre of a voice. Pilosis, as a rule, scanty, head hair rare, thin. Muscles are developed insufficiently, the skeleton also remains infantile. The excess adiposity on a stomach, hips and especially on a breast (false mammary glands) — so-called is sometimes observed. To. with obesity; however more often the hypodermic fatty tissue is developed poorly. Generative organs and mammary glands are underdeveloped, periods, as a rule, are absent, in some cases happens oligo-or a hypomenorrhea. Patients pituitary To. are usually fruitless.

Arterial hypotension is quite often noted. On an ECG owing to trophic disturbances of a myocardium the low voltage, decrease in height of teeth is noted.

Mental disorders can be absent or be expressed by various deviations of mentality, up to weak-mindedness of oligofrenichesky type. Most a sokhranna mentality at genetic pituitary To.; patients of this group have good intelligence, efficiency, diligence, judiciousness, and sometimes and commitment; they cope with usual for healthy loading, study or work in the specialty. However at careful inspection this or that degree of emotional lability in the form of the increased vulnerability, uneasiness and sometimes tearfulness, mental infantility can be revealed. To teenagers with pituitary To. the combination of infantilism of behavior to a premature maturity of judgments, tendency to morals is peculiar. Features of the emotional sphere of patients promote development in them of reactive states, is preferential in the form of the tearful lowered mood. Awareness of the inferiority by patients, the painful relation to special attention of people around is the cornerstone of these states. The expressed situational depressions are not characteristic, psychoses are not described.

If To. develops against the background of organic lesion of c. the N of page or is a consequence of deep endocrine shifts and chromosomal anomalies, at patients typical manifestations of organic lesion of mentality — weak-mindedness with decrease in memory and criticism on an apathetic or complacent background of mood (are observed sometimes up to an idiocy). In rather opportunities the listed phenomena can be expressed slightly. If To. it is connected with a tumor of a hypophysis, at patients can be observed nevrol. and the mental disorders characteristic of new growths in this area of a brain.

The diagnosis

the Diagnosis at adults does not represent difficulties; at children the diagnosis is made on the basis of the progressing lag in growth and delays of maturing of a skeleton that comes to light at a repeated rentgenol, a research.

At X-ray inspection, in addition to the small absolute sizes of bones, delay of emergence of kernels of ossification and bone merge of an epiphysis of tubular bones to a diaphysis or premature emergence of kernels of ossification, the perverted course of process of ossification, premature or, on the contrary, overdue overgrowing of seams between bones is found (see. Age bone ). Delay of growth of bones at pituitary To. it can be combined with timely emergence of kernels (or otherwise points) ossification of a skeleton though their synostosis can be late considerably; at a tumor of a brain appendage increase in the sizes of the Turkish saddle with expansion of a so-called entrance to the Turkish saddle, and sometimes and destruction of its walls and front wedge-shaped shoots is noted. At patients pituitary To. the disturbances of an endostosis reminding can be found osteochondropathy (see).

For establishment differential diagnosis forms K., in addition to rentgenol. researches, comprehensive inspection taking into account the anamnesis (development of the child, living conditions and food) with emphasis on detection of endocrine pathology, diseases of other bodies and systems is necessary. Laboratory researches are conducted: chromosomal analysis, determination of content and reserves of somatotropic hormone, content of other tropny hormones of a hypophysis and other researches.

Clinically for differential diagnosis the following data matter. So, e.g., a sign of all types genetic To. frequency of diseases of children of one generation (sibs) in families of almost healthy parents is; organic lesion of c. the N of page at the same time is not found. At nevrol, a research and on EEG there are signs of an arrest of development of a brain and pathology of hypothalamic area. The growth inhibition in the presence of malformations (the high sky, not fusion of lips, a shestipalost) gives the grounds, to conclude that To. is inborn.

Form K. with datum level of somatotropic hormone at it biol. inactivity it is clinically identical to a form with the isolated insufficiency of this hormone; they can be distinguished, having only determined the content of hormone, and also reaction to administration of drug of human somatotropic hormone.

At diseases of c. N of page (a tumor, inflammatory processes) along with To. changes of an eyeground, increase in intracranial pressure, epileptiform attacks, etc. are found.

To. at general diseases of a skeleton (a chondrodystrophia, imperfect bone formation, exostoses, etc.) it is characterized by the expressed disproportionate growth inhibition of a skeleton (growth of extremities considerably lags behind growth of a trunk) in the absence of endocrine and psikhich. frustration. A certain value has character of a constitution, etc.

Treatment

Treatment — process long-term; funds of stimulation of growth in time are distributed so that to gain the greatest effect at observance of two philosophy: approach of the development of an organism induced by treatment to fiziol, to conditions and the longest preservation opened epiphyseal regions of growth.

At an ambiguity etiol, the moments observation without hormonal therapy within 6 — 12 months with purpose of complex fortifying therapy is necessary: good nutrition with the increased content of animal protein, vegetables and fruit, fish oil (vitamins A and D), drugs of calcium and phosphorus, etc. Absence against the background of the strengthening therapy of sufficient shifts in growth is the basis for hormonal therapy.

Main modern remedy K. are anabolic steroids (see); they are applied within several years with gradual replacement of less active drugs with more active; change of anabolic drugs is shown usually in 2 — 3 (during the accustoming and decrease in growth effect). Scheme of treatment discontinuous: the period of rest makes about a half of term of treatment; during the accustoming breaks up to 4 — 6 months are shown.

Are applied: Methylandrostendiolum, methandrostenolone (Dianabolum, Nerobolum), Phenobolinum (nerobolil), retabolil. Principle of dosing: from minimal effective doses gradual increase in a dose. Fortifying therapy is in parallel necessary. Anabolic steroids apply until the effect (up to 16 — 18 years, and sometimes is possible growth and is longer). The greatest to lay down. the effect is observed at a panhypopituitarism, the smallest — at an inborn (primordialny) nanism. At To. cerebral genesis treatment by anabolic steroids effectively, but the term of their action is less, than at pituitary To.

At the accompanying hypothyroidism drugs of a thyroid gland at the same time are appointed. At patients with the revealed insufficiency of a growth hormone drug of somatotropic hormone of the person can be used. At To. with sexual insufficiency a necessary stage of treatment is use of a chorionic gonadotrophin which is appointed to boys not earlier than 16 years. At sensitivity to a gonadotrophin not only sexual development, but also growth is stimulated. To girls 16 years are more senior appoint small doses of estrogen, a chorionic gonadotrophin, Pregninum, progesterone (the sexual cycle is imitated). In the presence of a hypogonadism in the final stage of treatment appoint sex hormones in usual doses.

At mental disorders use of symptomatic corrective means (small tranquilizers, antidepressants, etc.), psychotherapy is shown.

Teenagers with funkts, a delay physical. development usually needs only treatment of a basic disease and fortifying therapy. In the presence of the expressed delay of a differentiation of a skeleton anabolic steroids, but short courses (no more than one month) with long breaks can be appointed. Children with low-tallness of family character do not need hormonal treatment.

The forecast

the Forecast depends on character patol. process and age, in Krom the disease began. The forecast is more favorable at To., developed at more advanced age. Patients pituitary To. in the presence of replacement therapy usually live long. The regular directed treatment leads to stimulation physical. development, contributes to normalization of exchange processes, increase in the general tone, disappearance or prevention of early old-looking nature of appearance.

Current and forecast of other forms K. depend on the diseases which caused To.

Prevention

Prevention comes down to the prevention of infectious diseases, mental and physical. injuries at pregnant women, prevention of birth craniocereberal trauma at children, to providing good sots. - a gigabyte. conditions and good nutrition.


Bibliography: Buchmann A. I. Radiodiagnosis in endocrinology, M., 1974, bibliogr.; Grollman A. Clinical endocrinology and its physiological bases, the lane with English, M., 1969; D about r-zhanekaya A. K. Mental and neurophysiological disturbances at endocrine diseases, M., 1973, bibliogr.; N. A mark. Pituitary nanism, M., 1975, bibliogr.; P e-repust L. A. X-ray inspection of bones of a skeleton at a nanism (dwarfism), Vestn, rentgenol, and radio-gramophones., Jsfi 3, page 30, 1972; The Guide to clinical endocrinology, under the editorship of V. G. Baranov, L., 1977; Sukhareva G. E. Clinical lectures on psychiatry of children's age, t. 2, page 261, M., 1959; Fankoni G. and Valg-r e of N And. The guide to children's diseases, the lane with it., page 248, M., 1960; In 1 e u-1 e of M. of Endokrinologische Psychiatrie, S. 137, Stuttgart, 1954; Labhart A. Klinik der inneren Sekretion, B. u. a., 1971; Merimee T. J. a. o. A metabolic and hormonal basis for classifynig ateliotic dwarfs, Lancet, v. 1, p. 963, 1969; Textbook of endocrinology, ed. by R. H. Williams, Philadelphia, 1974.

H. A. Zarubina; D. D. Orlovskaya (psikhiat.), S. A. Sviridov (rents.).

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