TURNER SYNDROME (H. H. Turner, amer. endocrinologist, sort. in 1892; syndrome; synonym: Shereshevsky — Turner a syndrome, Ulrich's syndrome, a syndrome of Bonnevi — Ulrich, seksogenny dwarfism etc.) — genetically caused form of primary agonadizm (an agenesia or a dysgenesis of gonads), belongs to chromosomal diseases, is followed by characteristic anomalies of somatic development and nizkoroslostyo.
For the first time this hereditary disease (see. Hereditary diseases ) it was described in 1925 by N. A. Shereshevsky, to-ry considered that it is caused by an underdevelopment of gonads (see) and a front share hypophysis (see) it is also combined with inborn defects of somatic development. In 1938 Turner in detail described 7 patients and allocated a triad of symptoms, characteristic of this symptom complex: sexual infantility (see), skin alate folds on side surfaces of a neck and deformation of elbow joints (cubitus valgus). In the USSR it is accepted to call the described syndrome Shereshevsky's syndrome — Turner.
Frequency of occurrence of T. the page among newborns averages 0,03% (among patients with an oligophrenia the frequency of occurrence of T. the page is twice higher — 0,06%)
the Aetiology and a pathogeny
B 50 — the 60th Ford (Page E. Ford), etc. at most of the patients inspected by them with T. the page found a gonosomny monosomy 45,X, i.e. lack of one of gonosomes — X or Y (see. Chromosomal complement ). Later options T were revealed. page with structural defects of X-chromosome (deletion of a short shoulder, izo-H-hromosoma on a long shoulder, ring X-chromosome, etc.) and with chromosomal mosaicism 45,X/46, XX; 45,X/46,XY; 45,X/46,XX/47,XXX, etc. (see. Mosaicism ). Respectively to a karyotype (see) at most of patients with T. page. sex chromatin (see) is absent, at mosaic options T. the page with existence in a part of cells of a normal female karyotype 46, the XX maintenance of a sex chromatin is lowered, at structural defects of X-chromosome the sizes of H-chromatin (little bodies Burra) can be increased or reduced.
Accurate communication of emergence of T. the page and any diseases of parents is not revealed with age. However the pregnancies which are coming to an end with the birth of children with T. pages, quite often happen the complicated toxicoses of pregnant women (see), threat of an abortion. Childbirth (see) often happen premature and pathological. Features of the pregnancy and childbirth which are coming to an end with the birth of the child with T. page probably consequence of chromosomal pathology of a fruit.
Disturbance of formation of gonads at T. the page is caused by absence or structural defects of one gonosome. It is established that in that case at an embryo primitive germinative cells are put almost in normal quantity, however in the second trimester of pregnancy there is their bystry involution and by the time of the birth of the child the quantity of primordialny follicles in an ovary in comparison with norm is sharply reduced or they completely are absent. It results in the expressed oestrogenic insufficiency, a sexual underdevelopment, at most of patients — to primary amenorrhea (see) and to infertility (see).
The chromosomal imbalance as a result of lack of one of gonosomes or a part of X-chromosome is an origin of various defects of somatic development. It is possible also that the accompanying autosomal mutations play a part in emergence of malformations as there are states, somatic similar to T. page, but without visible chromosomal pathology and without sexual underdevelopment (a syndrome Nunen, separate cases of T. the page at men),
leads Lack of X-chromosome to manifestation at a number of patients with T. pages of the recessive genes located in X-chromosome that is the reason of daltonism (see. Color sight ) at such patients (men and women), insufficiency of glyukozo-6-fosfatdegidrogenazy (KF 18.104.22.168), etc. is defined by the frequency of the corresponding mutant genes in population.
At T. pages of a gonad usually represent undifferentiated connective tissue tyazh, free of gonads of elements. Less often the rudiments of ovaries (see) including an ovarian stroma, and sometimes and separate primordialny follicles meet. The last can be observed at patients with a karyotype 45,X/46,XX; 45,X/47,XXX. At a karyotype 45,X/46,XY in gonadal tyazha elements of testicles can be found (see. Small egg ) — tubules, cells of Leydiga (intersticial endokrinotsita) and Sertoli (supporting cells) and rudiments of a deferent duct (see).
Other pathoanatomical data correspond to features a wedge, manifestations. Changes of kostio-joint system — concrescense of vertebrae are most important (see. Backbone ), spina bifida (see), deformation of joints (see), shortening of metacarpal and metatarsal bones, phalanxes (see the Brush, Foot), osteoporosis (see), etc., changes of heart (see) and large vessels — coarctation of an aorta (see), not fusion of a botallov of a channel (see. Arterialny Canal), an interventricular partition, a stenosis of the mouth of an aorta, renal arteries, etc., malformations of kidneys (see) — a fused kidney, doubling of a pelvis and ureters, etc.
the Clinical picture
Lag of patients with T. the page in physical development is noticeable already since the birth. Approximately at 15 — 20% of patients with T. the page an arrest of development is observed in the pubertal period. Small length (42 — 48 cm) and body weight are characteristic of the full-term newborns (2800 — 2500 and less), i.e. the delay of physical development has pre-natal character. It served as the reason of reckoning of T. page to a primordialny nanism (see. Dwarfism ). Pathognomonic for T. pages at the birth are surplus of skin on a neck (a pterygium - a syndrome) and other defects of somatic development, especially bone and joint and cardiovascular systems, «the person of a sphinx», a lymphostasis. The general concern of newborns, disturbance of a sucking reflex, vomiting by the fountain, vomiting is characteristic of a current of the post-natal period. At early age at a part of patients note a delay of static and speech development that testifies to pathology of development of a nervous system in an embryogenesis.
The most general somatic sign at T. the page is low - tallness. Spontaneous growth of patients, as a rule, does not exceed 135 — 145 cm. Body weight is often excessive. Somatic symptoms at patients with T. page in decreasing order on the frequency of occurrence following: low-tallness (98%), the general displastich-nost (92%), a barrel-shaped thorax (75%), shortening of a neck (63%), low growth of hair on a neck (57%), the high, «Gothic» sky (56%), alate folds of skin in a neck (46%), deformation of auricles (46%), shortening of metacarpal and metatarsal bones and an aplasia of phalanxes (46%), deformation of nails (37%), valgus deformation of elbow joints (36%), multiple pigmental birthmarks (35%), a mikrognatizm (27%), a lymphostasis (24%), a ptosis (24%), epikantus (23%), heart diseases and large vessels (22%), arterial hypertension (17%), vitiligo (8%). Typical outward of patients with T. to page it is presented in fig. 1 and 2.
Radiological at T. pages the Turkish saddle and bones of a calvaria are usually not changed, only in some cases the Turkish saddle can have a peculiar form with calcification of a diaphragm, to be reduced or increased. On roentgenograms of brushes and feet the aplasia of phalanxes, a hypoplasia of metacarpal and metatarsal bones, deformation of a radiocarpal joint like Madelunga meets (see. Madelunga disease ), on roentgenograms of a backbone and thorax — synostoses of vertebrae and edges, the phenomena of hypertrophic osteoporosis. The differentiation of a skeleton moderately lags behind age norms, however by the pubertal period it progresses and usually corresponds to the actual age (see. Age bone ). Characteristic of T. the roentgenogram of a brush is submitted to page in fig. 3.
A sexual underdevelopment at T. the page differs in a certain originality. Frequent signs are geroderma (see) and moshonkoobrazny type of big vulvar lips, high crotch, underdevelopment of small vulvar lips, hymen and clitoris, funneled entrance to a vagina. At the same time a part of patients has signs of a masculinization in the form of a hypertrophy of a clitoris that is often combined with virilny pilosis on a body. Mammary glands at most of patients with T. pages are not developed, nipples are low located, widely placed, pale and pulled in (see. Mammary gland ). The developing mammary glands at T. pages have preferential fatty structure and irregular shape. Secondary pilosis appears spontaneously and happens scanty. The uterus is underdeveloped. Gonads are not developed and presented by usually connective tissue tyazha.
At T. page at men a karyotype usually normal — 46, XY; mosaicism 45, H/46, XY meets seldom. Somatic manifestations of T. page at men same, as at women, however manifestation hypogonadism (see) usually are absent.
Unlike a pituitary nanism at T. villages observe a high level of gipotalamo-pituitary activity (see. Gipotalamo-gipofizarnaya system ), what is expressed in the phenomena of vegeto-vascular dystonia (see. Orthostatic changes of blood circulation) as a syndrome of castration (see. Postkastratsionny syndrome ), in tendency to increase in the ABP at persons of young age and to obesity (see) with disturbances of a trophicity of fabrics, in characteristic changes of EEG. About the increased pituitary activity at T. pages testify the concentration of follicle-stimulating hormone exceeding norm (see), luteinizing hormone (see), somatotropic hormone (see), increase in functional reserves of adrenocorticotropic hormone (see), often increased thyritropic activity (see. Tropny hormones of a hypophysis ).
At T. pages are available noticeable changes of a dermatoglyphics (see): more often than is normal, the cross palmar fold meets, triradius t(V) is located distally, the corner of atd is increased, sharply increased the joint cristarum account.
Intelligence of most of patients with T. by page it is almost kept, the intellectual insufficiency which is available sometimes is expressed unsharply, however the frequency of an oligophrenia (see) at T. the page nevertheless is higher, than in general in population. In the mental status of patients with T. page the major role is played by a peculiar mental infantility with euphoria at good practical adaptability and social adaptation.
Diagnosis. T. the page is based on characteristic a wedge. features, definition of a sex chromatin and research of a karyotype. Importance of cytogenetic data in the cases not clear clinically, is especially big. In respect of differential diagnosis with dwarfism these determination of content in blood of triple hormones of a hypophysis, especially gonadotrophins, and EEG, change to-rykh is informative at T. page and dwarfism are various.
Treatment of patients with T. the page at the first stage consists in stimulation of growth of a body anabolic steroids (see) and other anabolic drugs. Considering big tendency of these patients to an androgenization, treatment should be carried out by minimum effective doses of anabolic steroids with breaks at regular gynecologic control. A front view of therapy big with T. the village is an estrogenization, to-ruyu it is necessary to carry out from 14 — 16 years, in the beginning is continuous before emergence of the first menstrualnopodobny bleeding, further — courses, imitating a normal menstrual cycle. Treatment leads to feminization of a constitution, development of female secondary sexual characteristics, improves a trophicity of a genital tract, doing them suitable for sex life, causes the induced periods, reduces a superactivity of gipotalamo-pituitary system, prevents development of the hypothalamic pathology proceeding as a postkastratsionny syndrome. Treatment should be carried out during all childbearing age of patients.
At T. the page at men in case of a hypogonadism is applied replacement therapy by male sex hormones (see. Androgens ).
The forecast for life at T. the page favorable, an exception are made by patients with heavy and inborn heart diseases and large vessels and with renal hypertensia. Treatment by estrogen does patients with T. pages capable to family life, however absolute majority of them remain sterile.
Bibliography: Davidenkova E. F., the Berlin D. K. and Thousands-N yu to S. F. Clinical syndromes at anomalies of gonosomes, JI., 1973; Zarubinan. A. Pituitary nanism, M., 1975; Wilkins L. Diagnosis and treatment of endocrine disturbances at children's and youthful age, the lane with English, M., 1963; Sh and r e Yu. D. Dermatoglifik's c in medicine, Vestn. USSR Academy of Medical Sciences, No. 7, page 61, 1973; Sh e r e sh e Sunday to and y N. A. To a question of a combination of ugliness to endocrinopathies, Vestn. endocrinins., t. 1, No. 4, page 296, 1925; S. E's Ford. and. lake of A sex-chromosome anomaly in a case of gonadal dysgenesis (Turner’s syndrome), Lancet, v. 1, p. 711, 1959; Labhart A. Klinik der inneren Sekretion, B. u. a., 1978; P about 1 a n i P. E., II unter W. F. a. Lennox B. Chromosomal sex in Turner’s syndrome with coarctation of the aorta, Lancet, v. 2, p. 120, 1954; Textbook of endocrinology, ed. by R. II. Williams, Philadelphia, 1981; Turner H. II. A syndrome of infantilism, congenital webbed neck, and cubitus valgus, Endocrinology, V. 23, p. 566, 19 38.
H. A. Zarubina.