TESTICULAR FEMINIZATION (Latin testiculus men's small egg; lat. femina woman; synonym: Morris's syndrome, syndrome of testicular feminization) — hereditary option of a men's pseudohermaphroditism, at Krom at patients a genotype men's (46 XY), and a phenotype women's.
On degree of manifestation of oestrogenic and androgenic impact on formation of a phenotype it is accepted to allocate full and incomplete (with elements of an androgenization) forms T. t. Morfol. changes at T. t. are for the first time described by Steglener (G. Steglehner, 1817), in the Russian medical literature this pathology is for the first time described by S. I. Blagovolin in 1893. The term «testicular feminization» is entered in 1953 by Morris (J. M of Morris).
Because in many cases of T. t. remains not distinguished, assessment of its prevalence among the population considerably varies. By data Ying-that experimental endocrinology and chemistry of hormones of the USSR Academy of Medical Sciences, T. t. makes apprx. 5% of all forms hermaphroditism (see).
Mode of inheritance of T. t. recessive, linked to a floor. Cases in several generations of the same family are frequent. Genetic defect is shown by decrease in sensitivity of target tissues to androgens or insufficient activity 5 - alpha reductases (4,5 alpha dihydrosteroid: NADF-A4-oxidoreductase, KF 126.96.36.199), owing to what in skin of the patient transformation of testosterone into dihydrotestosterone is broken (see. Testosterone ). Sensitivity of peripheral fabrics to estrogen at the same time remains.
Formation of initial symptoms of a disease happens at early stages of a morphogenesis of generative organs between the 12th and 20th weeks of pre-natal fetation.
Embryonal testicles of these patients have the «antimyullerovy» effect leading to an atrophy of myullerovy channels therefore at T. t. there are no uterus, uterine tubes and an upper third of a vagina. Owing to disturbance of sensitivity of fabrics to androgens (or disturbances of biosynthesis of testosterone) the masculinization of external genitals does not occur and they keep a «neutral» (female) structure. In case of preservation of partial sensitivity to androgens elements of a masculinization of external genitals — an incomplete form T can be shown. t. At pubertal age at full T. t. development of sexual pilosis according to a gonadal floor does not happen; at incomplete T. t. sexual pilosis (though poorly expressed) can develop in usual terms on men's type. Mammary glands develop timely. Formation of a skeleton happens according to usual terms of maturing. Average height of patients with T. t. corresponds to the average height of the man.
Main sign of T. t. discrepancy between a gonadal floor (existence of testicles) and a phenotype is: the constitution is women's, mammary glands are developed well. The vagina represents the shortened «cul-de-sac» from 1,5 to 6 cm in depth, the uterus and uterine tubes are absent. At an incomplete form T. t. external genitals have the lines of an incomplete masculinization expressed in different degree: a hypertrophied clitoris, the incomplete closing of a seam of a scrotum creating an urogenital sine, moshonkoobrazny big lips, shortened as at a full form T. t., vagina. At a full form T. t. structure of external genitals women's.
Gonads at T. t. represent correctly created testicles which are located in an abdominal cavity or on the course of inguinal channels or in the split scrotum — «big vulvar lips». The epididymis and deferent ducts remain, however the last open in anticipation of a vagina at the level of vaginal opening (a hymenal ring). The thickening of a white of testicles, existence of a large number of enough large, deprived gleams of seed tubules with the thickened and hyalinized basal membrane is histologically characteristic. The epithelium of seed tubules is presented by not numerous sex cells and Sertoli's cells. Extent of development of cells of Sertoli depends on quantity and a condition of germinative elements: in the presence of several spermatogoniyev in a tubule of a cell of Sertoli happen preferential high-differentiated type; in the absence of gonocytes of a cell of Sertoli remain undifferentiated. In a number of tubules development of gonocytes to a stage of spermatocytes of I and II orders can be observed, very seldom there is a formation of spermatids; spermatogenesis (see) is absent.
A wedge, manifestations come down hl. obr. to lack of periods and sexual pilosis. Serious complication of T. t. development of hormonal and dependent tumors of testicles is (androblastomas, seminomas, leydigomas, etc.). At not diagnosed disease during the first sexual intercourse quite often there is a damage of tissues of crotch. Also inborn inguinal hernias are observed. At the patients informed on the disease development of psychopatholike reactions up to suicide attempts is possible. A psychosexual autoidentifikation and an orientation at a full form T. t. women's since any somneniyo belonging to a female since the birth neither at the patient, nor at people around usually does not arise. At patients from incomplete T. t. quite often there is an uncertainty in a sex. Sexual desire most often consciously is suppressed.
Full form T. t. at the birth usually do not diagnose since a structure of external genitals of the newborn women's. At children's age the diagnosis is quite often made by the surgeon at herniotomy when in a hernial bag of the girl find a small egg. At pubertal age the main symptom is lack of periods and sexual pilosis at well developed mammary glands and a female phenotype.
Differential diagnosis carry out with Rokitansky's syndrome — Kyustera and other forms of primary amenorrhea (see). Lack of a sex chromatin characteristic of sick T. t., is one of important differential diagnostic characters. At differential diagnosis with a pure form of a dysgenesis of gonads (ovaries) and a dysgenesis of testicles the main diagnostic character of T. t. lack of a uterus is.
Incomplete form T. t. diagnose right after the birth on an abnormal structure of external genitals. It needs to be differentiated with a syndrome of an incomplete masculinization. Without definition of sensitivity of target tissues to androgens and estrogen in to - pubertal age it is almost impossible to distinguish them, especially at an ekstraabdominalny arrangement of testicles. At pubertal age at an incomplete form T. t. unlike a syndrome of an incomplete masculinization development of secondary female sexual characters (mammary glands and sexual pilosis, etc.)* is observed. Unlike other forms hermaphroditism (see) — a syndrome of a dysgenesis of testicles, inborn dysfunction of bark of adrenal glands, a syndrome of a gonadalny bisexuality (a true hermaphroditism), at an incomplete form T. t. there is no uterus, a vagina short and «blind».
Treatment includes correction of external genitals at an incomplete form T. t. At a full form T. t. before a marriage make a colpopoiesis (see). The most effective technique is formation of a vagina from a sigmoid gut. At detection of testicles in the inguinal channel or more thickly than big vulvar lips nek-ry specialists recommend to move them under skin of a stomach that allows to watch the sizes of testicles. Castration is made only in the presence of tumors or increase of signs of a masculinization since removal of testicles at T. t. can lead to development of a heavy postkastratsionny syndrome (see) that attracts need of a replaceable estrogenoterapiya.
The forecast after surgical correction both in sexological, and in the social plan favorable. Patients with T. t. are capable to normal sex life and creation of a family. The major injuring factor influencing a condition of mentality of patients is absolute infertility.
Prevention of possible complications consists in early diagnosis of diseases, surgical correction at dopubertatny age and hormonal correction in case of removal of testicles.
Bibliography: Blagovolin S. I. Case of hermaphroditismus transversus, Works akush. - ginek. about-va, No. 2, page 2, M., 1893; The Guide to clinical endocrinology, under the editorship of V. G. Baranov, page 551, JI., 1977; Efroimson V. P. Introduction to medical genetics, M., 1968; Griffin J. E. Testicular feminization associated with a thermolabile androgen receptor in cultured human fibroblasts, J. clin. Invest., v. 64, p. 1624, 1979; J about s t A. Recherches sur le controle de l’organogenese sexuelle du lapin et re-marques sur certaines malformations de l’appareil genital humain, Gynec. et Ob-st6t., t. 49, p. 44, 1950; Labhart A. Klinik der inneren Sekretion, B. u. a., 1978; Morris J. M. The syndrome of testicular feminization in male pseudohermaphrodites, Amer. J. Obstet. Gynec., v. 65, p. 1192, 1953; Okon E. o. Male pseudohermaphroditism due to 5 alpha-reductase deficiency, Arch. Path. Lab. Med., v. 104, p. 363, 1980; Steglehner G. De hermaphroditorum natura, Lpz., 1817; Textbook of endocrinology, ed. by R. H. Williams, Philadelphia a. o., 1981.
H. V. Bobokhidze, M. E. Bronstein, I. V. Golubeva.