Congenital disorders of sexual differentiation

Congenital disorders of sexual differentiation are diseases caused by chromosomal abnormalities.

Pathogenesis. Sexual affiliation of the gonad is determined genetically and depends on the combination of populous chromosomes; Two X-chromosomes determine female, and the combination of X- and Y-chromosomes is male. For the normal function of the gonads, not only a set of chromosomes XX and XY, a full set of genes, is needed. Disorders in the set of chromosomes that have arisen when the sex chromosomes are not divergent, the loss of one chromosome or a change in the structure of the chromosomes lead to diseases characterized by a violation of sexual differentiation.

In these cases, the sex gland tissue is incapable of normal secretion of sex hormones and the development of male or female principles is determined by the elements of the genital tissue that form the gonad.

Symptoms, course. There is agonadism (congenital absence of the sexual glands), gonadal dysgenesis (individual structural elements, sex glands can be found). The symptomatology of various clinical forms of dysgenesis of the sexual glands is diverse. By external signs, the syndrome of Shereshevsky-Turner is easily diagnosed: absence of secondary sexual characteristics, underdevelopment of the mammary glands, external genital organs, short stature, short neck with pterygoid folds, often skeletal anomalies - valgus deviation of the elbow and knee joints, syndactyly, vertebrae deformity, ptosis, The sky, violations of the cardiovascular system - heart defects and large vessels. Sex chromatin is negative, karyotype is more often 46, XY.

It is more difficult to diagnose "pure gonadal dysgenesis," in which there are no somatic abnormalities characteristic of the Shereshevsky-Turner syndrome. Of great importance are the results of the study of internal genital organs: there are no gonads; Rudimentary uterus, tubes, vagina. Sex chromatin is negative, a set of chromosomes 46, XY.

With Shereshevsky-Turner syndrome and "pure gonadal dysgenesis," in some cases there may be signs of masculinization: clitoral hypertrophy, viril hair. One of the forms of gonadal dysgenesis is ovarian dysgenesis. The main symptoms: lack of menstruation, underdevelopment of secondary sexual characteristics. Dysgenesis of testicles: the presence of internal female genital organs in the absence of ovarian elements, the external genitalia are bisexual. Negative sexual chromatin, karyotype 46, XY;

Testicular feminization (false male hermaphroditism) -development of external genitalia and secondary sexual characteristics by female type, presence of male glands, absence of uterus, sexual chromatin negative, karyotype 46, XY. In some cases (with incomplete form), there may be signs of masculinization: insufficient development of the mammary glands, rough voice, clitoral hypertrophy.

Syndrome Kpinefeltera - gynecomastia, eunuchoid body proportions, underdevelopment of secondary sexual characteristics, underdevelopment of the testes at normal penile dimensions, azoospermia, decreased potency. Sex chromatin is positive, karyotype 47, XXY.

True hermaphroditism is the existence of an individual gonadal tissue of both sexes in the individual and, as a result, of female and male sexual characteristics. When studying a karyotype, it is most often defined as XX / XY.

Treatment. If necessary, the sex is adjusted taking into account the psychosexual orientation and the anatomical and functional capabilities of the sexual sphere. Replacement therapy with sex hormones, depending on the selected hearth: to enhance feminization, use estradioladipropionate, microfollin, for masculinization-teotosterone propynate, testanate, sustanon-250, omnnaren.