Endocrine diseases

Congenital disorders of sexual differentiation - symptoms and treatment

Congenital disorders of sexual differentiation - symptoms and treatment

congenital disorders of sexual differentiation Congenital disorders of sexual differentiation - a group of endocrine diseases caused by chromosomal abnormalities and complex for early diagnosis and treatment.In infants and young children, to evaluate the development internal and external genitalia is very difficult, therefore, to judge the nature of the congenital disorders of sexual differentiation in most cases only after the application of the whole system of different methods.However, even this is not enough and we have to just wait, in which side will formation.

Gene mutations and various chromosomal aberrations, contributing to a change in hormone receptors in the embryonic period, or hormonal imbalance may cause a variety of congenital anomalies of sexual development.Congenital disorders of sexual differentiation, along with gene mutations and chromosomal aberrations (quantitative or structural), can be caused embryotoxic factors (drugs, intoxication, trauma,

infection) and hormonal imbalance during pregnancy.

gonadal sex is genetically determined and depends on a combination of sex chromosomes: the combination of X and Y chromosomes determine the male sex, and the two X chromosomes - the female.For the normal functioning of the sex glands, you must have not only a set of XX and XY chromosomes, but also a complete set of genes.Deviations in the set of chromosomes, resulting from nondisjunction of sex chromosomes, changes in the structure of chromosomes, the loss of one chromosome lead to diseases, which are characterized by disorders of sexual differentiation.In such cases, the tissue of sexual glands incapable of normal production of sex hormones and the development of female / male started due to an element of sexual tissue forming gonad

flow and symptoms

observed gonadal dysgenesis (may attend individual structural elements of the sex glands), or agonadism(congenital complete absence of sex glands).Different clinical forms of dysgenesis gonads varied symptoms.According to the external features, is easy enough to diagnose the syndrome Shereshevskii - Turner: underdeveloped breasts and vulva, no secondary sexual characteristics, short neck, short stature;often found skeletal anomalies (syndactyly, hallux deviation of knee and elbow joints, vertebral deformity, high palate, ptosis);violation of cardio - vascular system (major defects of the heart and blood vessels).

Due to the lack of somatic abnormalities, characteristic of the syndrome Shereshevskii - Turner, is much more difficult to diagnose so-called "pure gonadal dysgenesis."In this form of diagnosis is based on studies of internal genitals


Given psychosexual orientation, as well as functional and anatomical possibilities of the sexual sphere - the correction of sex.Depending on the floor, appointed replacement therapy sex hormones: for masculinization - drugs prescribed testosterone, used to enhance the feminization of ethinyl estradiol, estradiol dipropionate.

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