Congenital disorders of sexual differentiation - manifestations and treatment

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

Gene mutations and various chromosomal aberrations, contributing to a change in hormone receptor in the embryonic period or hormonal imbalance may cause a variety of congenital anomalies of sexual development. Also 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.

Sexual affiliation of the gonad is determined genetically and directly depends on the combination of sex chromosomes: the combination of X and Y chromosomes determine the male sex, and the two X chromosomes are female. For the normal functioning of the gonads, it is necessary not only to have a set of XX and XY chromosomes, but also a complete set of genes. Deviations in the set of chromosomes, due to non-separation of sex chromosomes, changes in chromosome structure, loss of one chromosome lead to diseases that are characterized by violation of sexual differentiation. In such cases, gonadal tissue is not capable of the normal development of sex hormones and the development of female / male started due to an element of sexual tissue forming the gonad

course and

symptoms observed gonadal dysgenesis( may be present individual structural elements of the sex glands), or agonadism( congenital complete absenceSex glands).In various clinical forms of dysgenesis of the sex glands, the symptomatology is diverse. According to external signs, it is easy enough to diagnose Shereshevsky-Turner syndrome: underdeveloped mammary glands and external genitalia, there are no secondary sexual characteristics, a short neck, short stature;Often there are abnormalities of the skeleton( syndactyly, valgus deviation of the knee and elbow joints, deformation of the vertebrae, high palate, ptosis);Disorders of the cardiovascular system( malformations of large vessels and heart).

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

Treatment

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

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