What is the Lack of Sexual Development in Girls?
Lack of sexual development is usually a consequence of gonadal dysgenesis due to a birth defect in the sex chromosomes.
Ovarian tissue with this pathology is practically absent, which becomes the cause of severe insufficiency of sex hormones.
There is a typical form of gonadal dysgenesis, or Shereshevsky-Turner syndrome, a pure form of gonadal dysgenesis and a mixed form of gonadal dysgenesis.
Children with Shereshevsky-Turner syndrome are born with low body weight, sometimes there is lymphatic edema of the feet and hands, pterygoid folds on the neck, as well as malformations of internal organs, low-set ears, high (Gothic) upper palate, low hairline on the neck, widely spaced nipples of the mammary glands. The growth of these patients does not exceed 150 cm. In puberty, secondary sexual characteristics do not appear. In place of the uterus and ovaries, connective tissue cords are determined. A hormonal study shows a sharp decrease in the level of estrogen and androgen in the blood and a significant increase in the content of LH and FSH. Karyotype 45, X, 45, X / 46XX.
Children with a pure form of gonadal dysgenesis have a female phenotype with normal or higher growth, pronounced sexual infantilism without somatic anomalies. Karyotype 46, XX or 45, XY (Svayer syndrome).
With a mixed form of gonadal dysgenesis, the growth is normal, the body is intersexual, there are no somatic abnormalities, but there are signs of virilization of the external genitalia (clitoral hypertrophy, persistence of the urogenital sinus). The most common karyotype is 45, X / 46, XY.
Treatment for the Lack of Sexual Development in Girls
Treatment depends on the form of gonadal dysgenesis and karyotype. With Shereshevsky-Turner syndrome and a pure form of gonadal dysgenesis with karyotype 46, XX, hormone replacement therapy is performed. Patients with a mixed form of gonadal dysgenesis and Swyer syndrome are shown bilateral gonadectomy due to the frequent malignancy of the gonads with subsequent hormone replacement therapy with synthetic progestins.