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Congenital primary hypogonadism
Last reviewed: 04.07.2025
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Causes congenital primary hypogonadism.
The cause of congenital primary hypogonadism is not clear. It is assumed that the death of the embryonic testicles occurs around the 20th week of intrauterine development of the fetus, when the urethra is already formed according to the male type, but normal development of the penis does not occur: there are no cavernous bodies, the head of the penis and the scrotum are underdeveloped, sometimes the scrotum is absent ("smooth perineum").
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Diagnostics congenital primary hypogonadism.
Diagnosis of congenital primary hypogonadism - during examination of patients, testicles are not detected either in the abdominal cavity or along the inguinal canals. Karyotype 46.XY, sex chromatin is negative. The level of gonadotropins in plasma is high, and testosterone is low. The content of 17-KS in urine is significantly reduced.
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Treatment congenital primary hypogonadism.
Treatment of congenital primary hypogonadism depends on the clinical picture, psychosexual orientation and the patient's response to androgen treatment. In case of severe underdevelopment of the penis, excluding the possibility of sexual activity, and low sensitivity to androgens, it is sometimes justified to choose the female civil (passport) sex with feminizing reconstruction of the genitals and constant estrogen replacement therapy. In case of a relatively developed penis and an adequate response to androgen therapy (injections of sustanon-250, 1 ml every 3-4 weeks intramuscularly or 10% testenate solution, 1 ml every 10 days), it is recommended to preserve the male sex and conduct androgen replacement therapy starting from puberty (from 12-13 years).