• PMID: 127543
• Gene Name: HSD17B1
• Condition: Male pseudohermaphroditism
• Association: Serum gonadotropins LH and FSH are increased. This report contrast with other cases of 17 beta hydroxysteroid deshydrogenase deficiency and with the testicular feminization in which E2 and FSH levels are normal. This underline the importance of T in the L
• Population size: 1
• Population details: 1 male pseudohermaphrodite
• Sex: Male
• Infertility type: Male infertility
• Associated genes: LH, FSH, 17 beta hydroxysteroid dehydrogenase
• Other associated phenotypes: Male pseudohermaphroditism

[Proceedings: Male pseudohermaphroditism due to testicular 17 beta hydroxysteroid deshydrogenase deficiency (author's transl)]

Schaison G, Gilbert-Dreyfus.

A new case of 17 beta hydroxysteroid deshydrogenase deficiency is reported. In venous blood, dehydroepiandrosterone (DHA) level is normal, but the level of basal testosterone (T) is low, and delta 4 androstenedione (delta 4 A) is ten times higher than the normal level. The increase of delta4AT is characteristic after chorionic gonadotropin stimulation and over more in spermatic venous blood. Estrone (E1) produced from delta 4 A is high but estradiol (E2) level is equally low in systemic circulation and spermatic venous blood. This increase of plasmatic E2 is the witness of disturbance of E1 conversion into E2 as well as delta 4 conversion into T. It is an explantation of the lack of gynecomastia in this case. Serum gonadotropins LH and FSH are increased. This report contrast with other cases of 17 beta hydroxysteroid deshydrogenase deficiency and with the testicular feminization in which E2 and FSH levels are normal. This underline the importance of T in the LH regulation and the one of E2 in FSH control. FAU - Schaison, G AU - Schaison G