[Study of a new case of male pseudohermaphroditism due to 17-ketosteroid reductase deficiency (author's transl)].
We studied a 17 year old patient with primary amenorrhea, hirsutixm, clitoral enlargment, poor breast development and 46, XY karyotype. The results shown in table clearly indicate a 17-ketosteroid reductase deficiency. In the view of previously described patients we can conclude that: 1) intensity of virilisation depends on both plasma testosterone and androstenedione levels; 2) importance of gynecomastia depends on plasma E2 but not E1 levels; 3) FSH levels are not correlated with circulating androgens or estrogens but presumably depends on importance of seminiferous tubules' lesions.
D015067:17-Hydroxysteroid Dehydrogenases / Q000172:deficiency*; D000293:Adolescent; D000735:Androstenedione / Q000097:blood; D012734:Disorders of Sex Development / Q000097:blood* / Q000473:pathology; D004958:Estradiol / Q000097:blood; D004970:Estrone / Q000097:blood; D005640:Follicle Stimulating Hormone / Q000097:blood; D006177:Gynecomastia / Q000097:blood; D006801:Humans; D007986:Luteinizing Hormone / Q000097:blood; D008297:Male; D013737:Testis / Q000473:pathology; D013739:Testosterone / Q000097:blood
D004970:Estrone; D013739:Testosterone; D000735:Androstenedione; D004958:Estradiol; D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone; D015067:17-Hydroxysteroid Dehydrogenases
Etude d'un nouveau cas de pseudohermaphrodisme mâle par déficit en 17-cétostéroïde réductase.