[Disorder of 17 beta-hydroxysteroid dehydrogenase as the cause of hypergonadotropic hypogonadism in 2 siblings with primary amenorrhea].
We report on two sibs with deficiency of 17 beta-hydroxysteroid dehydrogenase. The diagnosis is based on clinical features and endocrine parameters. Main symptoms were hypergonadotrophic hypogonadism and male pseudohermaphroditism with only slight virilisation. Endocrine investigations including ACTH and hCG stimulation revealed reduced levels of estradiol and testosterone, but elevated concentrations of DHEAS and androstendione.
Wieacker
P
P
Institut für Humangenetik, Universitätsklinikum Magdeburg.
Mühlendahl
K E
KE
D015067:17-Hydroxysteroid Dehydrogenases / Q000172:deficiency* / Q000235:genetics; D000293:Adolescent; D000735:Androstenedione / Q000097:blood; D019314:Dehydroepiandrosterone Sulfate / Q000097:blood; D003937:Diagnosis, Differential; D012734:Disorders of Sex Development / Q000175:diagnosis / Q000235:genetics*; D012739:Gonadal Steroid Hormones / Q000097:blood*; D006801:Humans; D007006:Hypogonadism / Q000175:diagnosis / Q000235:genetics*; D008297:Male
D012739:Gonadal Steroid Hormones; D000735:Androstenedione; D019314:Dehydroepiandrosterone Sulfate; D015067:17-Hydroxysteroid Dehydrogenases