title: [Elevated levels of plasma 4-ene steroids in a case of congenital deficiency of 3 beta-hydroxysteroid dehydrogenase].
abstract: Plasma hormones have been evaluated from birth to six months in a boy with male pseudohermaphroditism due to congenital 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) deficiency. At birth, plasma 17-hydroxyprogesterone (17-OHP) was slightly elevated while cortisol was within the normal range. Both 17-OHP and testosterone (T) were increased the fifth day. At the age of 2 months, only the baseline level of 17-hydroxypregnenolone (17-OH5P) was slightly elevated and the diagnosis of 3 beta-HSD deficiency was established in view of the excessive response of 17-OH5P and dehydroepiandrosterone (DHA) to Synacthen administration. There was an important increase of T and dihydrotestosterone in response to chorionic gonadotropin (hCG) administration while no significant variation of the other studied steroids was observed. These results suggest that the determination of plasma 17-OH5P seems to be the best tool to diagnose congenital 3 beta-HSD deficiency. The increase of 17-OHP is the result of 17-OH5P conversion in peripheral tissues. Though T response to hCG is rather normal, a partial testicular deficiency of 3 beta-HSD cannot be excluded. The ambiguous genitalia observed in this boy with normal plasma T levels might suggest that T production might have been deficient at the time when urethral-fold fusion occurred.
authors.affiliation: Fondation de Recherche en Hormonologie, Fresnes.
authors.forename: K
authors.initials: K
authors.lastname: Nahoul
authors.forename: C
authors.initials: C
authors.lastname: Perrin
authors.forename: P
authors.initials: P
authors.lastname: Leymarie
authors.forename: J C
authors.initials: JC
authors.lastname: Job
mesh_terms: D006907:17-alpha-Hydroxypregnenolone / Q000097:blood*; D019326:17-alpha-Hydroxyprogesterone; D015096:3-Hydroxysteroid Dehydrogenases / Q000172:deficiency*; D000735:Androstenedione / Q000097:blood; D003687:Dehydroepiandrosterone / Q000097:blood; D012734:Disorders of Sex Development / Q000097:blood*; D006801:Humans; D006854:Hydrocortisone / Q000097:blood; D006908:Hydroxyprogesterones / Q000097:blood*; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D013739:Testosterone / Q000097:blood*
chemical_list: D006908:Hydroxyprogesterones; D006907:17-alpha-Hydroxypregnenolone; D013739:Testosterone; D000735:Androstenedione; D003687:Dehydroepiandrosterone; D019326:17-alpha-Hydroxyprogesterone; D015096:3-Hydroxysteroid Dehydrogenases; D006854:Hydrocortisone
vernacular_title: Taux élevés des 4-ene stéroïdes plasmatiques dans un cas de déficit congénital en 3 beta-hydroxystéroïde déshydrogénase.