[Late discovery of female pseudo-hermaphroditism by complete blockade 21-hydroxylase (author's transl)].
The authors report on a case where complete blockade of 21-hydroxylase was discovered in a 40-year-old subject. They emphasize the usefulness of urinary 17-ketosteroid and 17-OH progesterone assays in the diagnosis of pseudo-hermaphroditism. In contrast to major hyperandrogenism, the HY antigen test is negative, since the percentage of fluorescent lymphocytes is even lower than in the normal female population.
D015068:17-Ketosteroids / Q000652:urine; D000312:Adrenal Hyperplasia, Congenital; D000328:Adult; D012734:Disorders of Sex Development / Q000175:diagnosis / Q000201:enzymology / Q000209:etiology* / Q000235:genetics; D005260:Female; D006801:Humans; D006908:Hydroxyprogesterones / Q000378:metabolism; D013250:Steroid Hydroxylases / Q000172:deficiency*
D015068:17-Ketosteroids; D006908:Hydroxyprogesterones; D013250:Steroid Hydroxylases
Pseudohermaphrodisme féminin à révélation tardive par blocage complet de la 21 hydroxylase.