Case report: 17 alpha-hydroxylase/17,20-lyase deficiency: a rare cause of endocrine hypertension.
The combination of hypertension, hypokaliemia, and male pseudohermaphroditism or amenorrhea must prompt a search for a rare adrenal enzymatic defect, 17 alpha-hydroxylase/17,20-lyase deficiency. This is a report of the observation of a male patient in whom this rare deficit was diagnosed in adulthood on the basis of lifelong ambiguous external genitalia, hypogonadism, severe hypertension, bilateral adrenal hyperplasia, and biological markers evoking an excess of mineralocorticoids without hyperaldosteronism.
Hermans
C
C
Division of Endocrinology, Cliniques Universitaires, Bruxelles, Belgium.
de Plaen
J F
JF
de Nayer
P
P
Maiter
D
D
D000307:Adrenal Gland Diseases / Q000209:etiology*; D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis* / Q000188:drug therapy; D000324:Adrenocorticotropic Hormone / Q000627:therapeutic use; D000328:Adult; D000446:Aldehyde-Lyases / Q000172:deficiency*; D003577:Cytochrome P-450 Enzyme System / Q000172:deficiency*; D012734:Disorders of Sex Development / Q000188:drug therapy / Q000209:etiology*; D006801:Humans; D006973:Hypertension / Q000188:drug therapy / Q000209:etiology*; D011188:Potassium / Q000097:blood; D013254:Steroid 17-alpha-Hydroxylase; D013256:Steroids / Q000097:blood
D013256:Steroids; D000324:Adrenocorticotropic Hormone; D003577:Cytochrome P-450 Enzyme System; D013254:Steroid 17-alpha-Hydroxylase; D000446:Aldehyde-Lyases; D011188:Potassium