title: A new variant of 17 alpha-hydroxylase deficiency with hyperaldosteronism in two Japanese sisters.
abstract: We present a report on two sisters who have 17 alpha-hydroxylase deficiency with hyperaldosteronism. They have hypertension and hypergonadotropic hypogonadism. The steroid profiles suggest that they have 17 alpha-hydroxylase deficiency. In contrast to the classical biochemical findings in 17 alpha-hydroxylase deficiency, both of these patients have hyperaldosteronism. Thus this report describes a new variant of 17 alpha-hydroxylase deficiency with hyperaldosteronism. Dexamethasone suppressed the mineralocorticoid excess, including aldosterone, and improved their hypertension. In the untreated state, ACTH, instead of the renin-angiotensin system, regulated plasma aldosterone levels, but during dexamethasone treatment the renin-angiotensin system regulated these levels.
authors.affiliation: Department of Internal Medicine, School of Medicine, Shinshu University, Matsumoto, Japan.
authors.forename: S
authors.initials: S
authors.lastname: Monno
authors.forename: N
authors.initials: N
authors.lastname: Takasu
mesh_terms: D000293:Adolescent; D000312:Adrenal Hyperplasia, Congenital; D000324:Adrenocorticotropic Hormone / Q000097:blood; D001794:Blood Pressure; D003907:Dexamethasone / Q000627:therapeutic use; D005260:Female; D006801:Humans; D006929:Hyperaldosteronism / Q000188:drug therapy / Q000201:enzymology* / Q000235:genetics; D007564:Japan; D010375:Pedigree; D012083:Renin / Q000097:blood; D013250:Steroid Hydroxylases / Q000172:deficiency*
chemical_list: D003907:Dexamethasone; D000324:Adrenocorticotropic Hormone; D013250:Steroid Hydroxylases; D012083:Renin