Possible hyperaldosteronism and discrepancy in enzyme activity deficiency in adrenal and gonadal glands in Japanese patients with 17 alpha-hydroxylase deficiency.
We reviewed the pathophysiology of our previously reported female patient who had glucocorticoid-responsive hyperaldosteronism and was treated successfully with daily dose of dexamethasone (Dex) for 21 years. In this present study, the possibility that the patient may have 17 alpha-hydroxylase deficiency (17-OH-D) mainly in the adrenal could not be ruled out. We therefore reviewed 31 Japanese patients diagnosed as having 17-OH-D with suppressed plasma renin activity reported in Japan. Among these patients, 9 were found to have a high plasma aldosterone (Ald) concentration (PAC) (group I). Twenty-one patients had either normal or low-normal PAC and the remaining patient had low urine Ald (group II). The slight cross-reactivity of the anti-Ald-antibodies used with 17-deoxy-steroids such as progesterone, 11-deoxycorticosterone and corticosterone which were increased in both groups did not explain the increased PAC in group I. In the patients in group I and group II with high-normal basal PAC, PAC further increased after ACTH and was suppressed by Dex. PAC in 2 group I patients, however, did not respond to angiotensin-II or angiotensin-III infusion. PAC in patients in group II with low or low-normal basal PAC responded equivocally to ACTH and Dex. The basal plasma cortisol in group I was lower than in group II, and plasma cortisol level after ACTH in group I appeared to remain at a lower level than that in group II patients. Among the study subjects, 28 showed a negative correlation between basal PAC and plasma cortisol. A possible discrepancy in the deficiency of 17 alpha-hydroxylase activity in adrenal and gonadal glands was also suggested in three 17-OH-D patients. The pathophysiology of Ald secretion and discrepancy in the deficiency of the enzyme activities in both glands in 17-OH-D patients was discussed.
Yamakita
N
N
Third Department of Internal Medicine, Gifu University School of Medicine, Japan.
Murase
H
H
Yasuda
K
K
Noritake
N
N
Mercado-Asis
L B
LB
Miura
K
K
D000293:Adolescent; D000311:Adrenal Glands / Q000201:enzymology*; D000312:Adrenal Hyperplasia, Congenital; D000324:Adrenocorticotropic Hormone; D000328:Adult; D000450:Aldosterone / Q000097:blood; D000809:Angiotensins; D003907:Dexamethasone / Q000627:therapeutic use; D005260:Female; D005500:Follow-Up Studies; D006728:Hormones / Q000097:blood; D006801:Humans; D006929:Hyperaldosteronism / Q000201:enzymology*; D008297:Male; D008875:Middle Aged; D010053:Ovary / Q000201:enzymology*; D012083:Renin / Q000097:blood; D013250:Steroid Hydroxylases; D013737:Testis / Q000201:enzymology*
D000809:Angiotensins; D006728:Hormones; D000450:Aldosterone; D003907:Dexamethasone; D000324:Adrenocorticotropic Hormone; D013250:Steroid Hydroxylases; D012083:Renin