Possible hyperaldosteronism and discrepancy in enzyme activity deficiency in adrenal and gonadal glands in Japanese patients with 17 alpha-hydroxylase deficiency.

Abstract

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.

• Authors: N Yamakita, H Murase, K Yasuda, N Noritake, L B Mercado-Asis, K Miura
• Journal: Endocrinologia japonica (Endocrinol Jpn) Vol. 36 Issue 4 Pg. 515-36 (Aug 1989) ISSN: 0013-7219 [Print] Japan
• PMID: 2555148 (Publication Type: Case Reports, Comparative Study, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Angiotensins
• Hormones
• Aldosterone
• Dexamethasone
• Adrenocorticotropic Hormone
• Steroid Hydroxylases
• Renin

Topics

• Adolescent
• Adrenal Glands (enzymology)
• Adrenal Hyperplasia, Congenital
• Adrenocorticotropic Hormone
• Adult
• Aldosterone (blood)
• Angiotensins
• Dexamethasone (therapeutic use)
• Female
• Follow-Up Studies
• Hormones (blood)
• Humans
• Hyperaldosteronism (enzymology)
• Male
• Middle Aged
• Ovary (enzymology)
• Renin (blood)
• Steroid Hydroxylases
• Testis (enzymology)