A Case of Glucocorticoid-Responsive Hyperaldosteronism : Follow-up Study for 21 Years

Abstract

A study of the pathophysiology in our previously reported case of glucocorticoid-responsive hyperaldosteronism (Case E.H., 17 yrs old, female; JCEM, 28: 1807, 1968), who had undergone a long-term successful treatment for 21 yrs of daily 0.5 mg dexamethasone (Dex), suggested again that the patient had 17 alpha-hydroxylase deficiency (17-OH-D) in the adrenal with minimum enzyme deficiency in the ovary. When Case E.H. was injected with zinc-ACTH for 3 days with daily 0.5 mg Dex administration, plasma levels of 17-deoxy-steroids were moderately or dramatically increased, but those of 17 alpha-hydroxy-steroids (17-OH-steroids) responded poorly or not at all. Plasma level of estradiol and urine estrogens were found to be normal in repeated measurements. Plasma basal levels of LH and FSH were normal, and their responses to LH-RH were high normal or slightly exaggerated. Her menstruation was almost regular, and the basal body temperature was at least biphasic with daily 0.5 mg Dex treatment. However, she did not become pregnant during the 17 yrs of her married life. Then, we surveyed 31 Japanese cases of 17-OH-D with suppressed plasma renin activity (PRA) to ascertain whether similar patients to our case, 17-OH-D with suppressed PRA and with hyperaldosteronism, has been reported or not. In this survey work, 9 such cases were found to have high plasma aldosterone (Ald) concentration (PAC) (group I). The other 21 cases had normal or low normal PAC, and the one remaining case had low urine Ald (group II). 17-Deoxy-steroids such as corticosterone, 11-deoxycorticosterone and progesterone, which were elevated in this disorder, were added to control plasma, and PAC was measured with Dainabot's "ALDOSTERONE.RIAKIT" used for the measurement of PAC in all group I patients. With the total of large amounts of 600 ng of these 17-deoxy-steroids (200 ng for each), however, the incremental PAC value was much less than the lowest PAC value in patients of group I. PAC of one group I patient was measured directly by "ALDOSTERONE.RIAKIT" and also by RIA after extraction and purification procedure using LH-20 column chromatography. The PAC values obtained by both methods were high and the same (285 pg/ml). In 5 out of 22 group II patients, PAC was also measured with the same RIA kit "ALDOSTERONE.RIAKIT" mentioned above, and yet it was low or low normal.(ABSTRACT TRUNCATED AT 400 WORDS)

Systematic Review of Therapeutic Agents and Long-Term Outcomes of Familial Hyperaldosteronism Type 1

“…The following search strategy was applied to all 5 databases: “glucocorticoid-remediable aldosteronism” OR “familial hyperaldosteronism type 1” OR “dexamethasone-suppressible hyperaldosteronism” OR “dexamethasone-suppressible aldosteronism” OR “glucocorticoid-suppressible aldosteronism” OR “glucocorticoid-suppressible hyperaldosteronism” OR “glucocorticoid-remediable hyperaldosteronism.” Search limits to “human” or “humans” studies were employed. The earliest case reports and series of cases with FH1 described before commonly used nomenclature were manually added alongside follow-up papers 13–16 after review and verification of reference lists.…”

“…A total of 1578 studies were identified, and 928 duplicates were removed (Figure). With the addition of the earliest studies describing patients with FH1 before diagnostic nomenclature and their follow-up articles, [13][14][15][16] 654 unique studies were identified for screening. Title and abstract screening excluded an additional 527 articles.…”

“…Search limits to "human" or "humans" studies were employed. The earliest case reports and series of cases with FH1 described before commonly used nomenclature were manually added alongside follow-up papers [13][14][15][16] after review and verification of reference lists.…”