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Evidence for an Unidentified Steroid in a Child with Apparent Mineralocorticoid Hypertension

Department of Pediatrics, Division of Pediatric Endocrinology, Cornell University Medical College, New York, New York 10021, Medical Services, San Francisco General Hospital, University of California School of Medicine, San Francisco, California 94110, and Department of Medicine, Veterans Administration Hospital Bronx, New York 10468

A unique syndrome in a three-year-old American Indian girl was characterized by signs and symptoms of mineralocorticoid excess in the absence of excessive secretion of any known sodium-retaining steroids. Hypertension and hypokalemic alkalosis were corrected by spironolactone or a low sodium diet. Plasma renin activity was suppressed but the secretion of aldosterone was undetectable and was not stimulated by salt depletion. There was no evidence of abnormal accumulation of aldosterone precursors and metabolism of a tracer dose of the hormone was normal. Secretion rates of cortisol, corticosterone, deoxycorticosterone, deoxycortisol and aldosterone were very low and did not increase normally with ACTH administration. However, ACTH administration aggravated hypertension and hypokalemia. Dexamethasone did not improve hypertension. Despite low secretion of glucocorticoids and mineralocorticoids, the patient showed no addisonian features and survived severe illness. Secretion of a factor of adrenocortical origin was suggested by the exacerbation of the syndrome of ACTH. The unidentified factor appears to be both a potent glucocorticoid and mineralocorticoid.

Supported in part by USPHS, NIH Grants, HE 12239, HL 17749, HD 00072, HL 18323; USPHS, NIH Division of Research Facilities and Resources, Clinical Research Centers RR 47; and the National Foundation-March of Dimes Awards CRBS- 278 and 6-75150.

Nomenclature = 18-OH-DOC = 18,21-dihydroxy-4 pregnene-3,20-dione; Reichstein's Substance = 17, 21-dihydroxy-4 pregnene-3,20-dione; 18-hydroxycorticosterone = 11/3,18,21-trihydroxy-4-pregnene-3,20 dione; 18-hydroxycorticosterone= 11/3,18,21 trihydroxy 4-pregnene-3,20dione; DOC= 11-deoxycorticosterone; tetrahydro DOC = 321-dihydroxy-5/3-pregnane 20-one; tetrahydro B= 3 11/3,21 trihydroxy- 58-pregnane-20-one;16/3 hydroxydehydroepiandrosterone = 3/3,16/3 dihydroxy-5 androstene-17-one; pregnanetriol = 31720-trihydroxy-5β8-pregnane.

Nomenclature = 18-OH-DOC = 18,21-dihydroxy-4- pregnene-3,20-dione; Reichstein's Substance S= 17, 21-dihydroxy-4-pregnene-3,20-dione; 18-hydroxycorticosterone = llβ,18,21-trihydroxy-4-pregnene-3,20- dione; 18-hydroxycorticosterone = 11β18,21-trihydroxy- 4-pregnene-3,20-dione; DOC = 11-deoxycorticosterone; tetrahydro DOC = 3,21-dihydroxy-5/3-pregnane- 20-one; tetrahydro B = 3 11β21-trihydroxy- 58-pregnane-20-one; 16/3-hydroxydehydroepiandrosterone = 3/3,16/3-dihydroxy-5-androstene-17-one; pregnanetriol = 31720-trihydroxy-5β-pregnane.

Received August 3, 1976.

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