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A Consequence of 17-Hydroxylase Deficiency

Chawalit Preeyasombat, MD; Ninlawan Pitchayayothin, BSc; Arporn Viravekin, BSc

Am J Dis Child. 1976;130(10):1143-1145.

Abstract
• A 4-year-old girl had abdominal distention, muscular weakness, renal tubular dysfunction, and hypertension associated with hypokalemic metabolic alkalosis. There were no clinical symptoms of cortisol deficiency, but there was excessive deoxycorticosterone and corticosterone production. Basal plasma aldosterone levels were undetectable; however, adrenocorticotropic hormone (ACTH) stimulation brought plasma aldosterone levels up to normal. The urinary pregnanediol, tetrahydro-deoxycorticosterone (THDOC), and tetrahydrocorticosterone (THB) concentrations were elevated. Stimulation of ACTH failed to increase urinary 17-ketosteroid, 17-hydroxycorticosteroid, or plasma cortisol levels significantly, while urinary THDOC, THB, and plasma corticosterone concentrations were further elevated. The elevated plasma corticosteroid intermediates were suppressed by dexamethasone administration. When physiologic doses of dexamethasone were administered, the hypertension, electrolyte imbalance, and abnormal corticosteroid secretion were all corrected. The studies indicated a partial 17-hydroxylase defect in this patient.

(Am J Dis Child 130:1143-1145, 1976)

Author Affiliations
From the Department of Pediatrics, Ramathibodi Hospital Medical School, Mahidol University, Bangkok, Thailand.

Footnotes
Reprint requests to Faculty of Medicine, Ramathibodi Hospital, Rama Vi Rd, Bangkok 4, Thailand (Dr Preeyasombat).

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