Studies in a phenotypic female with 17-alpha-hydroxylase deficiency.
J Pediatr, 1976/9;89(3):395-400.
Kershnar AK, Borut D, Kogut MD, Biglieri EG, Schambelan M
PMID: 182944
Impact factor: 6.314
Abstract
In a 19-year-old phenotypic female (46, XY) with hypertension and hypokalemia, studies confirmed 17-alpha-hydroxylase deficiency. Prior to diagnosis she had been considered to have testicular feminization. Increased plasma progesterone and urinary pregnanediol levels were present before treatment. Increased secretion rates of deoxycorticosterone and corticosterone and abnormally low production of cortisol and aldosterone were present. Following treatment with hydrocortisone, plasma progesterone, serum potassium, and urinary pregnanediol levels and DOC and B secretions were normal. Aldosterone secretion six months after treatment remained low. Normal blood pressure measurements were achieved during treatment with hydrocortisone and oral estrogen with the patient at rest; however, mild elevations in blood pressure (130/90 mm Hg) have been noted despite continued hydrocortisone therapy.
MeSH terms
Adult; Aldosterone; Androgen-Insensitivity Syndrome; Blood Pressure; Corticosterone; Estrogens, Conjugated (USP); Female; Humans; Hydrocortisone; Phenotype; Potassium; Pregnanediol; Progesterone; Steroid Hydroxylases
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