Case report: 17 alpha-hydroxylase/17,20-lyase deficiency: a rare cause of endocrine hypertension

The combination of hypertension, hypokaliemia, and male pseudohermaphroditism or amenorrhea must prompt a search for a rare adrenal enzymatic defect, 17 alpha-hydroxylase/17,20-lyase deficiency. This is a report of the observation of a male patient in whom this rare deficit was diagnosed in adulthoo...

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Bibliographic Details
Published in:The American journal of the medical sciences 1996-09, Vol.312 (3), p.126-129
Main Authors: Hermans, C, de Plaen, J F, de Nayer, P, Maiter, D
Format: Article
Language:English
Subjects:
Adrenal Gland Diseases - etiology
Adrenal Hyperplasia, Congenital - diagnosis
Adrenal Hyperplasia, Congenital - drug therapy
Adrenocorticotropic Hormone - therapeutic use
Adult
Aldehyde-Lyases - deficiency
Cytochrome P-450 Enzyme System - deficiency
Disorders of Sex Development - drug therapy
Disorders of Sex Development - etiology
Humans
Hypertension - drug therapy
Hypertension - etiology
Potassium - blood
Steroid 17-alpha-Hydroxylase
Steroids - blood
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Summary:The combination of hypertension, hypokaliemia, and male pseudohermaphroditism or amenorrhea must prompt a search for a rare adrenal enzymatic defect, 17 alpha-hydroxylase/17,20-lyase deficiency. This is a report of the observation of a male patient in whom this rare deficit was diagnosed in adulthood on the basis of lifelong ambiguous external genitalia, hypogonadism, severe hypertension, bilateral adrenal hyperplasia, and biological markers evoking an excess of mineralocorticoids without hyperaldosteronism.
ISSN:0002-9629
DOI:10.1016/s0002-9629(15)41777-x