Portal de Periódicos da CAPES

17 Alpha-Hydroxylase/17,20-Lyase Deficiency: A Rare Cause of Endocrine Hypertension

1996; Elsevier BV; Volume: 312; Issue: 3 Linguagem: Inglês

10.1097/00000441-199609000-00006

1538-2990

C. HERMANS, Jean-François De Plaen, Philippe De Nayer, Dominique Maiter,

Metabolism and Genetic Disorders

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.