C. Hermans et al., CASE-REPORT - 17-ALPHA-HYDROXYLASE 17,20-LYASE DEFICIENCY - A RARE CAUSE OF ENDOCRINE HYPERTENSION/, The American journal of the medical sciences, 312(3), 1996, pp. 126-129
The combination of hypertension, hypokaliemia, and male pseudohermaphr
oditism or amenorrhea must prompt a search for a rare adrenal enzymati
c defect, 17 alpha-hydroxylase/17,20-lyase deficiency. This is a repor
t of the observation of a male patient in whom this rare deficit was d
iagnosed in adulthood on the basis of lifelong ambiguous external geni
talia, hypogonadism, severe hypertension, bilateral adrenal hyperplasi
a, and biological markers evoking an excess of mineralocorticoids with
out hyperaldosteronism.