17 alpha-hydroxylation deficiency.
Cases of sexual immaturity and male pseudohermaphroditism due to disorders such as androgen resistance, 5 alpha-reductase deficiency, cholesterol desmolase deficiency, 3 beta-hydroxysteroid dehydrogenase deficiency, and testicular and ovary dysgenesis can easily be distinguished from 17 alpha-OHD. None of these disturbances result in hypertension. In the only other form of juvenile hypertension due to congenital adrenal hyperplasia, 11 beta-OHD, androgen excess leads to female pseudohermaphroditism and precocious puberty in the male patient. Patients with dexamethasone-suppressible hyperaldosteronism present with no sexual abnormalities. A diagnosis of 17 alpha-OHD can be readily assumed in the female patient with primary amenorrhea, hypertension, and hypokalemia. The absence of aldosterone, a measurement that is readily available, establishes this diagnosis even without the measurement of DOC.
Biglieri
E G
EG
University of California, School of Medicine, San Francisco.
Kater
C E
CE
D000293:Adolescent; D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis / Q000201:enzymology / Q000473:pathology / Q000503:physiopathology / Q000628:therapy; D000328:Adult; D000450:Aldosterone / Q000096:biosynthesis; D002648:Child; D005260:Female; D006801:Humans; D006973:Hypertension; D008297:Male
D000450:Aldosterone