17 alpha-hydroxylation deficiency.

Abstract

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.

• Authors: E G Biglieri, C E Kater
• Journal: Endocrinology and metabolism clinics of North America (Endocrinol Metab Clin North Am) Vol. 20 Issue 2 Pg. 257-68 (Jun 1991) ISSN: 0889-8529 [Print] United States
• PMID: 1879398 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S., Review)

Chemical References

• Aldosterone

Topics

• Adolescent
• Adrenal Hyperplasia, Congenital (diagnosis, enzymology, pathology, physiopathology, therapy)
• Adult
• Aldosterone (biosynthesis)
• Child
• Female
• Humans
• Hypertension
• Male