Box 4.26Other forms of congenital adrenal hyperplasia

Image ch4fb26.jpg

Image dclcc1.jpg See box 4.25

Image dclcc2.jpg CYP11B1 deficiency: very rare with an incidence of ~1 in 100 000 live births but as frequent as 1 in 5000 amongst Jews of Moroccan ancestry. Clinical presentation: virilization, similar to CYP21A2 deficiency but with additional hypertension, perhaps due to increased production of 11-deoxycortisol which has mineralocorticoid actions

Image dclcc3.jpg CYP17 deficiency: extremely rare (approximately 200 cases in the world literature) and expressed in both adrenal gland and gonad. Clinical presentation: hypertension with hypokalemia due to excessive production of mineralocorticoids; failure of pubertal development in genetic females and genetic males presenting at puberty with female external genitalia and intra-abdominal testes

Image dclcc4.jpg 3β-HSD2 deficiency: classical form leads to defective production of all steroids. Clinical presentation: adrenal failure in early infancy; moderate virilization in females; varying degress of genital ambiguity in males; mild, non-classical form may present with hirsutism and oligomenorrhea

Image dclcc5.jpg StAR protein defect: loss of all steroidogenic capacity in adrenal gland and gonad. Clinical presentation: adrenal failure in early infancy; genetic males have female external genitalia (loss of androgens); frequently fatal if undiagnosed

From: Chapter 4, The adrenal gland

Cover of Endocrinology
Endocrinology: An Integrated Approach.
Nussey S, Whitehead S.
Copyright © 2001, BIOS Scientific Publishers Limited.

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