11β-hydroxylase deficiency differential diagnosis

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mehrian Jafarizade, M.D [2]

Overview

11β-hydroxylase deficiencymust be differentiated from 21-hydroxylase deficiency, 17 alpha-hydroxylase deficiency, androgen insensitivity syndrome, polycystic ovarian syndrome, and adrenal tumor.

Differentiating 11β-hydroxylase deficiency from other diseases

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency classic type must be differentiated from diseases that cause ambiguous genitalia:

Disease name	Steroid status	Other laboratory	Important clinical findings
Classic type of 21-hydroxylase deficiency	Increased: 17-OHP Progesterone Androstenedione DHEA Decreased: Aldosterone Corticosterone (salt-wasting) Cortisol (simple virilizing)	Low testosterone levels	Ambigus genitalia in female Virilization in female Salt-wasting Hypotension and hyperkalemia
11-β hydroxylase deficiency	Increased: DOC 11-Deoxy-cortisol 17-hydroxy-progestrone, mild elevation Decreased: Cortisol Corticosterone Aldosterone	Low testosterone levels	Hypertension and hypokalemia Virilization
17-α hydroxylase deficiency	Increased: DOC Corticosterone Progesterone Decreased: Cortisol Aldosterone	Low testosterone levels	Hypertension Primary amenorrhea Absence of secondary sexual characteristics Minimal body hair
3β-Hydroxysteroid Dehydrogenase	Increased: DHEA 17-OH pregneno-lone Pregnenolone Decreased: Cortisol Aldosterone	Low testosterone levels	vomiting, volume depletion, hyponatremia, and hyperkalemia 46-XY infants often show undervirilization, due to a block in testosterone synthesis
Gestational hyperandrogenism	Variable levels, depends on the cause of disease	Maternal serum androgen concentrations (usually testosterone and androstenedione) are high If virilization is caused by exogenous hormone administration, the values may be low because the offending hormone is usually a synthetic steroid not measured in assays for testosterone or other androgens	Androgen excess sign and symptoms in mother History of androgen containing medication consumption during pregnancy in mother Virilization in a 46,XX individual with normal female internal anatomy Causes include maternal luteoma or theca-lutein cysts, and placental aromatase enzyme deficiency