21-hydroxylase deficiency differential diagnosis

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Mehrian Jafarizade, M.D [2]

Overview

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency must be differentiated from 11-β hydroxylase deficiency, 17-α hydroxylase deficiency, androgen insensitivity syndrome, 3β-Hydroxysteroid Dehydrogenase, polycystic ovarian syndrome, hyperprolactinemia, cushing syndrome, and adrenal tumor.

Differentiating congenital adrenal hyperplasia due to 21-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	Ambigus genitalia in female Hypertension and hypokalemia Virilization
17-α hydroxylase deficiency	Increased: DOC Corticosterone Progesterone Decreased: Cortisol Aldosterone	Low testosterone levels Not elevated any type of androgens	Ambigus genitalia in male 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	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

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency Non-classic type must be differentiated from diseases that cause virilization and hirsutism in female:

Disease name	Steroid status	Other laboratory	Important clinical findings
Non-classic type of 21-hydroxylase deficiency	Increased: 17-OHP Exaggerated androstene-dione, DHEA, and 17-OHP response to ACTH	Low testosterone levels	No symptoms in infancy and male virilization in females
11-β hydroxylase deficiency	Increased: DOC 11-Deoxy- cortisol 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	Salt-wasting adrenal crises in infancy Mild virilization of genetically female infants Undervirilization of genetically male infants, making it the only form of CAH which can cause ambiguous genitalia in both genetic sexes.
Polycystic ovary syndrome	High DHEAS and androstenedione levels	Low testosterone levels	Polycystic ovaries in sonography Obesity PCOS is the most common cause of hirsutism in women No evidence another diagnosis
Adrenal tumors	Variable levels depends on tumor type	Low testosterone level	Older age Rapidly progressive symptoms
Ovarian virilizing tumor	Variable levels depends on tumor type	Testosterone is high	Older age Rapidly progressive symptoms
Cushing's syndrome	Increase cortisol & metabolites Variable other steroids	Variable mineralocorticoid excess	Cushingoid features
Hyperprolactinemia	Normal levels of most of steroids	Increased prolactin	Infertility, galactorrea