Hirsutism differential diagnosis

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Ogheneochuko Ajari, MB.BS, MS [2], Rasam Hajiannasab M.D.[3], Ahmed Elsaiey, MBBCH [4]

Overview

Hirsutism must be differentiated based on the different diseases causing hirsutism such as 21-hydroxylase deficiency, 11-β hydroxylase deficiency, 3 beta-hydroxysteroid dehydrogenase deficiency, polycystic ovary syndrome , cushing's syndrome, and hyperprolactinemia.

Differential Diagnosis

The diagnosis of hirsutism requires the exclusion of related disorders with peripheral androgen activity. Hirsutism starts shortly after puberty with a slow course and progression. Hirsutism must be differentiated based on the different diseases causing hirsutism such as 21-hydroxylase deficiency, 11-β hydroxylase deficiency, 3 beta-hydroxysteroid dehydrogenase deficiency, polycystic ovary syndrome , cushing's syndrome, and hyperprolactinemia.

Disease name	Steroid status	Other laboratory	Important clinical findings
Non-classic type of 21-hydroxylase deficiency	Increased: 17-hydroxyprogesterone Exaggerated Androstenedione, DHEA, and 17-hydroxyprogesterone in 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
3 beta-hydroxysteroid dehydrogenase deficiency	Increased: DHEA 17-hydroxypregnenolone Pregnenolone Decreased: Cortisol Aldosterone	Low testosterone levels	Salt-wasting adrenal crisis 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 appearance
Hyperprolactinemia	Normal levels of most of steroids	Increased prolactin	Infertility, galactorrhea