17 alpha-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

Congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency must be differentiated from other diseases that cause similar clinical features, such as 5-alpha-reductase deficiency and hypogonadism.

Differentiating 17 alpha-hydroxylase deficiency from other Diseases

17 alpha-hydroxylase deficiency must be differentiated from diseases with undervirilization in males. These diseases include androgen insensitivity syndrome,

Category	Disease name	.	.
Congenital adrenal hyperplasia	3-beta-hydroxysteroid dehydrogenase type 2 deficiency
	17-alpha-hydroxylase deficiency
Disorders with abnormal testicular activity	Gonadal dysgenesis			.
	Testicular regression syndrome
	Vanishing testes syndrome
	Persistent Müllerian duct syndrome
Disorders with abnormal androgen synthesis or response	LH receptor defects
	5-alpha-reductase type 2 deficiency
	Androgen insensitivity
	AMH receptor defect