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 primary amenorrhea. These diseases include androgen insensitivity syndrome,

Category	Disease name	Cause	Differentiating
Congenital adrenal hyperplasia	3-beta-hydroxysteroid dehydrogenase type 2 deficiency	HSD3B2 gene mutation
	17-alpha-hydroxylase deficiency	CYP17A1 gene mutation
Disorders with abnormal testicular activity	Gonadal dysgenesis	Undeveloped gonads	Female external genitalia Intact Mullerian ducts Streak gonads karyotyping
	Testicular regression syndrome	Loss of testicular function and tissue early in development	Female phenotype with atrophic Müllerian ducts.
	Vanishing testes syndrome	Loss of testicular function late in fetal life	Normal male genitalia Absent Müllerian ducts Anorchia.
Disorders with abnormal androgen synthesis or response	LH receptor defects	LH receptor gene mutation on chromosome 2p21	Female external genitalia Lack a uterus and fallopian tubes Epididymis and vas deferens may be present Laboratory evaluation: Low testosterone Elevated concentration of LH Unresponsiveness to hCG Normal levels of testosterone precursors (produced in the adrenal glands).
	5-alpha-reductase type 2 deficiency	Autosomal recessive	Bilateral testes and normal testosterone formation Impaired external virilization during embryogenesis Defective conversion of testosterone to DHT. Testosterone:DHT ratio is >10:1
	Androgen insensitivity
	AMH receptor defect