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.[1]

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

References

  1. Congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency. Wikipedia (2016. https://en.wikipedia.org/wiki/Congenital_adrenal_hyperplasia_due_to_17_alpha-hydroxylase_deficiency Accessed on February 4, 2016