A case of combined 21-hydroxylase deficiency and CHARGE syndrome featuring micropenis and cryptorchidism.

Volume: 7, Issue: 6
Published: Jun 1, 2019
Abstract
Background null 21-hydroxylase deficiency (21-OHD) is caused due to CYP21A2 gene variant. In males, the excess androgens produce varying degrees of penile enlargement and small testes. CHARGE syndrome (CS) has a broad spectrum of symptoms. In males, genital features such as micropenis and cryptorchidism are found in 48% of CS. There are no reports of patients with combined 21-OHD and CS; therefore, it is unknown whether the external genitalia...
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Paper Details
Title
A case of combined 21-hydroxylase deficiency and CHARGE syndrome featuring micropenis and cryptorchidism.
Published Date
Jun 1, 2019
Volume
7
Issue
6
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