Case of External Genitalia Abnormalities in A Patient with Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency with 46, XX Karyotype and Male Gender Identification

Serebryakova Inna P¹*, Galakhova Ravilya K¹, Vorokhobina Natalia V², Kuznetsova Alla V¹, Bashnina Elena B², Baranov Vitalii L², Maksiutova Indira R³ and Guseva Polina S⁴

Received: August 19, 2019;   Published: November 15, 2019

DOI: 10.32474/JUNS.2019.02.000137

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Abstract

The article describes a clinical case of a patient, phenotypically male, with male gender identity and male type of external genitalia, but two-sided cryptorchidism, who first time seek medical attention due to urological complaints in adulthood. During the diagnostics, it was found that he has internal female reproductive organs, hypospadia of the urethra and karyotype 46, XX. Hormonal and molecular genetic analysis allowed to diagnose the virile form of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Late diagnostics and therapy initiation of 21-hydroxylase deficiency led to the formation of adrenal tumors, stunting, long-existing urological problems.

Keywords: Сongenital adrenal hyperplasia; 21-hydroxylase; external genitalia virilization; hypospadias of the urethra; cryptorchidism

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