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ISSN: 2641-1687

Journal of Urology & Nephrology Studies

Research Article(ISSN: 2641-1687)

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

Volume 2 - Issue 3

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

  • Author Information Open or Close
    • 1Endocrinology Department, North West State Medical University, Russia
    • 2Chief of Endocrinology Department, North West State Medical University, Russia
    • 3Endocrinologist of Polyclinic Department, Bashkiria’s Republican Clinical Hospital, Russia
    • 4Chief of Endocrinology Department, Bashkiria’s Republican Clinical Hospital, Russia

    *Corresponding author: Serebryakova IP, PhD, Associate of Professor, Endocrinology Department, North West state medical university named after I.I. Mechnikov, Russia

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

DOI: 10.32474/JUNS.2019.02.000137

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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

Abstract| Introduction| Discussion| References|