A case of female epispadias.

OBJECTIVE

To present a case of unrecognized female epispadias.

DESIGN

Case report.

SETTING

University-based reproductive endocrinology and fertility clinic.

PATIENT(S): A 16-year-old girl with epispadias, history of mild urinary incontinence, auditory neuropathy, and functional hyperandrogenism.

INTERVENTION(S): None.

MAIN OUTCOME MEASURE(S): Peripheral blood array-based comparative genomic hybridization.

RESULT(S): The patient was referred for evaluation of excessive weight gain, secondary amenorrhea, and abnormal external genitalia. Examination under anesthesia revealed bilateral labia minora hypertrophy, bifid clitoris, and a patulous urethra, consistent with female epispadias. Hormonal evaluation showed functional hyperandrogenism, and peripheral blood array-based comparative genomic hybridization showed no chromosomal deletions or duplications.

CONCLUSION(S): Female epispadias is a rare abnormality, not commonly recognized by most practitioners. The diagnosis is supported by a history of urinary incontinence and physical findings of bifid clitoris and patulous urethra. The condition can have serious physical and psychological consequences leading to a gross disruption of social function.