A case of female epispadias

Julierut Tantibhedhyangkul, Susannah D. Copland, Andrea M. Haqq, Thomas M Price
Fertility and sterility · 2008 · vol. 90(5) , pp. 2017.e1–2017.e3 · doi:10.1016/j.fertnstert.2007.12.055 · PMID:18314106 · PMC2588430 · W2074833634
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This case report describes a 16-year-old girl with unrecognized female epispadias, presenting with urinary incontinence and specific anatomical findings, along with hyperandrogenism and normal chromosomal analysis.

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Abstract

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.

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MeSH descriptors

Epispadias Urethra Vulva Adolescent Amenorrhea Amenorrhea Epispadias Epispadias Epispadias Female Humans Hyperandrogenism Hyperandrogenism Hypertrophy Urethra Urethra Urinary Incontinence Urinary Incontinence Vulva Vulva

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