A case of female epispadias
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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
ObjectiveTo present a case of unrecognized female epispadias.DesignCase report.SettingUniversity-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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