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Ambiguous Genitalia during Neonatal Period: A 15-Year Experience at a Medical Center

並列摘要


This study is a 15-year retrospective review of the newborns with ambiguous genitalia at the Department of Pediatrics, Chung-Ho Memorial Hospital, Kaohsiung Medical University. From 1991 through 2005, 30 newborns aged less than 1 month old with the initial diagnosis of ambiguous genitalia were enrolled in this study. Among these patients, 13 patients (43%, n=13/30) had congenital adrenal hyperplasia (CAH), 15 patients (50%, n=15/30) had penoscrotal (14 penoscrotal type and one perineal type) hypospadia and six of them also had associated anomalies in other organs. The remaining two patients (7%, n=2/30) had other anomalies of the genital organ (scrotum bifida and urogenital sinus). There were two patients with abnormal chromosome study results in the hypospadia group. Surgical correction by clitoroplasty or vaginoplasty was performed for the female patients with CAH. Orchiopexy, repair of urethrocutaneous fistula and hypospadia were performed for the cases of hypospadia. In our study, the etiologies of ambiguous genitalia were CAH, severe hypospadia, and other anomalies of the genital organs and the proportions were 43%, 50%, and 7%, respectively. The percentage of chromosomal anomaly was found to be approximately 10%.

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