Advances in pediatric surgery

Korean Association of Pediatric Surgeons (대한소아외과학회)
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Mixed Gonadal Dysgenesis Mimicking True Hermaphroditism

참남여중간몸증으로 오인된 혼합생식샘발달장애

  • Choi, Jae-Duck (The Department of Urology, Collage of Medicine, Daegu Catholic University) ;
  • Jeon, Jong-Ho (The Department of Urology, Collage of Medicine, Daegu Catholic University) ;
  • Park, Jae-Shin (The Department of Urology, Collage of Medicine, Daegu Catholic University)
  • 최재덕 (대구가톨릭대학교 의과대학 비뇨기과학교실) ;
  • 전종호 (대구가톨릭대학교 의과대학 비뇨기과학교실) ;
  • 박재신 (대구가톨릭대학교 의과대학 비뇨기과학교실)
  • Received : 2007.08.21
  • Accepted : 2007.10.12
  • Published : 2007.12.31
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Abstract

A differential diagnosis between the true hermaphroditism (TH) and mixed gonadal dysgenesis (MGD) has important clinical implications for gender assignment and the decision for early gonadectomy; however, variable clinical and histological features frequently lead to the confusion of TH with MGD. A 17-month-old boy was presented with proximal hypospadias with chordee and right non-palpable testis in his scrotum. He also had right auricular anomaly including a separated tragus with skin tag. Left testis was well palpable in his left scrotum. Diagnostic right inguinal exploration showed Mullerian structures such as a gonad like an ovary and a fallopian tube with a uterus, which were removed. Repair of hypospadias and right auricular anomaly was also done. Following ultrasonography (USG) showed a normal looking testis in left scrotum. His chromosome was 45, XO/46, XY. We report a difficult case of mixed gonadal dysgenesis mimicking true hermaphroditism which combines ipsilateral congenital auricular anomaly.

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