J Korean Assoc Pediatr Surg.  2007 Dec;13(2):222-227.

Mixed Gonadal Dysgenesis Mimicking True Hermaphroditism

Affiliations
  • 1The Department of Urology, Collage of Medicine, Daegu Catholic University, Daegu, Korea. jspark@cu.ac.kr

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.

Keyword

Mixed gonadal dysgenesis; True hermaphroditism; Gonad
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