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Licensed Unlicensed Requires Authentication Published by De Gruyter September 8, 2011

Unexpected finding of an intact distal vagina in an infant with mixed gonadal dysgenesis

  • Susanne M. Cabrera EMAIL logo , Rudy Alvarez , Martin N. Kaefer , Erica A. Eugster and Todd D. Nebesio
From the journal Journal of Pediatric Endocrinology and Metabolism
https://doi.org/10.1515/JPEM.2011.336

Abstract

Mixed gonadal dysgenesis (MGD) is a form of sex chromosome disorder of sex development with large phenotypic variability. Patients with MGD typically have asymmetric and ambiguous genitalia with a combination of Müllerian and Wolffian duct derivatives. Prenatal androgen exposure results in variable degrees of phallic enlargement and a urogenital sinus. Here, we report an infant with ambiguous genitalia due to MGD. Despite marked evidence of prenatal androgen exposure, there was a completely intact distal vagina.

Keywords: disorder of sex development; mixed gonadal dysgenesis; urogenital sinus
Corresponding author: Department of Pediatrics, Riley Hospital for Children, Indiana University School of Medicine, 702 Barnhill Drive, Room 5960, Indianapolis, IN 46202, USA
Received: 2011-7-1
Accepted: 2011-7-31
Published Online: 2011-09-08
Published in Print: 2011-10-01

©2011 by Walter de Gruyter Berlin Boston

From the journal
Journal of Pediatric Endocrinology and Metabolism
Journal of Pediatric Endocrinology and Metabolism
Volume 24 Issue 9-10
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