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

Susanne M. Cabrera, Rudy Alvarez, Martin N. Kaefer, Erica A. Eugster, Todd D. Nebesio

Research output: Contribution to journalArticle


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.

Original languageEnglish (US)
Pages (from-to)831-833
Number of pages3
JournalJournal of Pediatric Endocrinology and Metabolism
Issue number9-10
StatePublished - Oct 1 2011


  • Disorder of sex development
  • Mixed gonadal dysgenesis
  • Urogenital sinus

ASJC Scopus subject areas

  • Endocrinology
  • Endocrinology, Diabetes and Metabolism
  • Pediatrics, Perinatology, and Child Health

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