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

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

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)831-833
Number of pages3
JournalJournal of Pediatric Endocrinology and Metabolism
Volume24
Issue number9-10
DOIs
StatePublished - Oct 2011

Fingerprint

Mixed Gonadal Dysgenesis
Vagina
Disorders of Sex Development
Sex Chromosome Disorders of Sex Development
Androgens
Wolffian Ducts

Keywords

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

ASJC Scopus subject areas

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

Cite this

Unexpected finding of an intact distal vagina in an infant with mixed gonadal dysgenesis. / Cabrera, Susanne M.; Alvarez, Rudy; Kaefer, Martin; Eugster, Erica; Nebesio, Todd.

In: Journal of Pediatric Endocrinology and Metabolism, Vol. 24, No. 9-10, 10.2011, p. 831-833.

Research output: Contribution to journalArticle

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