Unexpected finding of an intact distal vagina in an infant with mixed gonadal dysgenesis. J Pediatr Endocrinol Metab 2011;24(9-10):831-3
Date
12/08/2011Pubmed ID
22145487Pubmed Central ID
PMC4094021DOI
10.1515/jpem.2011.336Scopus ID
2-s2.0-80054080302 (requires institutional sign-in at Scopus site)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.
Author List
Cabrera SM, Alvarez R, Kaefer MN, Eugster EA, Nebesio TDAuthor
Susanne M. Cabrera MD Associate Professor in the Pediatrics department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
Disorders of Sex DevelopmentFemale
Genitalia, Male
Gonadal Dysgenesis, Mixed
Humans
Infant
Male
Urogenital System
Vagina
Virilism
