title: Inguinal hernia in a phenotypic female infant may reveal a 46XY sex reversal, supported by the identification of a novel SF1 gene mutation.
authors.affiliation: Division of Pediatric Endocrinology, Department of Paediatric Endocrinology, Maimonides Medical Centre, State University of New York Downstate Children's Hospital & Infant's and Children Hospital of Brooklyn at Maimonides, Brooklyn, NY, USA. sanny45@hotmail.com
authors.forename: Sunil K
authors.initials: SK
authors.lastname: Sinha
authors.forename: Pascal
authors.initials: P
authors.lastname: Philibert
authors.forename: Charles
authors.initials: C
authors.lastname: Sultan
authors.forename: Svetlana
authors.initials: S
authors.lastname: Ten
mesh_terms: D002675:Child, Preschool; D058490:Disorder of Sex Development, 46,XY / Q000235:genetics*; D005260:Female; D006552:Hernia, Inguinal / Q000235:genetics*; D006801:Humans; D009154:Mutation; D010641:Phenotype; D054339:Steroidogenic Factor 1 / Q000235:genetics*
chemical_list: C515057:NR5A1 protein, human; D054339:Steroidogenic Factor 1