Inguinal Hernia in a Phenotypic Female Infant May Reveal a 46XY Sex Reversal, Supported by the Identification of a Novel SF1 Gene Mutation

  • Sunil K. Sinha
  • Pascal Philibert
  • Charles Sultan
  • Svetlana TenEmail author
Conference paper
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 707)


Testicular development from bipotential gonad and its descent to the scrotal sac are thought to be dependent on multiple genetic, hormonal, and environmental factors. Presumed inguinal hernia in a phenotypic female is a common presenting sign of 46XY disorder of sexual differentiation (DSD) in infancy and childhood. Although androgen insensitivity syndrome (AIS) is the most frequently identified cause, evaluation of other rare genetic disruptions like SF1 should be considered based on clinical and biological phenotypes.


Inguinal Hernia Inguinal Hernia Repair Testicular Development Androgen Insensitivity Syndrome ACTH Stimulation Test 
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Copyright information

© Springer Science+Business Media, LLC 2011

Authors and Affiliations

  • Sunil K. Sinha
    • 1
  • Pascal Philibert
    • 2
  • Charles Sultan
    • 2
    • 3
    • 4
  • Svetlana Ten
    • 5
    Email author
  1. 1.Division of Pediatric Endocrinology, Department of Paediatric EndocrinologyMaimonides Medical Centre, State University of New York Downstate Children’s Hospital & Infant’s and Children Hospital of Brooklyn at MaimonidesBrooklynUSA
  2. 2.Service d’HormonologieHôpital Lapeyronie, CHU MontpellierMontpellierFrance
  3. 3.Institut de Génétique Humaine, équipe CNRS, UPR 1142, Développement et Pathologie de la Gonade, Université MontpellierParisFrance
  4. 4.Service de Pédiatrie 1, Hôpital A. de Villeneuve, Unité d’Endocrinologie-Gynécologie Pédiatriques, CHU MontpellierMontpellierFrance
  5. 5.Department of Paediatric EndocrinologyMaimonides Medical CentreBrooklynUSA

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