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Phenotypic Variation of SF1 Gene Mutations

  • Pascal Philibert
  • Françoise Paris
  • Françoise Audran
  • Nicolas Kalfa
  • Michel Polak
  • Elisabeth Thibaud
  • Graziella Pinto
  • Muriel Houang
  • Delphine Zenaty
  • Juliane Leger
  • Jean-Christophe Mas
  • Catherine Pienkowski
  • Silvia Einaudi
  • Durval Damiani
  • Svetlana Ten
  • Sunil Sinha
  • Francis Poulat
  • Charles SultanEmail author
Conference paper
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 707)

Abstract

Knockout of the steroidogenic factor 1 (Sf1) gene in 46,XY mice causes complete adrenal failure associated with gonadal dysgenesis, undervirilization, and persistence of mullerian ducts [1]. SF1 (NR5A1, SF1/Ad4BP/FTZF1) is a member of the nuclear receptor superfamily, and it plays a crucial role in the fetal development of the adrenal gland [2] and testes [3]. Sf1 is considered to be the master regulator of the reproductive system because it regulates the expression of a wide array of genes required for testis and adrenal development and hormone synthesis [4].

Keywords

Adrenal Insufficiency Premature Ovarian Failure Gonadal Dysgenesis Mullerian Duct Steroidogenic Factor 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Springer Science+Business Media, LLC 2011

Authors and Affiliations

  • Pascal Philibert
    • 1
    • 2
  • Françoise Paris
    • 1
    • 2
  • Françoise Audran
    • 1
  • Nicolas Kalfa
    • 1
  • Michel Polak
    • 3
  • Elisabeth Thibaud
    • 3
  • Graziella Pinto
    • 3
  • Muriel Houang
    • 10
  • Delphine Zenaty
    • 4
  • Juliane Leger
    • 4
  • Jean-Christophe Mas
    • 11
  • Catherine Pienkowski
    • 5
  • Silvia Einaudi
    • 6
  • Durval Damiani
    • 7
  • Svetlana Ten
    • 8
  • Sunil Sinha
    • 8
  • Francis Poulat
    • 2
  • Charles Sultan
    • 1
    • 2
    • 9
    Email author
  1. 1.Service d’HormonologieHôpital Lapeyronie, CHU MontpellierMontpellierFrance
  2. 2.Institut de Génétique Humaine, équipe CNRS, UPR 1142, Développement et Pathologie de la Gonade, Université MontpellierParisFrance
  3. 3.Service d’Endocrinologie et Gynécologie de l’EnfantHôpital Necker-Enfants Malades, AP-HPParisFrance
  4. 4.Service d’EndocrinologieHôpital Robert Debré, AP-HPParisFrance
  5. 5.Endocrinologie et Gynécologie PédiatriqueHôpital des Enfants, CHU de ToulouseToulouseFrance
  6. 6.Department of Paediatric EndocrinologyRegina Margherita HospitalTurinItaly
  7. 7.Hospital das Clínicas da Faculdade de Medicina da USP, Instituto da Criança, Endocrinologia PediátricaSao PauloBrazil
  8. 8.Division of Pediatric Endocrinology, Department of Pediatric EndocrinologyMaimonides Medical Center, State University of New York Downstate Children’s Hospital & Infant’s and Children Hospital of Brooklyn at MaimonidesBrooklynUSA
  9. 9.Service de Pédiatrie 1Hôpital A. de Villeneuve, Unité d’Endocrinologie-Gynécologie Pédiatriques, CHU MontpellierMontpellierFrance
  10. 10.Service d’Explorations FonctionnellesHôpital Armand TrousseauParis Cedex 12France
  11. 11.Service de PédiatrieHôpital de l’Archet, CHU de NiceNiceFrance

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