REMOVAL: Pelvic MRI in a 17-year-old XY girl with 5-alpha reductase deficiency and a homozygous Gly115Asp mutation in SRD5A2

J Sarfati; S Trabado; L Rocher; D Mallet; B Betari-Tabet; Y Morel; J Young

doi:10.1016/j.ando.2011.07.001

REMOVAL: Pelvic MRI in a 17-year-old XY girl with 5-alpha reductase deficiency and a homozygous Gly115Asp mutation in SRD5A2

Ann Endocrinol (Paris). 2011 Sep;72(4):310-313. doi: 10.1016/j.ando.2011.07.001. Epub 2011 Aug 10.

Authors

J Sarfati¹, S Trabado², L Rocher³, D Mallet⁴, B Betari-Tabet⁵, Y Morel⁴, J Young⁶

Affiliations

¹ UMR-S693 (ST, SBT, JY), faculté de médecine Paris-Sud, université Paris-Sud, 94276 Le-Kremlin-Bicêtre, France; Service d'endocrinologie et des maladies de la reproduction, hôpital de Bicêtre, Assistance publique-Hôpitaux de Paris, 94275 Le-Kremlin-Bicêtre, France; Laboratoire de génétique moléculaire, pharmacogénétique et hormonologie, 94275 Le-Kremlin-Bicêtre, France; Inserm U693, IFR93, 78, rue du Général-Leclerc, 94275 Le-Kremlin-Bicêtre, France.
² UMR-S693 (ST, SBT, JY), faculté de médecine Paris-Sud, université Paris-Sud, 94276 Le-Kremlin-Bicêtre, France; Laboratoire de génétique moléculaire, pharmacogénétique et hormonologie, 94275 Le-Kremlin-Bicêtre, France; Inserm U693, IFR93, 78, rue du Général-Leclerc, 94275 Le-Kremlin-Bicêtre, France.
³ Service de radiologie, CHU de Bicêtre, 94276 Le-Kremlin-Bicêtre, France.
⁴ Laboratoire d'endocrinologie moléculaire et maladies rares, centre de biologie et de pathologie Est, 69677 Bron, France.
⁵ Service d'endocrinologie et des maladies de la reproduction, hôpital de Bicêtre, Assistance publique-Hôpitaux de Paris, 94275 Le-Kremlin-Bicêtre, France.
⁶ UMR-S693 (ST, SBT, JY), faculté de médecine Paris-Sud, université Paris-Sud, 94276 Le-Kremlin-Bicêtre, France; Service d'endocrinologie et des maladies de la reproduction, hôpital de Bicêtre, Assistance publique-Hôpitaux de Paris, 94275 Le-Kremlin-Bicêtre, France; Inserm U693, IFR93, 78, rue du Général-Leclerc, 94275 Le-Kremlin-Bicêtre, France. Electronic address: jacques.young@bct.aphp.fr.

PMID: 21835392
DOI: 10.1016/j.ando.2011.07.001

Abstract

This article has been removed: please see Elsevier Policy on Article Withdrawal (http://www.elsevier.com/locate/withdrawalpolicy). This article has been removed at the request of the Editor-in-chief and the corresponding author for legal reasons regarding the patient consent.

Publication types

Case Reports

MeSH terms

3-Oxo-5-alpha-Steroid 4-Dehydrogenase / deficiency*
3-Oxo-5-alpha-Steroid 4-Dehydrogenase / genetics
Adolescent
Algeria
Consanguinity
Disorders of Sex Development / genetics*
Disorders of Sex Development / pathology
Genitalia, Male / growth & development
Genitalia, Male / pathology
Homozygote
Humans
Magnetic Resonance Imaging*
Male
Membrane Proteins / genetics*
Mutation*
Pelvis / pathology*
Puberty

Substances

Membrane Proteins
3-Oxo-5-alpha-Steroid 4-Dehydrogenase
SRD5A2 protein, human