Disorders of Sex Development: New paradigm

ey0015.6-11 | Disorders of Sex Development: New paradigm | ESPEYB15

6.11 Elimination of the male reproductive tract in the female embryo is promoted by COUP-TFII in mice

F Zhao , HL Franco , KF Rodriguez , PR Brown , MJ Tsai , SY Tsai , HH Yao

To read the full abstract: Science. 2017 Aug 18;357(6352):717-720See comment on 6.13...

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ey0015.6-12 | Disorders of Sex Development: New paradigm | ESPEYB15

6.12 Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children

A Bashamboo , C Eozenou , A Jorgensen , J Bignon-Topalovic , JP Siffroi , C Hyon , A Tar , P Nagy , J Sólyom , Z Halász , A Paye-Jaouen , S Lambert , D Rodriguez-Buritica , R Bertalan , L Martinerie , E Rajpert-De Meyts , JC Achermann , K McElreavey

To read the full abstract: Am J Hum Genet. 2018 Mar 1;102(3):487-493See comment on 6.13...

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ey0015.6-13 | Disorders of Sex Development: New paradigm | ESPEYB15

6.13 A Novel Homozygous Missense Mutation in the FU-CRD2 Domain of the R-spondin1 Gene Associated with Familial 46,XX DSD

Y Naasse , A Bakhchane , H Charoute , F Jennane , J Bignon-Topalovic , A Malki , A Bashamboo , A Barakat , H Rouba , K McElreavey

To read the full abstract: Sex Dev. 2017;11(5-6):269-274[Comments on 6.11, 6.12 and 6.13] Evidence for factors necessary for female sexual development are presented in the above 3 publications. Studies of 46,XX DSD individuals show compiling evidence for factors necessary for female development and to counteract...

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ESPE Yearbook of Paediatric Endocrinology

Yearbook of Paediatric Endocrinology 2018

6 Gender Dysphoria and Disorders of Sex Development

6.11 Elimination of the male reproductive tract in the female embryo is promoted by COUP-TFII in mice

6.12 Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children

6.13 A Novel Homozygous Missense Mutation in the FU-CRD2 Domain of the R-spondin1 Gene Associated with Familial 46,XX DSD

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