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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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ey0019.6-6 | Basic and Genetic Research of DSD | ESPEYB19

6.6. Expanding DSD phenotypes associated with variants in the DEAH-box RNA helicase DHX37

H Zidoune , L Martinerie , DS Tan , M Askari , D Rezgoune , A Ladjouze , A Boukri , Y Benelmadani , K Sifi , N Abadi , D Satta , M Rastari , M Seresht-Ahmadi , J Bignon-Topalovic , I Mazen , J Leger , D Simon , R Brauner , M Totonchi , R Jauch , A Bashamboo , K McElreavey

Sex Dev. 2021;15(4):244-252. PMID: 34293745, doi: 10.1159/000515924.Brief Summary: This genetic study provides data of a large cohort of 140 patients with DSD who were screened for DHX37 variants.DHX37 emerges as a frequent cause of nonsyndromic 46,XY gonadal dysgenesis, and 46,XY testicular regression syndrome. Since the first description of the gene (1), <...

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ey0017.6-8 | Differences/Disorders of Sex Development: Genetics | ESPEYB17

6.8. Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome

K McElreavey , A Jorgensen , C Eozenou , T Merel , J Bignon-Topalovic , DS Tan , D Houzelstein , F Buonocore , N Warr , RGG Kay , M Peycelon , JP Siffroi , I Mazen , JC Achermann , Y Shcherbak , J Leger , A Sallai , JC Carel , L Martinerie , R Le Ru , GS Conway , B Mignot , L Van Maldergem , R Bertalan , E Globa , R Brauner , R Jauch , S Nef , A Greenfield , A Bashamboo

To read the full abstract: Genet Med. 2020, Jan; 22: 150-9. doi: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6944638/pdf/41436_2019_Article_606.pdfMassive parallel sequencing of 145 46,XY DSD patients revealed 13 individuals with heterozygous missense pathogenic variants in the RNA helicase DHX37, explaining 11% of cases of 46,XY gonadal d...

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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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ey0015.6-15 | When should an extensive genetic investigation be performed? | ESPEYB15

6.15 Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies

MF Portnoi , MC Dumargne , S Rojo , SF Witchel , AJ Duncan , C Eozenou , J Bignon-Topalovic , SA Yatsenko , A Rajkovic , M Reyes-Mugica , K Almstrup , L Fusee , Y Srivastava , S Chantot-Bastaraud , C Hyon , C Louis-Sylvestre , P Validire , C de Malleray Pichard , C Ravel , S Christin-Maitre , R Brauner , R Rossetti , L Persani , EH Charreau , L Dain , VA Chiauzzi , I Mazen , H Rouba , C Schluth-Bolard , S MacGowan , WHI McLean , E Patin , E Rajpert-De Meyts , R Jauch , JC Achermann , JP Siffroi , K McElreavey , A Bashamboo

To read the full abstract: Hum Mol Genet. 2018 Apr 1;27(7):1228-1240See comment on 6.16...

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ESPE Yearbook of Paediatric Endocrinology

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

6.6. Expanding DSD phenotypes associated with variants in the DEAH-box RNA helicase DHX37

6.8. Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome

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

6.15 Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies

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