ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica
Volume 15 | ESPEYB15 | Next issue

Yearbook of Paediatric Endocrinology 2018

6 Gender Dysphoria and Disorders of Sex Development

When should an extensive genetic investigation be performed?

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New function of old genes
Table of contents
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Psychological aspects

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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ey0015.6-16 | When should an extensive genetic investigation be performed? | ESPEYB15

6.16 Family history is under-estimated in children with isolated hypospadias: a French multicenter report of 88 families

M Ollivier , F Paris , P Philibert , S Garnier , A Coffy , N Fauconnet-Servant , M Haddad , JM Guys , R Reynaud , A Faure , T Merrot , K Wagner , J Bréaud , JS Valla , E Dobremez , L Gaspari , JP Daures , C Sultan , N Kalfa

To read the full abstract: J Urol. 2018 Apr 30. pii: S0022-5347(18)43073-X[Comments on 6.15 and 6.16] There is ongoing discussion regarding when extended genetic tests are indicated in DSD. There is also a discussion regarding what should be included in the definition of DSD. Are mild forms of hypospadias a type of DSD and where sho...
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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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