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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...

ey0021.14-2 | Basic Biology and Molecular Mechanisms | ESPEYB21

14.2. Human fertilization in vivo and in vitro requires the CatSper channel to initiate sperm hyperactivation

S Young , C Schiffer , A Wagner , J Patz , A Potapenko , L Herrmann , V Nordhoff , T Pock , C Krallmann , B Stallmeyer , A Ropke , M Kierzek , C Biagioni , T Wang , L Haalck , D Deuster , JN Hansen , D Wachten , B Risse , HM Behre , S Schlatt , S Kliesch , F Tuttelmann , C Brenker , T. Strunker

Short summary: This study examined ex vivo the function of the sperm-specific CatSper-channel in almost 2300 men undergoing investigation for infertility. In 9 infertile men with normal semen analysis but pathologic sperm motility, biallelic variants in genes forming the CatSper-channel were found, either in CATSPER2 or CATSPERE. These men and their partners failed to conceive naturally and medically assisted reproduction (MAR) was successful only via intracytoplasmic...

ESPE Yearbook of Paediatric Endocrinology

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

14.2. Human fertilization in vivo and in vitro requires the CatSper channel to initiate sperm hyperactivation

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