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1.9. IGSF1 mutations are the most frequent genetic aetiology of thyrotropin deficiency

R Fourneaux , R Reynaud , G Mougel , S Castets , P Bretones , B Dauriat , T Edouard , G Raverot , A Barlier , T Brue , F Castinetti , A Saveanu

Brief summary: Congenital central hypothyroidism is caused by thyrotropin deficiency, either isolated or in combination with other pituitary deficiencies. So far, mutations in five genes have been identified in patients with isolated thyrotropin deficiency: thyroid stimulating hormone subunit β (TSHβ), thyrotropin-releasing hormone receptor (TRHR), immunoglobulin superfamily member 1 (IGSF1), transducin-like protein 1 (TBLX1), and ...

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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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ey0020.1-8 | Genetics | ESPEYB20

1.8. The severity of congenital hypothyroidism with gland-in-situ predicts molecular yield by targeted NGS

L Levaillant , N Bouhours-Nouet , F Illouz , JA Jager , A Bachelot , P Barat , S Baron , C Bensignor , AB De La Perriere , YB Djellas , M Caillot , E Caldagues , MN Campas , M Caquard , A Cartault , J Cheignon , A Decrequy , B Delemer , K Dieckmann , A Donzeau , E Doye , M Fradin , M Gaudilliere , F Gatelais , M Gorce , I Hazart , N Houcinat , L Houdon , M Ister-Salome , L Jozwiak , P Jeannoel , F Labarthe , D Lacombe , AS Lambert , C Lefevre , B Leheup , C Leroy , B Maisonneuve , I Marchand , E Marquant , M Muszlak , L Pantalone , S Pochelu , C Quelin , C Radet , P Renoult-Pierre , R Reynaud , S Rouleau , C Teinturier , J Thevenon , C Turlotte , A Valle , M Vierge , C Villanueva , A Ziegler , X Dieu , N Bouzamondo , P Rodien , D Prunier-Mirebeau , R Coutant

Brief summary: Over the recent years several publications reported on next generation sequencing (NGS) in cohorts of patients with congenital hypothyroidism (1). Based on these data, diagnostic yield was higher in patients with gland-in-situ, than with thyroid dysgenesis. Further studies performed NGS only in cohorts of patients with gland-in-situ, excluding thyroid dysgenesis forms such as athyreosis, ectopy, or hypoplasia (2). The publication of Levaillant ...

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ESPE Yearbook of Paediatric Endocrinology

1.9. IGSF1 mutations are the most frequent genetic aetiology of thyrotropin deficiency

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

1.8. The severity of congenital hypothyroidism with gland-in-situ predicts molecular yield by targeted NGS

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