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3.10. Mutations in IRS4 are associated with central hypothyroidism

CA Heinen , EM de Vries , M Alders , H Bikker , N Zwaveling-Soonawala , Akker ELT van den , B Bakker , G Hoorweg-Nijman , F Roelfsema , RC Hennekam , A Boelen , Trotsenburg ASP van , E Fliers

To read the full abstract: J Med Genet. 2018;55:693700.This genetic study identified, by whole exome sequencing, mutations in the insulin receptor substrate 4 gene (IRS4) in 5 families with isolated central congenital hypothyroidism. Thus, the authors add a fifth genetic cause of isolated congenital hypothyroidism to the previously known genes: TSHB, TRHR, IGSF1, ...

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ey0015.4-11 | New perspectives | ESPEYB15

4.11 Genetic analyses in small-for-gestational-age newborns

SE Stalman , N Solanky , M Ishida , C Alemán-Charlet , S Abu-Amero , M Alders , L Alvizi , W Baird , C Demetriou , P Henneman , C James , LC Knegt , LJ Leon , MMAM Mannens , AN Mul , NA Nibbering , E Peskett , FI Rezwan , C Ris-Stalpers , JAM van der Post , GA Kamp , FB Plötz , JM Wit , P Stanier , GE Moore , RC Hennekam

To read the full abstract: J Clin Endocrinol Metab 2018; 103:917-925SGA is often defined as a birth weight and/or length < −2 SDS for gestational age and gender [43]. A frequent cause of SGA is fetal growth restriction (FGR), often associated with perinatal mortality and morbidity and also implicated in a higher risk of cardio-metabolic disease in adulthood. ...

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ESPE Yearbook of Paediatric Endocrinology

3.10. Mutations in IRS4 are associated with central hypothyroidism

4.11 Genetic analyses in small-for-gestational-age newborns

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