ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: J Med Genet. 2018;55:693–700.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, ...

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. ...

To read the full abstract: Nat Rev Endocrinol. 2018 Apr;14(4):229-249Beckwith-Wiedemann syndrome (BWS) is a growth disorder characterized by neonatal hypoglycemia, macrosomia, macroglossia, hemihyperplasia, omphalocele, embryonal tumors (e.g., Wilms tumor, hepatoblastoma, neuroblastoma, and rhabdomyosarcoma), visceromegaly, adrenocortical cytomegaly, renal abnormalities (e.g., medullary dysplas...