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ey0016.2-1 | Neonatal Hypoglycaemia | ESPEYB16

2.1. Congenital hyperinsulinism in infants with turner syndrome: possible association with monosomy X and KDM6A haploinsufficiency

CE Gibson , KE Boodhansingh , C Li , L Conlin , P Chen , SA Becker , T Bhatti , V Bamba , NS Adzick , DD De Leon , A Ganguly , CA Stanley

To read the full abstract: Horm Res Paediatr: 2018;89(6):413422.This study examined the clinical and molecular aspects of girls with Turner syndrome and hyperinsulinaemic hypoglycemia (HH). Records of girls with hyperinsulinism and Turner syndrome were reviewed.The findings expand on previous observations suggesting a link between Turner syndrome and hyperins...

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ey0016.2-3 | Neonatal Hypoglycaemia | ESPEYB16

2.3. Hyperinsulinemic hypoglycemia in seven patients with de novo NSD1 mutations

K Grand , C Gonzalez-Gandolfi , AM Ackermann , D Aljeaid , E Bedoukian , LM Bird , DD De Leon , J Diaz , RJ Hopkin , SP Kadakia , B Keena , K Klein , I Krantz , E Leon , K Lord , C McDougall , L Medne , CM Skraban , CA Stanley , J Tarpinian , E Zackai , MA Deardorff , JM Kalish

To read the full abstract: Am J Med Genet A. 2019 Apr;179(4):542551.This study describes 7 individuals with hyperinsulinemic hypoglycemia caused by NSD1 gene mutations with 3 having persistent hyperinsulinemic hypoglycemia.The underlying mechanisms that lead to hyperinsulinaemic hypoglycemia in Sotos syndrome are not known. Since most of the previous...

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ESPE Yearbook of Paediatric Endocrinology

2.1. Congenital hyperinsulinism in infants with turner syndrome: possible association with monosomy X and KDM6A haploinsufficiency

2.3. Hyperinsulinemic hypoglycemia in seven patients with de novo NSD1 mutations

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