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15.13. Health-related quality of life in Turner syndrome and the influence of growth hormone therapy: a 20-year follow-up

E Krantz , K Landin-Wilhelmsen , P Trimpou , I Bryman , U Wide

To read the full abstract: The Journal of Clinical Endocrinology & Metabolism 2019;104:50735083.On a similar theme to paper 15.12, these authors studied women with Turner syndrome (TS; n =200), age range 1678 years, between 1995 and 2018 with a focus on the impact of growth hormone (GH) therapy on health-related quality of life (HR-QoL). Despite a mean 5.7 cm increase in expected height, GH therapy was not associated wit...

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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

15.13. Health-related quality of life in Turner syndrome and the influence of growth hormone therapy: a 20-year follow-up

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

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