ESPE Yearbook of Paediatric Endocrinology

Brief Summary: This open-label, randomised phase 3 trial investigated the efficacy and safety of subcutaneous infusions of Dasiglucagon1, a glucagon analogue, as an add-on to standard of care (SoC) treatment in infants and children with congenital hyperinsulinism (CHI).Patients had documented CHI aged 0.6 to 10.9y, who had ≥3 episodes of hypoglycemia/week, defined as self-measured plasma glucose (SMPG) <3.9 mmol/L. Part 1 (weeks 1-4)...

To read the full abstract: J Clin Endocrinol Metab. 2019; 104(8): 3172–3180. PMID: 30865229.Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency was among the first genetic disorders included in newborn screening (NBS) programs worldwide, based on 17-hydroxyprogesterone (17OHP) concentrations determined in dried blood spots (1). However, the success of NBS for...

J Clin Endocrinol Metab. 2020 Nov 1;105(11):dgaa563. doi: 10.1210/clinem/dgaa563. PMID: 32818257.This manuscript describes an unusual case of a baby born with a homozygous Nkx2.2 mutation who developed severe neonatal diabetes mellitus and then on follow up went onto develop severe obesity characterized by marked hyperphagia.Nkx2.2 is an important transcription factor...

N Engl J Med. 2018 Sep 13;379(11):1042–1049.doi: 10.1056/NEJMoa1800024. PMID: 30207912This case report describes two sisters with 46,XX karyotype and hypergonadotropic hypogonadism – i.e. ovarian dysgenesis. They had normal general development and normal cognition. With estrogen replacement they developed normal sex characteristics and reached their target he...