ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: J Clin Endocrinol Metab. 2020 Apr 1;105(4). PMID: 32170320In congenital hyperinsulinism (CHI) there is dysregulation of insulin secretion that leads to persistent hypoglycaemia. Mutations in the ABCC8/KCNJ11 genes which encode the pancreatic KATP channels proteins (SUR1/KIR6.2 respectively) are the most common causes of CHI. Mutations ...

To read the full abstract: Diabetes Care. 2019 Jun;42(6):1009–1017. PMID: 30967436Gestational diabetes mellitus (GDM) is increasing in incidence, affecting approximately 14% of pregnancies. Preventing GDM may significantly improve outcome for both mothers and offspring. The pathogenesis of GDM involves insulin resistance, pancreatic beta-cell failure and an increase in inflamm...

Lancet Diabetes Endocrinol. 2021;9:94–105. doi: 10.1016/S2213-8587(20)30399-5.This population based nested case-control study integrated registry data from Denmark, Norway, Sweden and Finland over 40 years to investigate the association of maternal, in-utero, and postnatal factors with thyroid cancer risk in offspring. Each patient with thyroid cancer (cases n=...

Brief summary: This observational study aimed at clarifying the contribution of pathogenic copy number variants (PCNVs) and candidate pathogenic variants in 86 children born small-for-gestational-age with short stature (SGA-SS).Approximately 10% of children born SGA do not show catch-up and remain permanently short (SGA-SS) (1,2). There is increasing evidence suggesting that genetic abnormalities underlie a high proportion of SGA-SS children. In this stu...

J Clin Endocrinol Metab. 2020;105(10):dgaa440. 10.1210/clinem/dgaa440 https://academic.oup.com/jcem/article/105/10/3134/5868100In brief: Based on a 20-year Danish registry, this study reports a marked increase in incidence of gynecomastia between 1998 to 2017, 5-fold among post-pubertal males age 16–20 years, and ...

Nat Commun. 2021 Jul 21;12(1):4446. doi: 10.1038/s41467-021-24748-8. PMID: 34290257Brief Summary: Jaundice is a major clinical sign of congenital hypothyroidism. LT4 treatment in hypothyroid neonates normalizes jaundice rapidly by inducing hepatocyte maturation. This mouse model study investigated the molecular mechanisms of thyroid hormone induced hepatocyte differentiation. A postnatal a...

Endocrinology 163, bqac005. (2022).Abstract: https://pubmed-ncbi-nlm-nih-gov/35041746/In Brief: C-type natriuretic peptide (CNP) is known to stimulate enchondral bone formation, but the distinct cellular pathways and cellular targets are unclear. This study used in vivo and in vitro biosensor systems to identify cGMP-induced activation of PKA as a major effect of CNP with growth promoting e...

Sci Adv. 2022; 8(16): eabn8485. PMID: 35442744https://pubmed.ncbi.nlm.nih.gov/35442744/Brief Summary: This histologic and transcriptomic study of human and primate adrenal tissue samples provides a molecular framework to understand the fetal development of the adrenal gland.The adrenal cortex is the major source of steroid hormones that drive a plethora of critical ph...

To read the full abstract: Nat Rev Endocrinol 2020 May 6. doi: 10.1038/s41574-020-0351-y. [Epub ahead of print]. PMID:32376986ATP-sensitive potassium (KATP) channels are composed of a pore-forming Kir6.2 potassium channel and a regulatory ABC transporter sulfonylurea receptor 1 (SUR1). This channel has a hetero-octameric structure compromising of four SUR1 subunits and four Ki...

To read the full abstract: J Bone Miner Res. 2019 Dec;34(12):2198–2204.In brief: In Osteogenesis imperfecta (OI), intravenous (IV) cyclical bisphosphonates are often discontinued after cessation of growth in adolescents. This study showed that, four years after discontinuation of treatment, none of the patients sustained new vertebral compression fractures, and the proportion ...