ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Pediatr Diabetes. 2020 Mar;21(2):319–327. doi: 10.1111/pedi.12971. Epub 2020 Jan 3. PMID: 31885123Dissatisfaction with technologies, discontinuation of use and inappropriate adjustments of insulin pump settings pose important areas of concern in adolescents using diabetes technologies. This study searched for predictors of hybrid closed loop (HCL) discontinuation...

To read the full abstract: EClinicalMedicine. 2020 Apr 30;22:100338. doi: 10.1016/j.eclinm.2020.100338.The gravitostat hypothesis was only recently proposed based on studies in rodents showing that the addition of external weights to the body limits the rate of weight gain, independent of leptin signalling. In rodents, this was achieved by inserting weighted balloons into the abdomina...

To read the full abstract: Nat Commun. 2018;9:4455.Here, the largest genome-wide association study (GWAS) to date on thyroid function and dysfunction, in 72,167 individuals testing 8 million genetic variants, substantially increased the number of loci that are involved in the regulation of thyroid function. It provides functional evidence that two newly identified genes are involved in t...

To read the full abstract: J Clin Endocrinol Metab. 2018;103:3720–28.This nationwide prospective surveillance study aimed to estimate the performance of the current UK recommended TSH threshold (10 mU/L on day 5 after birth) for newborn blood spot screening compared to lower thresholds: 8 mU/L and 6 mU/L. Over a 12-month period, the authors included all patients with positive TSH ba...

Acta Diabetol. 2021 Mar;58(3):341–354. doi: 10.1007/s00592-020-01619-0. PMID: 33216207.The key findings of this multi-centre prospective cohort study were that neonates born to mothers treated for Gestational diabetes mellitus (GDM) (by lifestyle or medication, e.g. insulin or metformin) had high rates of macrosomia but similar adiposity to those born of mothers with normal glucose...

To read the full abstract: Pediatr Blood Cancer. 2020, Apr; 67: e28169. doi: https://www.ncbi.nlm.nih.gov/pubmed/32020769This thought-provoking paper looked at the malignancy risk in DSD from a different perspective. In this study, patients with malignant germ cell tumors (GCT) were identified in registries of pediatric GCT treatment from 1995 to 2005 and were then cross-referenced with ...

To read the full abstract: Diabetes Care. 2017;40:1002-1009Quality of life (QOL) measures have increasingly been considered as end-points of medical interventions. Both general QOL and health- and disease-specific quality of life can be assessed using well defined and validated questionnaires. The TEENs study is an international, cross-sectional study of youth with T1DM. 5,887 participants were follo...

Nat Rev Endocrinol. 2021 Feb;17(2):114–129. doi: 10.1038/s41574-020-00437-2. PMID: 33247226.We highly recommend this comprehensive review by Prodam et al. to everyone as a starter to this chapter. How many of you knew that hypopituitarism in humans was first described just over 100 hundred years ago? The authors of this excellent review divide the causes of hypopituitarism...

Medicine (Baltimore). 2020 Sep 25;99(39):e22389. doi: 10.1097/MD.0000000000022389. PMID: 32991460.In this relatively small study (6 placenta) the placentas from mothers of infants born large for gestational age (LGA) were compared to placentas of appropriate gestational age (AGA) infants for changes in genome wide DNA methylation. There were significant differences in the specific meth...

J Clin Endocrinol Metab. 2020;105(10):dgaa491. doi: 10.1210/clinem/dgaa510. PMID: 32816013This study describes the clinical characteristics of an extended family with novel NPR2 mutations. The family was an Ashkenazi Jewish family with no history of consanguinity and included two sisters with compound heterozygous NPR2 missense mutations causing acromesomelic dysplasia Mar...