ESPE Yearbook of Paediatric Endocrinology

J Clin Endocrinol Metab. 2021 Mar 25;106(4):e1880–e1896. doi: 10.1210/clinem/dgaa660. PMID: 32936881.By studying placentas from normal weight mothers and obese (non-diabetic) mothers, the authors found that maternal obesity was associated with lower expression of nutrient transporters (such as for glucose and amino acids), surprisingly fewer immune cells, and compromised endocrine func...

Nat Rev Endocrinol. 2021 May;17(5):261–275 Abstract: https://pubmed.ncbi.nlm.nih.gov/33727709/In brief: This article systematically reviews the current advances in the understanding of mineral metabolism with focus on the regulation of mineralization in skeletal tissue and inhibition of mineralization in non-skeletal tissue. This is mandatory reading for any aspiring endocrino...

Diabetologia. 2020;63(4):780–787. doi: 10.1007/s00125-019-05077-4.This multicenter multinational study, in children with high genetic risk of T1D, identified an association between lower serum 25-hydroxyvitamin D (25OHD) concentrations and subsequent appearance of islet autoimmunity or T1D.The Trial to Reduce IDDM in the Genetically at Risk (TRIGR) ancillary ...

J Clin Endocrinol Metab. 2021, 106(10):e4142-e4154. doi: 10.1210/clinem/dgab352. PMID: 33999151.Brief Summary: The authors show that patients with hypopituitarism and FOXA2 gene defects also need screening for dysfunction of the pancreas.The Forkhead box A2 transcription factor (FOXA2) is important for normal development of the central nervous system, i...

Thyroid. 2022 May;32(5):496-504. doi: 10.1089/thy.2021.0685. Epub 2022 Mar 31. PMID: 35199588Brief Summary: This retrospective monocenter case-control study assessed levothyroxine requirements to achieve euthyroidism defined as two consecutive normal TSH measurements (0.3-4.7 mIU/L) separated by ≥ 6 weeks in adult patients with immune checkpoint inhibitor (ICI) associated permanent hypoth...

Pediatr Nephrol, 2022. 37(4): p. 859-869 PMID: 34542703Brief Summary: This prospective observational cohort study investigated growth rate after kidney transplant in children with chronic kidney disease (CKD) and growth failure, who received or did not receive rhGH treatment before transplantation. Patients pre-treated with rhGH showed better growth rates with taller height SDS at 7 years after transplantation. Positive effects of pre-transplant...

J Bone Miner Res. 2021 Aug;36(8):1594-1604.Abstract: https://pubmed-ncbi-nlm-nih-gov/33900645/In Brief: Enzyme replacement therapy with human ENPP1-Fc protein in Enpp1asj/asj mice, a murine model of ENPP1 deficiency, restored circulating levels of PPi, prevented clinical manifestations and decreased mortality.Commentary: ENPP1 deficiency causes gen...

Hum Mol Genet ddac107 (2022)Abstract: https://pubmed.ncbi.nlm.nih.gov/35567544/In Brief: Disproportionate tall stature represents a hallmark feature of Marfan syndrome, although specific mechanisms underlying linear bone overgrowth are unclear. This study used an ex vivo model system to identify dysregulation of TGFβ-binding proteins in the outer perichondrium as causative for the bon...

Pediatr Res. 2021; 92(1):265-274. doi: 10.1038/s41390-021-01739-5. PMID: 34556810https://pubmed.ncbi.nlm.nih.gov/34556810/Brief Summary: This study provides a detailed set of normative reference values for steroidogenesis during the first 6 months of life, which may facilitate rapid testing of infants for steroidogenic disorders.<p...

sophie.welsch@uclouvain.be Diabet Med. 2022; 39: e14720. PMID: 34652870.Brief Summary: Childhood cancer survivors are at increased risk of hyperglycaemia and diabetes due to cancer treatments as asparaginase, steroids and total body irradiation. This single center, retrospective study analyzed the prevalence of hyperglycaemia in 267 patients treated between 2004 and 2019 for hematologic malignancie...