ESPE Yearbook of Paediatric Endocrinology

J Clin Endocrinol Metab. 2020 Jul 1;105(7):dgaa247. 10.1210/clinem/dgaa247. https://pubmed.ncbi.nlm.nih.gov/32407531/Based on a structured summary of a case series of 43 well-defined patients, these authors propose for regular screening and preventive examinations in ROHHAD patients and list the therapeutic options. Although these recommendat...

Lancet Glob Health 2020; 8: e1546–54. doi: 10.1016/S2214-109X(20)30388-0– Hypoglycemia is associated with increased mortality in severely sick children. WHO recommends treatment of hypoglycemia for a blood glucose < 2.5 mmol/l– The authors hypothesized that increasing the threshold for the treatment of hypoglycemia from 2.5 to 5 mmol/l would reduce all cause in-hos...

JAMA Netw Open. 2021;4(3):e214117. https://bit.ly/3zopFZ4This prospective observational cohort study (n=4638) measured vitamin D level in the year before undergoing COVID-19 testing. The risk of a positive COVID-19 test in Black, but not White, individuals was 2.64-fold higher if vitamin D level was 30–40 ng/ml compared to > 40 ng/ml.Vitamin D may improve immune functi...

Hormone Research in Paediatrics 2020;93:548–557https://bit.ly/2ToJvmvThe authors studied 2,657 German children aged 5-18 years to look for social patterning in the age at puberty timing and circulating gonadotrophin levels. Lower socio-economic status (SES) was associated with earlier thelarche, longer duration of puberty, and overweight in girls, but not age at menarche. In boys, lower SES showed a tren...

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Hum Genet. 2021 Nov;140(11):1553-1562. doi: 10.1007/s00439-021-02259-2.Brief Summary: This paper describes 5 related Karelian Bear Dogs (KBDs) with a canine hypopituitarism phenotype. Genome-wide association analysis (GWAS) and next-generation sequencing revealed a homozygous candidate gene defect in POU1F1. The study thus presents a novel animal model for human hypopituitarism.</...

Eur Thyroid J. 2022 Jan 1;11(1):e210073. doi: 10.1530/ETJ-21-0073. PMID: 34981748The 2022 European Thyroid Association Guidelines for the management of Graves’ disease in the pediatric age group is an important document summarizing all aspects of the disease, ranging from diagnosis, medical treatment with its advantages and side effects, definitive treatment by thyroidectomy or radioiodine a...

J Bone Miner Res 36, 1387–1402. (2021)Abstract: https://pubmed-ncbi-nlm-nih-gov/33724538/In brief: Premature growth plate closure under anti-hedgehog treatment is caused by impaired retinoic acid metabolism in growth plate progenitor cells. In this mouse model, administration of retinoic acid receptor blockers rescued the phenotype and normalized growth plate maturation.<p class="a...

iScience. 2021 Oct 11;24(11):103257. PMID: 34761181, doi: 10.1016/j.isci.2021.103257.Brief Summary: The authors explored the relationship between sex hormones and lipids in pre-pubertal children, young post-pubertal cisgender men and women, and transgender adolescents on gender affirming hormone (GAH) tre...

christine.martinez-vinson@aphp.fr J Pediatr Gastroenterol Nutr. 2021; 73: 231-235. PMID: 33908740.Brief Summary: This retrospective study evaluated longitudinal changes in bone mineral density (BMD) in children and adolescents with Crohn disease (CD), and the risk factors for low BMD. Low BMD (defined as BMD Z score ≤ -2.0) was present in 18.7% of patients at diagnosis and in 16% at ...