ESPE Yearbook of Paediatric Endocrinology

Brief summary: An analysis of contraception data in 204 countries and territories between 1970 and 2019 shows that 162.9 million women had unmet needs for contraception (65.5% in sub-Saharan Africa and in south Asia). Demand was not satisfied for 64.8% of women aged 15–19 years, the highest proportion of any age group.This study included women aged 15–49 years and analysed contraceptive prevalence rate (CPR) and ‘demand satisfied’. We...

Genes Dev. 2021;35(5–6):367–378. doi: 10.1101/gad.345686.120.The longstanding concept of thyroid hormone (TH) action is summarized as the canonical switch model. This study adds important aspects of TH action to our current understanding, modifying this longstanding switch model to a “shift” model.According to the current concept, TH dependent gene...

Health Qual Life Outcomes 2020; 18: 258. doi: 10.1186/s12955-020-01515-9– The authors compared the quality of life (QOL) in 59 patients with CAH raised as females to 57 female patients with diabetes– Patients with CAH included 12 children, 29 adolescents and 18 adults– They found that the health-related QOL of female patients with CAH was similar to the QOL of patients wi...

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...

J Clin Endocrinol Metab. 2022 Feb 17;107(3):638-648. doi: 10.1210/clinem/dgab798. PMID: 34726229Brief Summary: This large monocenter retrospective cohort study (n=469) of patients diagnosed with congenital hypothyroidism (CH) identified predictors of transient vs. permanent CH. The authors developed a 4-item risk score (0-13 points) to be used from the age of 12 months on to predict t...

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...

NPJ Genom Med. 2021 Dec 20;6(1):107. doi: 10.1038/s41525-021-00274-w. PMID: 34930920https://www.nature.com/articles/s41525-021-00274-wBrief Summary: This cross-sectional study describes the genetic data of a cohort of patients with self-limited delayed puberty, finding a high prevalence of CCDC141 gene mutations. Usi...

Eur J Endocrinol. 2021 Oct 8;185(5):617-627. doi: 10.1530/EJE-21-0387. PMID: 34403359. https://eje.bioscientifica.com/view/journals/eje/185/5/EJE-21-0387.xmlBrief Summary: This study investigates the role of Whole Exome Sequencing in the differential diagnosis of delayed puberty, evaluating a geno...