ESPE Yearbook of Paediatric Endocrinology

Brief summary: This prospective observational cohort study determined leukocyte telomere length (LTL) in 76 patients with genetically confirmed CAH (83% classic CAH). LTL was shorter in patients with classic vs nonclassic CAH, in overtreated than in optimally treated patients, and patients receiving prednisolone compared with hydrocortisone.Telomeres are tandem repeats of a noncoding hexameric nucleotide sequence (5′-TTAGGG-3′) located at the...

Brief summary: The authors describe the various applications of the content of ESPE’s e-learning website that has been expanding greatly over the last 10 years. The program includes a Limited Resource Setting module that was developed in 2017 and has been translated into French, Spanish, Swahili, and Chinese.This interesting article retraces the successful development of ESPE’s e-learning program since 2012. Thanks to the tenacity and involveme...

To read the full abstract: Nature 2020;579:111–117.In brief: In large fracture calluses, skeletal progenitors activate the chondrogenesis program, whereas in smaller calluses, direct osteogenesis is the preferred path. Here, the authors show that lipid availability determines whether skeletal stem cells repair a fracture through endochondral bone formation or direct ossificati...

Brief summary: This paper describes consensus expert recommendations for the diagnosis and management of patients with Adrenoleukodystrophy.Adrenoleukodystrophy (ALD), a progressive metabolic disorder with variable and unpredictable clinical course, is caused by pathogenic variants in ABCD1 gene leading to deficient β-oxidation of saturated very-long-chain fatty acids (VLCFAs) (1, 2). Patients are asymptomatic at birth but ...

Arch Sex Behav. 2021 Apr;50(3):913–923. doi: 10.1007/s10508-021-01953-6. PMID: 33712989This paper describes a patient cohort study of 459 individuals with various DSD diagnoses, as part of the dsd-LIFE study. Patients were included at 14 different sites in 6 European countries.Genital surgery has been increasingly questioned in the past decade. Both the timin...

Mol Cell Endocrinol. 2022 Apr 15;546:111570. PMID: 35051551, doi: 10.1016/j.mce.2022.111570. Brief Summary: This report emphasizes the importance of screening for copy number variants (CNVs) using parallel genomic techniques for diagnosing unsolved cases of complete androgen insensitivity syndrome (CAIS) as well as other DSDs, where traditional sequencing techniques fail to detect a genetic...

moab@chop.edu Pediatr Blood Cancer. 2022; 69: e29674. PMID: 35338690.Brief Summary: Childhood cancer survivors (CCS), particularly those exposed to local irradiation, are at increased risk for thyroid disease and thyroid surgery. This retrospective, monocentric study compared rates of surgical complications among 42 CCS undergoing thyroid surgery compared to 596 non-CCS controls (sporadic/familial thyroid cance...

To read the full abstract: Pediatr Diabetes. 2020 Mar;21(2):377–383. doi: 10.1111/pedi.12956. PMID: 31808586Across all age groups, management of type 1 diabetes (T1DM) places substantial workload, responsibility and emotional burden, such as worries and stress, on families. This study explored parent perceptions of the burdens of caring for very young children with T1DM. Semi-structured qu...

Eur Thyroid J. 2018;7:225-37. doi: 10.1159/000491388. Epub 2018 Jul 19https://www.ncbi.nlm.nih.gov/pubmed/30374425Diagnosis and treatment of central hypothyroidism are much more complex than for primary hypothyroidism. For the first time, guidelines summarize all the available evidence to provide a thorough state of...

To read the full abstract: Nature 2018;560:489–493.This paper reports competitive gut colonization experiments in mice. Compared to adult mice, neonatal mice showed much higher expression of the flagellin receptor Tlr5 in their intestinal epithelial cells, and exposure to this protein during the first 2 weeks of life, before weaning, was crucial in determining lifelong...