ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: J Orthop Res 2018;36:138-148Dogs are growth biologists’ best friends – due to the broad intra-species variance in body size, canine breeds offer a unique opportunity to study genetic differences mainly affecting linear growth. In their previous publication, the authors found drastic differences between miniature and large dog breeds in known key regulators of th...

To read the full abstract: Cell Metabolism 2018;27:854-868. e8People gain weight due to treatment with glucocorticoid (GC) drugs, but also in chronic stress and disrupted circadian rhythms. We now learn that fat-cell maturation increases if the trough in exposure to GC lasts less than 12 hours. A long pulse of glucocorticoids lasting 48 hours led most of the cells to differentiate under the ...

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...

Brief Summary: This prospective singleton birth cohort (N=288, 43.4% male) from Flanders, Belgium, was a subset of a larger longitudinal cohort (ENVIRONAGE). The authors used a targeted proteomic panel to measure 386 inflammatory-related proteins in cord blood and examined their associations with birth weight (BW), birth weight ratio (BWR - BW divided by the median BW for gestational age for sex and parity), and rapid infant weight gain (defined as [weight z score at 12 m minu...

Brief Summary: This study analyzed ovariectomy samples from 52 transmasculine individuals who had been using testosterone for >1 year (median 32, IQR 27–39 months) with serum concentrations in the male reference range. In one third (16/52) of the cohort, histological signs of recent ovulatory activity were observed, including the presence of ovulatory follicles, corpus luteum and corpus albicans. This was similar in the subgroup of 15 individuals who had previously us...

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...