ESPE Yearbook of Paediatric Endocrinology

Lancet Child Adolesc Health. 2021 Sep;5(9):662-676. doi: 10.1016/S2352-4642(21)00088-2. Epub 2021 Jun 30; PMID: 34214482.Brief Summary: This comprehensive guideline defines the role of cerebrospinal fluid tumor markers, whole-body imaging, and the indications, timing and risks of stalk biopsy, as well as criteria for discharge in children and young people with idiopathic pituitary stalk...

To read the full abstract: Nat Commun 2018;9.400Pheromones play a crucial role to identify potential mates and sexual motivation in mice. These molecules are detected by a specialized circuit which initiates in the nasal septum and then relies on GnRH neurons in the hypothalamus in a sex-dependent manner. Female pheromones induce LH/testosterone release in male mice whereas male pheromones i...

Brief summary: This retrospective study compared the efficacy and tolerability profiles of leuprolide and triptorelin in patients with central precocious puberty and did not find any significant difference between the two drugs.Treatment with GnRH analogues represents the standard of care for central precocious puberty (CPP) in order to preserve adult height potential1. Leuprolide and Triptorelin are the most prescribed drugs (1,2). They are g...

Diabetologia. 2021 Mar;64(3):630-640. doi: 10.1007/s00125-020-05346-7. PMID: 33404684.The derivation of iPSCs and their subsequent conversion to islet like clusters from a patient with diffuse CHI due to a homozygous mutation in the ABCC8 provided these authors a unique opportunity to study the molecular basis of CHI and to develop potential novel treatment options by screening...

J Appl Toxicol. 2021 Apr;41(4):572–586. doi: 10.1002/jat.4066. PMID: 329695In this study, pregnant dams were exposed to different types of organophosphate flame retardants (OPFRs) at a sensitive development period (from gestation to lactation). The offspring were fed either a high or a low-fat diet for 17 weeks and then underwent a battery of metabolic assessments. OPFR exposure did not alte...

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...

Pediatrics. 2021 Jul;148(1):e2020019000. doi: 10.1542/peds.2020-019000.Brief Summary: This case report of an infant with dysgenesis of the corpus callosum, whose whole genome sequencing (WGS) revealed variants of unknown significance (VUS) in ROBO1, demonstrates the potential of VUS in guiding clinical decisions.Next-generation sequencing (NGS) is increasingly...

julia.vonoettingen@mcgill.ca Can J Diabetes 2022: 46; 32e39. doi: 10.1016/j.jcjd.2021.04.010Brief Summary: This validation study and survey showed that the Diabetes Quality of Life for Youth (DQOLY) questionnaire and the EuroQol Visual Analogue Scale (EQ-VAS) are valid measures of Health-Related Quality of Life in Haitian youth with type 1 ...

To read the full abstract: J Bone Miner Res. 2020 Apr 24. doi: https://pubmed.ncbi.nlm.nih.gov/32329913/In brief: Hematopoietic stem cell transplantation remains the only curative treatment in children with severe osteopetrosis. According to this study, increased serum calcium and phosphate serve as good markers of successful engraftment, which leads to significant but incomplete n...

To read the full abstract: J Bone Miner Res. 2020;35(2):248–260.In brief: This randomized open-label trial in oligoamenorrheic athletes evaluated the effects of transdermal estrogen, oral estrogen or no replacement on bone metabolism, geometry, and microarchitecture. Transdermal estrogen treatment resulted in significantly greater increases in volumetric bone mineral d...