ESPE Yearbook of Paediatric Endocrinology

Pediatrics 2021 Mar;147(3):e2020024182. 10.1542/peds.2020-024182 https://pubmed.ncbi.nlm.nih.gov/33526606/This sub-analysis of Teen-LABS study shows very similar improvements over 5 years after bariatric surgery between younger and older adolescents with severe obesity in %BMI change (−22.2% vs. −24.6%, respectively), resolution...

Eur J Endocrinol 2021;185:K7–K11 doi: 10.1530/EJE-21-0312Brief Summary: Steroid profiling of 10 placentas of healthy full-term neonates (five male and five female) using liquid chromatography-tandem mass spectrometry revealed the presence of C11-oxy C19 steroids (androgens) in the fetal-placental unit at term – pointing to alternative androgen pathways in this unit.<p cla...

To read the full abstract: Nat Commun. 2018 May. 17;9(1):1977.This population study reports 26 loci for ages at menarche and menopause in a Japanese population and demonstrates widespread differences in allele frequencies and effect estimates between Japanese and European variants.Over the past decade, genome-wide association study (GWAS) meta-analys...

To read the full abstract: Eur J Endocrinol. 2019 May 1;180(5):281–290.This longitudinal prospective study of 61 children with a 5-10 years follow-up post severe traumatic brain injury evaluates the prevalence of pituitary deficiency and precocious puberty.In children, retrospective and prospective studies report variable rates of hypothyroidism...

Front Endocrinol (Lausanne). 2022 Mar 16;13:869019. doi: 10.3389/fendo.2022.869019. PMID: 35370973. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8966543/Brief Summary: This mouse study explores the function of alpha-tanycytes, which are neurogenic stem cells located in the medio-basal hypothalamus and expres...

Clin Endocrinol (Oxf). 2021 Mar;94(3):392–398. doi: 10.1111/cen.14364. PMID: 33140844.In this retrospective study, random growth hormone (GH) levels were compared between newborns (mean age 9.07±6.6 days) with or without GH deficiency. A cut off of 4.5 ng/ml was established as the GH value to diagnose congenital GH deficiency. This value had a 100% sensitivity and 85% specificity for d...

Int J Obes (Lond). 2021;45(1):66–76. doi: https://doi.org/10.1038/s41366-020-00673-6This study investigated the influence of MC4R variants on treatment effectiveness in a large cohort undergoing an outpatient treatment program. Carriers of MC4R loss-of-function (LoF) variants showed a lack of improvement in BMI, in contrast to non LoF carriers.As we learn th...

To read the full abstract: J Pediatr 2017; 187:206-12SRS is a clinically heterogeneous imprinting disorder. Although the understanding of its genetic basis has gradually advanced, about 40% of patients still have an unknown molecular defect. In subjects with unknown etiology, diagnosis is primarily clinical, based upon the Netchine-Harbison scoring system (NH-CSS) [31]. How...

To read the full abstract: Arch Dis Child 2018;103:637-642Management of thyrotoxicosis in children and adolescents remains challenging and treatment varies considerably among institutions. The patient’s age, clinical status and likelihood of remission should be considered when counseling patients and parents. Nevertheless, individual prognosis of antithyroid drug treated Graves’ diseas...

Brief summary: Using a combination of expression studies in human embryos as well as functional studies in zebrafish and genetic sequencing of patient with congenital hypogonadotropic hypogonadism, this study identified a novel role for Jag1/Notch signaling in the development of GnRH neurons.GnRH neurons have a unique characteristic as they start life in the olfactory placode and then migrate into the hypothalamus during embryonic development, thanks to ...