ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: J Clin Endocrinol Metab. 2018 Sep 1;103(9):3420–3429.This whole-exome study in 67 probands and 93 relatives from a large cohort of familial delayed puberty identifies a new heterozygous HS6ST1 mutation as a novel cause of delayed puberty.The underlying pathophysiology of early and delayed puberty remains unexplained in most ...

To read the full abstract: J Pediatr. 2019;207:205–2129.Psychosocial issues and psychiatric disease are prevalent in young patients with type 1 diabetes (T1D). Most importantly, eating disorders, anxiety-related behavioral problems as well as depression have all been shown to occur (1). In a nationwide population-based survey, this group had previously reported on relationships betw...

Brief Summary: This retrospective cohort study investigated referral closures due to reidentification with birth-registered sex at the Child and Adolescent Health Service Gender Diversity Service in Perth, the sole provider of gender-affirming medical treatment for individuals <18 years in Western Australia. Out of 548 referral closures, 29 reidentified with birth-registered sex. Only 2 did so after having started medical treatment, constituting 1.2% (95% CI, 0.1%-4.4%) of...

Brief Summary: This study identifies a reliable cut-off value for the glucagon stimulation test, which may be used as an alternative to the insulin tolerance test (ITT) in the diagnosis of growth hormone deficiency (GHD) in transition age.Many patients with childhood-onset growth hormone deficiency (GHD) show normal GH secretion when re-tested at the end of growth, especially those with isolated GHD and normal or small pituitary gland (1). ITT is recogni...

To read the full abstract: Lancet Child Adolesc Health. 2020;4(3):210–19. PMID 31978372.In this non-randomized matched-control study, 81 obese adolescents undergoing Roux-en-Y gastric bypass surgery (RYGB) who participated in the Adolescent Morbid Obesity Surgery (AMOS) study (11) were compared with 80 obese controls from the Swedish Childhood Obesity Treatment Register (BORIS) who rec...

Lancet Diabetes Endocrinol. 2020;8(8):683–692. doi: 10.1016/S2213-8587(20)30163-7. PMID: 32707116SAGhE is a large independent European consortium including eight different countries (Belgium, France, Germany, Italy, The Netherlands, Sweden, Switzerland, and the UK) which was set up to evaluate the long-term safety of rhGH in a large cohort (>24 000) of young adult patients t...

Eur J Endocrinol. 2021 Dec 1;186(1):65-72. PMID: 34714774, doi: 10.1530/EJE-21-0910.Brief Summary: This brief report describes a novel gene, PPP2R3C, in the pathogenesis of complete and partial XY and XX gonadal dysgenesis (GD).GD is a very rare condition with an estimated prevalence of 1–9 cases per 100,000 live-births. GD can be classified as either complete...

Am J Hum Genet. 2022;109(4):553-570. PMID: 35202564. doi: 10.1016/j.ajhg.2022.02.002.Brief Summary: The authors present elegant data showing that X-LAG is a TADopathy of the endocrine system and that the rewiring of GPR101 -enhancer interactions most likely causes the upregulation of GPR101 expression in X-LAG-related pituitary tumors.The X-LAG micr...

Nat Rev Cardiol. 2022, 19(8):543-554. doi: 10.1038/s41569-021-00647-9This review discusses the role of apo-lipoprotein B (apoB)-containing lipoproteins (commonly estimated by LDL cholesterol) in the process of atherosclerosis throughout the life-course. The authors comprehensively describe the development of atherosclerosis according to the response-to-retention hypothesis, and they presen...

To read the full abstract: Sci Rep 2017;7:10722This paper elegantly describes how precise quantification of ingested radioactive iodine in the Japanese population was measured after the Fukushima catastrophe. The mainstay of such a detailed analysis by the Ministry of Health, Labor and Welfare was the sequential quantification and documentation of all sources of radioactive iodine in...