ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Nature communications vol. 11,1 1536. 24 Mar. 2020. doi: https://www.nature.com/articles/s41467-020-14451-5This multi-trait genome-wide association study (GWAS) for male puberty timing identifies 76 independent signals for puberty timing and highlights relationships with natural hair colour and lifespan. The timing of puber...

To read the full abstract: Nat Biomed Eng. 2020 May;4(5):499–506. doi: 10.1038/s41551-019-0508-y.Glucose-responsive insulin delivery systems that mimic pancreatic endocrine function could enhance health and improve quality of life for people with type 1 and type 2 diabetes with reduced β-cell function. However, insulin delivery systems with rapid in vivo glucose-respon...

To read the full abstract: J Clin Invest. 2020;130(5):2319–2331.This clinical study assessed the effect of the β3-adrenergic agonist mirabegron on glucose homeostasis in obese individuals.Chronic activation of β3-receptors in mice leads to the appearance of brown-like (e.g. ‘beige’) adipocytes in white adipose tissue, a process referred to as ...

To read the full abstract: Annals of Global Health. 2020; 86(1): 43, 1–8. doi: https://doi.org/10.5334/aogh.2669• The authors assessed the prevalence of diabetic microvascular complications in 155 children and adolescents with Type 1 diabetes in northwestern Tanzania.• They observed poor diabetes control in 69% of the patients and a high rate of diabetic nephropathy (32.9%), retin...

To read the full abstract: Nat Commun 2019;10:163.Central estrogen signaling via estrogen receptor alpha (ERα) coordinates energy expenditure, reproduction and, in concert with peripheral estrogen, impacts skeletal homeostasis. Here, the authors showed that eliminating ERα in kisspeptin arcuate nucleus neurons resulted in high bone mass phenotype in female mice only.<p clas...

To read the full abstract: Science. 2018;362(6411).Here, developmental regulation of deiodinases DIO2 and DIO3 were identified as main regulators of thyroid hormone dependent sequential cone subtype specification in human retinal organoids. Either complete loss of thyroid hormone signaling or non-physiologically high thyroid hormone levels completely suppressed either medium and long wav...

J Clin Endocrinol Metab. 2019 Feb. doi: 10.1210/jc.2018-02288. [Epub ahead of print]Short stature is the most common reason for referral to pediatric endocrinologists. Familial short stature (FSS) is used to describe a child with a stature below the normal but within the parental target range and with at least one short parent.In the last years, there has been a widesp...

Abstract: N Engl J Med. 2019;380(12):1150–1157. PMID: 30893535.In brief: Homozygous deletion of the group-specific component (GC) gene that encodes for vitamin D–binding protein causes persistently low measurable 25-hydroxy Vitamin D concentrations with no clinical features of rickets or osteomalacia.Comment: Vitamin D and ...

Lancet Diabetes Endocrinol. 2018 Oct;6(10):771–780.doi: 10.1016/S2213-8587(18)30197-9.For the first time a prospective randomized treatment study has been performed for individuals with a DSD. This national multi-center, double-blind, randomized, cross-over trial compared estrogen therapy to androgen replacement in complete androgen insensitivity syndrome ...

J Clin Endocrinol Metab. 2019 Apr 1;104(4):1160–1170.doi: 10.1210/jc.2018-01866. PubMed PMID: 30388241This retrospective single center study from Brazil assessed the possible effects of prenatal androgen exposure, degree of virilization of the external genitalia, sex of rearing and diagnosis of DSD on later psychosexual outcomes (including gender identity, gender ...