ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: J Sex Med. 2020, Apr; 17: 570–84. doi: https://www.ncbi.nlm.nih.gov/pubmed/32111534This position statement provides an update for health-care professionals on recommended basic principles for care of transgender people, including male, female and nonbinary. It uses a developmental approach to describe the best care for prepubescent, pubescent and adolescen...

To read the full abstract: PLoS One. 2019;14(12):e0226262. geraldine.delbes@iaf.inrs.caMale childhood cancer survivors (CCS) show reduced fertility, mostly due to low sperm count. The links between DNA damage caused by cancer and its treatment, pubertal stage at diagnosis and future infertility are still unclear. This Canadian pilot study analysed reproductive parameters and sperm characteristics...

To read the full abstract: JAMA Pediatr. 2020;174(4):e195881. doi: 10.1001/jamapediatrics.2019.5881• The authors evaluated the change in pubertal onset in healthy girls around the world based on age at thelarche.• Overall, the age at thelarche decreased 0.24 years per decade from 1977 to 2013.• This decrease seems to reflect a worldwide trend....

To read the full abstract: Nature 2020; 581, 434–443The Genome Aggregation Database (gnomAD) Consortium https://gnomad.broadinstitute.org compiled data on ˜125,000 exomes and ~15,000 whole genomes from populations around the world. This is one of seven articles (also see Refs 1–6) describing their initial discoveries, showing the power of this vast dataset, and presenting a more comp...

To read the full abstract: J Endocr Soc. 2019 Feb 7;3(4):699–713.This paper describes a retrospective study of patients with congenital hyperinsulinism (CHI) who were treated with mammalian target of rapamycin (mTOR) inhibitor, sirolimus, in a tertiary service, and reviews the 15 publications reporting CHI patients treated with sirolimus.The diffuse forms of C...

To read the full abstract: J Clin Endocrinol Metab. 2018;103:3720–28.This nationwide prospective surveillance study aimed to estimate the performance of the current UK recommended TSH threshold (10 mU/L on day 5 after birth) for newborn blood spot screening compared to lower thresholds: 8 mU/L and 6 mU/L. Over a 12-month period, the authors included all patients with positive TSH ba...

To read the full abstract: JAMA Pediatr 2018;172:e180739.This randomised controlled trial of 1303 exclusively breastfed 3-month-old UK infants was primarily performed to test the impact of early introduction of solid foods, from age 3 months, on the risk of food allergies (1). Sleep was measured as a secondary trial outcome: the trial showed that early introduction of solids increa...

To read the full abstract: Development 2018;145. pii:dev146829Branching morphogenesis is a key process during organogenesis of ductal and exocrine organs, e.g. lung, kidney, pancreas, and liver1. Regulatory components and local interactions for lung branching morphogenesis have been described in detail, mostly relying on receptor-ligand interactions between embryonic ...

To read the full abstract: Nat Rev Endocrinol 2018;14:301-316The authors provide complete information as far as available on the prevalence of hypothyroidism, hyperthyroidism and iodine deficiency all over the world. Nutritional iodine is a key determinant of thyroid disease risk. Further factors influencing thyroid disease prevalence are smoking, ageing, genetic susceptibility, and endo...

To read the full abstract: Journal of Pediatrics 2018;192:105-114Rising degree of obesity has been shown to predict increased metabolic risk in obese children and adolescents (1). Nonetheless, it is unclear if BMI categories can be successfully applied to populations of obese children and adolescents for a risk-adapted stratification of therapeutic approaches, and here especially for the in...