ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: J Clin Endocrinol Metab. 2020; 105(3): dgz145. PMID: 31665349.Prenatal treatment with glucocorticoids (GC) is used in several clinical indications. However, the long-term outcome on offspring metabolic, somatic and cognitive health has raised significant concern. In rodents, high glucocorticoid levels inhibit development of beta cells during fetal life and lead to...

To read the full abstract: JAMA. 2020 Jan 28;323(4):339–351. doi: 10.1001/jama.2019.21565. PMID: 31990315It is unclear how many children in the general population have features of anti-islet cell autoimmunity without later developing type 1 diabetes (T1DM). This public health screening program determined the population prevalence of islet cell autoantibodies (ICA) and the risk for pro...

To read the full abstract: Clinical Endocrinology 2020;92:434–442.The authors developed and applied questionnaires to capture various aspects of health-related quality of life (HR-QoL) and psychosocial functioning in a large cohort of adult women with Turner syndrome (TS). Women with TS reported a lower HR-QoL, perceived more stress and experienced increased fatigue compared to the general population. They found a relationship between HR-Qo...

To read the full abstract: J Med Genet. 2018;55:693–700.This genetic study identified, by whole exome sequencing, mutations in the insulin receptor substrate 4 gene (IRS4) in 5 families with isolated central congenital hypothyroidism. Thus, the authors add a fifth genetic cause of isolated congenital hypothyroidism to the previously known genes: TSHB, TRHR, IGSF1, ...

Abstract: Nature. 2019 Apr;568(7753):541–545.In brief: Murine knockout studies unravel the developmental origin of osteoclasts in embryonic, erythro-myeloid progenitors, acquiring exceptional longevity by constant fusion with monocytes and rejuvenation of cellular nucleii throughout postnatal life.Comment: Osteoclast function is essentia...

To read the full abstract: PLoS Genet. 2019; 15(1):e1007603.This genome wide association study reveals new insights into the genetic basis of thinness by investigating a large cohort of healthy persistently thin individuals. In the past, it has been speculated that inheritance of thinness may constitute a protective factor against environmental factors disposing to obesity (1). Neverthel...

Lancet Glob Health 2019;7: e132–47. DOI: 10.1093/cid/civ844• This cluster-randomised, community-based trial investigates whether the combination of a water, sanitation and hygiene (WASH) intervention and of improved infant and young child feeding (IYCF) intervention improves stunting and anemia in children living in rural Zimbabwe.• Stunting decreased with ...

To read the full abstract: JAMA 2017 Jun 6;317(21):2207-2225Excessive and insufficient gestational weight gain are associated with adverse pregnancy outcomes, including small for gestational age (SGA), large for gestational age (LGA), macrosomia, cesarean delivery, gestational diabetes mellitus (GDM), preeclampsia, postpartum weight retention, and offspring obesity. The Institute of Medicine (IO...

To read the full abstract: J Clin Endocrinol Metab. 2017 Jul 1;102(7):2584-2594Maternal obesity and nutrient excess in utero increase the risk of future metabolic diseases. The mechanisms underlying this process are poorly understood, but probably include genetic, epigenetic alterations and changes in fetal nutrient supply. Placenta, and particularly amniotic fluid, is the in utero ...

To read the full abstract: J Urol. 2018 Apr 30. pii: S0022-5347(18)43073-X[Comments on 6.15 and 6.16] There is ongoing discussion regarding when extended genetic tests are indicated in DSD. There is also a discussion regarding what should be included in the definition of DSD. Are mild forms of hypospadias a type of DSD and where sho...