ESPE Yearbook of Paediatric Endocrinology

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...

Nat Commun. 2018 Dec 14;9(1):5319.doi: 10.1038/s41467-018-07784-9. PubMed [citation] PMID: 30552336Initial steps in the sex determination of the (human) testis depend on SRY regulating SOX9, but the exact mechanism that controls SOX9 expression remains unknown. These authors discovered four overlapping copy number variations (CNVs) upstr...

To read the full abstract: J Med Genet. 2019 Mar 15. pii: jmedgenet-2018-105714. [Epub ahead of print].Paragangliomas and pheochromocytomas (PPGL) are rare neuroendocrine tumours that can arise either from the adrenal medulla (pheochromocytomas, PCC) or from extra-adrenal paraganglia (paragangliomas, PGL). PPGLs are considered to be the most heritable of human tumours with at least...

To read the full abstract: Lancet Haematol. 2019 Jun; 6(6): e306.The St Jude Lifetime (SJLIFE) Cohort is a retrospective cohort of childhood cancer survivors (CCS), who are followed prospectively in order to evaluate long-term health outcomes. This study evaluated chronic health conditions in 980 childhood lymphoblastic leukaemia survivors of the SJLIFE cohort, compared to 272 matched co...

To read the full abstract: Nature Medicine 2019; 25(3):507-516.This paper shows that quantitative leptin expression is controlled by redundant cis elements and trans factors that interact with the proximal promoter together with a long noncoding RNA.Friedman’s research group discovered the adipocyte hormone leptin more than 20 years ago. They identified loss o...

To read the full abstract: Int J Cardiol 2018;272:333–340.Summary: In a multi-center prospective cohort study of 2401 European children, early life exposure to socioeconomic disadvantages, particularly living in low-educated families, having a non-traditional family structure, parental unemployment and the accumulation of >3 disadvantages were associated with higher ris...

To read the full abstract: N Engl J Med 2019;380:23-32.Summary: In this randomized primary prevention placebo-controlled trial of 25,871 US adults, with a two-by-two factorial design, supplements with omega-3 did not lower the overall incidence of adverse cardiovascular events or cancer compared to a placebo.Comment: Omega-3 fatty acids are polyun...

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: N Engl J Med 2019;380:33–44This paper describes a large randomized, placebo-controlled trial of vitamin D3 (cholecalciferol) 2000 IU per day in 25,871 US adults. After median follow-up of 5.3 years, supplementation with vitamin D did not alter the risk of the primary end points, invasive cancer of any type hazard ratio, 0.96; 95% confidence interval [CI], ...