ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: BMJ Open. 2019;9:e024705.This protocol paper describes an innovative phase II trial to study the effect of a single low dose of adjuvant rituximab (a chimeric anti-B-cell monoclonal antibody targeting the surface molecule CD20) compared to classical carbimazole therapy in adolescents and young adults with Graves’ disease. Carbimazole treatment will be stop...

Abstract: Nature. 2018 Sep;561(7722):195–200.In brief: This study used various cell-based methods and animal models to investigate the RANK-RANKL signaling pathway in bone homeostasis. The authors show for the first time, that reverse signaling exists from osteoclast to osteoblast and that vesicular RANK, secreted by the osteoclast, relays information to the osteoblast...

Abstract: Endocrinology, Volume 159, Issue 7, July 2018, Pages 2741–2758In brief: Eldecalcitol, a long acting active vitamin D3 analogue with lower affinity for vitamin D receptor and resistance to inactivation by vitamin D 24-hydroxylase, causes FGF23 resistance. This leads to complete restoration of renal phosphate transport and NaPi-2a protein levels and improves ra...

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 ...

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: Am J Med Genet A. 2019; 179(7):1205–1213.X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder, with an estimated incidence in the USA of ~1:17,000 all births (male and female) and 1:21,000 male births. X-ALD is caused by mutations in the X chromosome gene ABCD1, which encodes the peroxisomal membrane protein, ATP-bin...

Front Pediatr 2019, 7:144. DOI: 10.3389/fped.2019.00144• The outcomes of feminizing genitoplasty of 46,XX individuals with CAH were reviewed in this cross-sectional study.• The study highlights the importance of cultural sensitivities, access to medical treatment and timing of the diagnosis on attitudes toward feminizing genitoplasty in Malaysia.<p cl...

To read the full abstract: Nature 2018;560:489–493.This paper reports competitive gut colonization experiments in mice. Compared to adult mice, neonatal mice showed much higher expression of the flagellin receptor Tlr5 in their intestinal epithelial cells, and exposure to this protein during the first 2 weeks of life, before weaning, was crucial in determining lifelong...

To read the full abstract: N Engl J Med 2019;380:1235–1246This paper reports a randomized, double-blind, placebo-controlled, phase 3 trial of darolutamide, a novel oral androgen-receptor antagonist, in 1509 men with non-metastatic, castration-resistant prostate cancer. Median metastasis-free survival was significantly longer with darolutamide (40.4 months) than placebo (18.4 ...

To read the full abstract: J Clin Invest 2018;128:960-969Mouse models for PWS are urgently needed to facilitate drug development for treatment of hyperphagia and obesity in PWS patients. Here, the authors set out to create a mouse model that better recapitulates human PWS; they chose Snord116 as the target. Snord116 comprises a cluster of noncoding RNAs (ncRNAs) on paternal chromosome 15q11.2. Deletio...