ESPE Yearbook of Paediatric Endocrinology

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...

To read the full abstract: Eur J Pediatr 2017; 176:873-879Achondroplasia (ACH) is the most common genetic form of disproportionate short stature, occurring in 1:15,000 –1:40,000 live births [28]. Most patients have a gain of function mutation in the transmembrane domain of the fibroblast growth factor receptor 3 (FGFR3), leading to prolonged intracellular MAPK signalin...

To read the full abstract: Am J Epidemiol 2017;185:1255-1262Vitamin D and adequate dietary calcium intake are important for skeletal health and therefore it was expected that vitamin D concentration would be associated with increased fracture risk. However, here, the authors did not find any statistically significant association between concurrent 25(OH)D concentration and fracture risk. In addition...

To read the full abstract: J Clin Endocrinol Metab. 2018 Feb 1;103(2):649-659A minimum level of energy availability is required for the onset of puberty, whereas increased fat mass has been shown to be associated with precocious onset of puberty1,2. Recent genome-wide association studies have identified several loci for age at menarche also associated with obesity3-5. Whethe...

To read the full abstract: Proc Natl Acad Sci U S A. 2018; 115(17): E4091-E4100The hypothalamic-pituitary-adrenal axis is a critical neurohormonal network that regulates homeostasis and coordinates the stress response. Glucocorticoids (GCs) are critical for life and are key regulators of cognitive, metabolic and immunologic homeostasis (4). Clinical studies in healthy human subjects, usi...