ESPE Yearbook of Paediatric Endocrinology

Abstract: N Engl J Med. 2019;380(12):1150–1157. PMID: 30893535.In brief: Homozygous deletion of the group-specific component (GC) gene that encodes for vitamin D–binding protein causes persistently low measurable 25-hydroxy Vitamin D concentrations with no clinical features of rickets or osteomalacia.Comment: Vitamin D and ...

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 ...

J Clin Endocrinol Metab. 2019 Apr 1;104(4):1160–1170.doi: 10.1210/jc.2018-01866. PubMed PMID: 30388241This retrospective single center study from Brazil assessed the possible effects of prenatal androgen exposure, degree of virilization of the external genitalia, sex of rearing and diagnosis of DSD on later psychosexual outcomes (including gender identity, gender ...

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: Endocrine. 2018 Jul; 61(1):76Hematopoietic stem cell transplantation (HSCT) is a curative treatment for life-threatening malignancies. However, late HSCT adverse effects cause substantial morbidity among long-term survivors. Metabolic complications, such as diabetes mellitus and hyperlipidemia, are the major late effects of pediatric HSCT, but the pathogenesis ...

To read the full abstract: Cancer. 2018 Sep 1; 124 (17): 3576.Glucocorticoids still represent one of the pillars in the treatment of paediatric hematologic malignancies, but they cause excessive weight gain through several mechanisms. However, it is unclear whether these glucocorticoids have a long-lasting effect on body weight, because studies have focused mainly on the acute effects du...

To read the full abstract: J Pediatr. 2019;207:205–2129.Psychosocial issues and psychiatric disease are prevalent in young patients with type 1 diabetes (T1D). Most importantly, eating disorders, anxiety-related behavioral problems as well as depression have all been shown to occur (1). In a nationwide population-based survey, this group had previously reported on relationships betw...

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: Nat Commun 2018;9.400Pheromones play a crucial role to identify potential mates and sexual motivation in mice. These molecules are detected by a specialized circuit which initiates in the nasal septum and then relies on GnRH neurons in the hypothalamus in a sex-dependent manner. Female pheromones induce LH/testosterone release in male mice whereas male pheromones i...