ESPE Yearbook of Paediatric Endocrinology

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...

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: 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...

Pediatr Diabetes. 2018 Apr 19. doi: 10.1111/pedi.12683.According to these authors, earlier studies had shown that children with type 1 diabetes mellitus (T1D) experience mild cognitive alterations compared to healthy age-matched controls. This might develop during the course of the disease and relate to both hypo- and hyperglycemia. Another explanation points to psychosocial factors or common u...

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 Endocrinol Metab 2017 Nov 1;102(11):3869-3903This Endocrine Society endorsed paper is an update of the 2009 version, also published in JCEM, with clinical guidelines for endocrine management of patients with GD. The major focus is on adult patients but a large part is also focusing on children and adolescents with GD, contributed by co-authors with pediatric endo...

To read the full abstract: Inflamm Bowel Dis. 2017;23:1410-1417This cross-sectional study analyzed bone health status by high-resolution peripheral quantitative computed tomography (HRpQTC) of a Swiss Cohort of young patients with inflammatory bowel disease (IBD) in comparison to healthy controls, matched for sex, age, height and fracture history. The results showed subtle abnormalities in...

To read the full abstract: Diabetes Care. 2017;40:1002-1009Quality of life (QOL) measures have increasingly been considered as end-points of medical interventions. Both general QOL and health- and disease-specific quality of life can be assessed using well defined and validated questionnaires. The TEENs study is an international, cross-sectional study of youth with T1DM. 5,887 participants were follo...

To read the full abstract: Lancet Diabetes Endocrinol 2017; 5:853-63 This prospective, randomized trial investigates the benefits of iodine supplementation (200 mcg per day) in pregnant women from Thailand and India on the neurological development of their children. Iodine readily crosses the placenta and is required for the synthesis of thyroid hormones by the fetal thyroid gland. In add...

To read the full abstract: Sci. Signal. 2018;11:eaap9415Women are more frequently affected by autoimmune disorders than men. A role for estrogen was suggested by the observation that the development of inflammatory bowel disease was associated with oral contraceptive use. Women also respond to infection and vaccination with higher antibody production and a T helper 2 (TH2) cell&#8211...