ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Trans Vis Sci Tech. 2019; 8(3):29. doi: 10.1167/tvst.8.3.29• This study investigates the feasibility of acquiring diagnostic quality fundus photographs in children using a child-friendly smartphone.• Photographs were acquired in 43 patients (mean age 6.7 years) with i.e. retinoblastoma, Coats’ disease, commotio retinae and optic nerve hypoplasia.•...

To read the full abstract: Horm Res Paediatr: 2018;89(6):413–422.This study examined the clinical and molecular aspects of girls with Turner syndrome and hyperinsulinaemic hypoglycemia (HH). Records of girls with hyperinsulinism and Turner syndrome were reviewed.The findings expand on previous observations suggesting a link between Turner syndrome and hyperins...

To read the full abstract: J Clin Endocrinol Metab. 2019; pii: jc.2019–00563.Primary aldosteronism (PA) is one of the most common causes of secondary hypertension, affecting ~6% of the adult general hypertensive population. Patients with PA are at increased risk of cerebrovascular and cardiovascular morbidity, renal abnormalities and metabolic syndrome. The activity of mTORC1 ...

To read the full abstract: Endocr Relat Cancer. 2019; 26(1): 103–117.Incidence of adrenocortical carcinomas shows a bimodal distribution, being more common in children <10 years and in adults aged 40–50 years. Their prognosis is poor, with only 10–25% 5-year survival. Ectopic expression of LHCGR and GNRHR has been reported in ACTH-independent adrenal hyperplasia ...

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: 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...