ESPE Yearbook of Paediatric Endocrinology

Cell 2018;175:605–614.DOI: 10.1016/j.cell.2018.07.044.http://www.ncbi.nlm.nih.gov/pubmed/30340032Summary: Epidemiological, clinical intervention trials and experimental evidence indicate the negative impact of excessive carbohydrate uptake. This review details the history of carbohydrate consumption and mechanisms of ca...

Brief summary: This study investigated how frequently negative terminology such as ‘fail’ and ‘morbid obesity’ was used in scientific publications dealing with bariatric surgery in peer reviewed journals. 2.4% of the publications analyzed included the term ‘fail’ and 16.8% contained the term ‘morbid’ in conjunction with obesity. This study showed that negative language, blaming the patient for the lack of weight loss or weight regain, wa...

Brief summary: This cross-sectional study found high prevalences of high dietary intakes of fat and sugar and inadequate intakes of fiber among obese Indonesian adolescents, and a statistically significant correlation between fiber intake and HDL cholesterol levels.Low and middle-income countries are experiencing nutritional transitions with increasing prevalence of obesity and cardiovascular disease risks. This cross-sectional study performed in Indones...

Brief summary: This case series of five patients with 21-hydroxylase deficiency congenital adrenal hyperplasia (CAH) treated in Damascus, Syria is presented to highlight the current management, including the difficulties of sex assignment, in this cultural context.In Syria, female infants with 21-hydroxylase deficiency CAH and resulting virilization are generally considered to be male until proven otherwise. This case series reports on the care of five c...

To read the full abstract: Science 2019;365:eaat9351.As in humans, weight gain in mice leads to fatty liver disease, inflammatory adipose tissue, and insulin resistance. The depletion of the microbiota through antibiotic treatment rescued this weight gain. The cohousing of T-Myd88–/– mice transferred the weight gain to wild-type mice. The major feature of the microbiota formed within T-Myd88–/– mice was a reduction in Clostri...

To read the full abstract: J Clin Endocrinol Metab. 2019; 104(1): 118–126.Primary adrenal insufficiency (AI) is a major clinical manifestation in boys and men with X-linked adrenoleukodystrophy (ALD), a progressive neurodegenerative inborn error of metabolism readily diagnosed by detecting elevated plasma very-long-chain fatty acids (VLCFAs), in particular the ratios of C26:0/...

To read the full abstract: N Engl J Med. 2018;379(14):1303–1312.This analysis of longitudinal BMI data from early childhood to adolescents in 51,505 German subjects (CrescNet patient registry) allows a new insight into BMI development, specific dynamics and BMI trajectories from childhood to early adulthood.The exact pattern and time course of weight gain duri...

Brief summary: This retrospective longitudinal study included 5698 patients with multiple height measurements since birth to the near-adult age. The aim was to define different growth patterns of children from birth to 18 years corrected for gestational age, sex and auxological status at birth in order to early identify children at risk for adult short stature. Adult height was significantly reduced in preterm and/or in small-for-gestational-age (SGA) children, with no sex dif...

Matrix Biol. 2020 Aug;90:40–60 Abstract: https://pubmed.ncbi.nlm.nih.gov/32173581/In brief: Mutations in 3-hydroxylation complex genes CRTAP and P3H1 cause osteogenesis imperfecta type VII and VIII, respectively. However, the pathogenic mechanism by which these mutations cause disease remains unclear. This study points to a defective chaperone role of the 3-h...

Lancet Diabetes Endocrinol. 2020; 8(9): 748–761.https://pubmed.ncbi.nlm.nih.gov/32730798/The authors report the outcomes from the pivotal phase 3 trial in patients with Cushing’s disease of osilodrostat (a potent oral inhibitor of cytochrome P450 11B1, [mitochondrial 11β-hydroxylase]). Twice-daily osilodrostat rapidly reduced mean 24-h urine free cortisol (UFC) and sustained ...