ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Cell Metabolism 2018; 28: 23–32Pathogenic mutations in the melanocortin-4 receptor gene (MC4R) are the most common cause of monogenic obesity. However, very limited treatment options exist. Therefore, these authors investigated a glucagon-like peptide-1 receptor agonist (GLP-1 RA) as a treatment option for these patients. The findings are of major signific...

Lancet Glob Health 2018;6: e875–84. DOI: 10.1016/S2214-109X(18)30231-6• Perinatal chronic undernutrition plays a role in adult-onset cardiometabolic disease.• In this 40-year, longitudinal cohort in Guatemala, protein-energy nutritional supplementation during the first 2 years of life reduced the odds of diabetes but increased the risk of obesi...

Am J Clin Nutr. 2019 Jun 1;109(6):1696–1708. DOI: 10.1093/ajcn/nqz023• This systematic review and meta-analysis aimed to determine the impact of large-scale food fortification (LSFF) on health and nutrition outcomes in low- and middle-income countries (LMIC).• The authors demonstrate that LSFF increases serum micronutrient concentrations including iodine...

To read the full abstract: BMJ 2018;360:k452The role of thyroid hormones during early gestation is well established by animal studies. In humans, previous studies have shown that maternal hypothyroxinemia was associated with either an early reduction in psychomotor scales (e.g. Bayley scale of infant development) or later in late infancy or adolescence. However, randomized controlled trials on...

To read the full abstract: J Endocr Soc 2017;1:1006-1011Besides its structural role in the extracellular matrix, aggrecan orchestrates a plethora of key mechanisms in endochondral ossification, such as embryonic morphogen distribution, regular indian hedgehog (IHH) / Sox9 expression and columnar chondrocyte orientation. Thus, homozygous loss-of-function mutations in the ACAN gene, encoding...

To read the full abstract: J Clin Endocrinol Metab. 2018;103(4):1330-1341Glucocorticoids exert an inverted U-shaped influence on human cognition, particularly on acquiring and consolidating memory (25), whereas androgens have an overall beneficial effect on cognitive control, verbal memory, and spatial cognition in humans (26). Although previous studies in patients with CAH have con...

Brief summary: In recent years, generation of human organoids of different tissues from human embryonic stem cells have been realized, e.g. intestine, liver, and lung among others. In contrast, so far all attempts to generate fully mature and functional human thyroid follicular cells from stem cells was not successful. Romitti et al. present for the first time successful generation of transplantable and functional human thyroid organoids derived from human embryonic s...

Brief summary: This cohort study explored the potential link between self-reported age at puberty and markers of male fecundity.In this article, the authors explored pubertal timing as a determinant of male fecundity. This cohort study was based on the Danish National Birth Cohort which consisted of around 100 000 mother-child pairs recruited during 1996–2002. A little more than 1000 men aged 19 were evaluated for semen volume, sperm concentration, ...

Brief summary: This prospective longitudinal study compared serum reproductive hormone levels and testicular volume around the onset of puberty between cryptorchid and healthy boys.Congenital cryptorchidism is the most common congenital anomaly among newborn boys, and still little is known about pubertal testicular function and serum reproductive hormone levels during puberty in this population.Pubertal follow-up with clinical exam...

Brief summary: This paper describes consensus expert recommendations for the diagnosis and management of patients with Adrenoleukodystrophy.Adrenoleukodystrophy (ALD), a progressive metabolic disorder with variable and unpredictable clinical course, is caused by pathogenic variants in ABCD1 gene leading to deficient β-oxidation of saturated very-long-chain fatty acids (VLCFAs) (1, 2). Patients are asymptomatic at birth but ...