ESPE Yearbook of Paediatric Endocrinology

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: Proc Natl Acad Sci USA. 2018; 115(51): 12997–13002.Humans are constantly challenged by multiple stressors, to which the body’s response and adaptation are essential. The adrenal gland plays a major role in the response to both physiological challenges and stress. Maintenance of the adrenal is partly accomplished by proliferation and differentiat...

To read the full abstract: J Clin Endocrinol Metab. 2018; 103(8): 2998–3009.Conventional glucocorticoid (GC) therapy in adrenal insufficiency (AI) does not fully mimic the endogenous cortisol circadian rhythm, and this may adversely affect long-term health. In the recent DREAM trial (Dual Release Hydrocortisone vs. Conventional Glucocorticoid Replacement in H...

To read the full abstract: De Psychopathol. 2019; 31(2): 419–431.Environmental stimuli, especially in the pre- and postnatal periods, can have long-lasting effects on offspring development and health. Prenatal exposure to maternal depression, anxiety or stress may alter functioning of the hypothalamic-pituitary-adrenal (HPA) axis. Here, epigenetic modifications of DNA in genes...

To read the full abstract: Endocrinology 2017 Aug 1;158(8):2543-2555Maternal obesity and gestational diabetes (GDM) are associated with a higher risk for maternal, and offspring complications and appear to be mediated at least partly by an aberrant placental morphology and function, with altered nutrient transport capacities. The human placenta adapts to mild maternal diabetes by limiting placent...

To read the full abstract: Endocrinology. 2018 Jan 1;159(1):368-387Hypothalamic inflammation has been linked to the development and progression of obesity and its sequelae. Obesity in rodents and humans is associated with gliosis of the arcuate nucleus, a key hypothalamic region for the regulation of energy homeostasis and adiposity. Gliosis, the activation of astrocyte and microglial cell popula...

To read the full abstract: J Bone Miner Res 2018;33:430-436Bone mass increases dramatically during puberty. The process of sexual maturation is therefore likely to impact lifelong bone health. Bone mineral density (BMD) tracks throughout life and later age at menarche is associated with increased osteoporosis risk in women, possibly because of combined effects of later menarche and lower peak bone ma...

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: 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...

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...