ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: J Clin Endocrinol Metab. 2018; 103(6):2336-2345Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders characterized by impaired cortisol production in the adrenal cortex. Classic CAH represents the most common cause of primary adrenal insufficiency in childhood (10). Infant mortality in patients with CAH has decreased since the advent of...

To read the full abstract: Diabetes Care. 2018;41:326-332The question whether or not T1DM patients with low HbA1c levels, which are thought to characterize good metabolic control, in fact experience hypoglycemia and most importantly severe hypoglycemia more frequently than T1DM patients with high HbA1c levels and hence worse metabolic control has been discussed controversially. However, it is commonl...

To read the full abstract: Obesity 2018;26(4):776-781Here, Twig et al. shed light on an important, but not well investigated facet of the complex, multi-organ system chronic disease simply termed ‘obesity’. Using the large statistical power of this impressive, nation-wide database, the authors demonstrate high hazard ratios for obesity-related kidney mortality in a relatively young cohort...

To read the full abstract: Lancet 2018; 391(10133):1927-1938See comment on 13.7...

To read the full abstract: Lancet Diabetes Endocrinol 2018; 6:69-80The prevalence of T2DM in youth is increasing dramatically worldwide, but the bulk of the increase is expected to take place in Africa, South East Asia and South America. Although genetic factors may seem to be the obvious reason for such geographical differences, a careful analysis of the existing literature suggests that...

To read the full abstract: Int J Endocrinol Metab 2017; 15(3):e55451Systematic neonatal screening for congenital hypothyroidism (CH) was first proposed by Dr Jean Dussault, a Canadian (adult) endocrinologist, in 1974. It was rapidly implemented in most high-income countries in the late 1970’s and 1980’s. Ideally, a screening program should be highly sensitive (able to ...

To read the full abstract: Lancet 2017;389:2473-2481We are all familiar with the ‘placebo’ effect, when the psychological anticipation of a ‘benefit’ of treatment is so strong that it adds to or even outweighs the actual physical benefits. Many doctors have even admitted to prescribing placebo tablets, or “sugar pills” to their patients, for exam...

Brief summary: This is the first multi-national phase 2 dose finding trial aimed at investigating efficacy and safety of the long acting GH (Somapacitan) with daily GH in short children born SGA. 62 GH treatment-naïve short children born SGA were enrolled in the study. Efficacy was valuated with estimated mean annualized height velocity (HV) after 26 weeks of follow-up. Somapacitan showed similar efficacy of daily rhGH. The study will be extended for further 4 years in or...

Brief summary: This study investigated the brain structure in young adult patients with autoimmune Addison’s disease (AAD). It found that patients with AAD had a 4.3% smaller total brain volume but no major differences in subcortical structures compared to healthy controls.Both short- and long-term disruptions in cortisol concentrations and rhythmicity affect brain structure development. Animal studies have shown that both pre- and postnatal disturb...

Brief summary: In this Minireview, one pediatric and one adult case with 21-hydroxylase deficiency (21OHD) are discussed with respect to different clinical questions and steroid biomarkers reflecting their diagnosis, treatment and disease control. Basics of the disease mechanisms with different aspects throughout life (childhood, adulthood, sex, fertility and pregnancy) are discussed to lay grounds for the interpretation and use of laboratory data, including the newer 11-oxyge...