ESPE Yearbook of Paediatric Endocrinology

N Engl J Med. 2020; 383(13): 1248–1261.https://pubmed.ncbi.nlm.nih.gov/32966723/Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is one of the most common autosomal recessive disorders. Patients with CAH have cortisol deficiency and in its most severe form, a potentially lethal aldosterone deficiency.In this review, the authors describe the c...

To read the full abstract: Nat Rev Endocrinol. 2020; 16(5): 284–296. PMID: 32203405.The adrenal gland is the primary source of 11-oxygenated 19-carbon steroids, also termed 11-oxyandrogens, which have several roles in human physiology and disease. These include 11β-hydroxyandrostenedione (11OHA4), 11-Ketotestosterone, (downstream metabolite of 11OHA4, mostly produced in peripheral...

To read the full abstract: BMJ. 2017 Jun 30;357:j2963This group of 5 transgender and non-medical professional authors has written a unique “What Your Patient is Thinking” article published in the BMJ. Their aim was to tell health care providers, and others who manage transgender people, how they want to be received and treated and what went wrong in many previous meetings with the healt...

To read the full abstract: Cochrane Database Syst Rev. 2017; 11:CD008727Glucocorticoids (GCs), such as prednisone (prednisolone) or dexamethasone, are essential agents in the treatment of acute lymphoblastic leukemia (ALL), the most common malignancy in childhood. They are administered in highly supraphysiologic doses in cyclic courses. Thus, every pediatric endocrinologist fears HPA axi...

To read the full abstract: Int J Obes 2018; 42: 115-118Intragastric balloons have now been used for more than 30 years in the treatment of extreme obesity. There are more than 30 studies published with almost 5,000 patients on the efficacy and safety of gastric balloons. However, due to several, sometimes severe side effects and the lack of convincing long-term outcomes, this treatment approach ha...

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: 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...

Brief Summary: This phase 2, double-blind, placebo-controlled trial, randomized 91 people (10-30 years-old) diagnosed with type 1 diabetes (T1D) within the previous 100 days to receive either oral baricitinib (n=60) or placebo (n=31) for 48 weeks. Baricitinib was safe and preserved the capacity of β-cells to secrete insulin.Baricitinib is a Janus kinase (JAK) inhibitor blocking cytokine signalling and is already an effective disease-modifying treatm...

Diabetologia. 2021 Jun;64(6):1342–1347. 10.1007/s00125-021-05428-0. https://pubmed.ncbi.nlm.nih.gov/33830302/By studying data from very large-scale genome-wide association studies (GWAS) in European ancestry individuals, the authors compared genetic signals that confer risk of type 1 (T1DM) and type 2 diabetes (T2DM). Only 5 signals ...

To read the full abstract: Proc Natl Acad Sci U S A 2019;116(27):13670–13679. doi: https://pubmed.ncbi.nlm.nih.gov/31213533/In this paper, Perry et al. studied several animal models to disentangle the mechanism by which leptin suppresses hunger. In rats, the hyperphagia induced by a 48 h fast, or a hypoglycemic hyperinsulinemic clamp, or uncontrolled diabetes, was completely s...