ESPE Yearbook of Paediatric Endocrinology

Brief Summary: This case-control study compared resting-state functional connectivity (rs-fc) of the brain between patients with autoimmune Addison’s disease (AAD) and healthy controls. The results suggest that AAD affects the baseline functional organization of the brain and that current treatment strategies of AAD may be a risk factor.Comment: Autoimmune Addison disease (AAD) is a form of primary adrenal insufficiency (PAI), in which autoimmune ad...

Brief Summary: This retrospective study analyzed data from real-world users of the MiniMed™ 780G System. Hybrid closed-loop algorithms have proven to be successful in achieving glycemic goals in people with diabetes. This performance has been consistently observed in various age groups and geographic areas.After the introduction of the first commercial automated insulin systems in 2016, the number and variety of these devices expanded rapidly (1). T...

Cardiovasc Diabetol. 2020 Oct 6;19(1):168. 10.1186/s12933-020-01143-z. PMID: 33023586.In brief: The impact of immigration on the risk of early-onset T2DM (before age 40 years) was assessed in a nationwide cohort. Data on 93 806 native Israelis and 27 684 Israelis of Ethiopian origin, assessed at a mean age 17.5 years, were linked to the Israeli National Diabetes Registry. After adjustment fo...

J Clin Endocrinol Metab. 2022; 107(1): 150-166. PMID: 34487152https://pubmed.ncbi.nlm.nih.gov/34487152/Brief Summary: This translational study determined the persistent visceral adipose tissue (VAT) transcriptomic alterations and epigenetic fingerprints induced by chronic hypercortisolism in patients with Cushing’s syndrome (CS) and in a reversible CS mouse model....

achim.kramer@charite.de Diabetes 2021;70:1985–1999http://www.ncbi.nlm.nih.gov/pubmed/34226282Brief Summary: This study analyzed gene expression in subcutaneous adipose tissue samples of adults with obesity collected before and after the hyperinsulinemic–euglycemic clamp or control saline infusion. They demonstrate that insulin regulat...

J Clin Endocrinol Metab. 2018 Dec 1;103(12):4617–4627.doi: 10.1210/jc.2018-00052. PMID: 30124873This study shows for the first time that epigenetic changes in the androgen receptor gene (AR) proximal promoter region may underlie a clinical phenotype of Androgen Insensitivity Syndrome (AIS) in individuals in whom no DNA sequence mutation in AR or ...

N Engl J Med. 2018 Sep 13;379(11):1042–1049.doi: 10.1056/NEJMoa1800024. PMID: 30207912This case report describes two sisters with 46,XX karyotype and hypergonadotropic hypogonadism – i.e. ovarian dysgenesis. They had normal general development and normal cognition. With estrogen replacement they developed normal sex characteristics and reached their target he...

To read the full abstract: Nature Communications, 2019; 10 (1); 662This paper highlights the brain as a key target for growth hormone (GH) signaling affecting mostly energy conservation. To identify GH response neurons, C57BL/6 mice received intraperitoneal injection of saline or GH and their brains were processed to detect the phosphorylation of pSTAT5 as a marker of GH receptor a...

To read the full abstract: JAMA Pediatr 2018;172(7):646-654Vitamin D deficiency in infants can lead to impaired bone mineralization and rickets. Since the 1920s, vitamin D has been used to prevent and treat rickets, but the optimal supplementation dose for bone health was unclear. Similarly, potential extra-skeletal benefits of vitamin D in childhood have been inadequately explored. Ac...

J Clin Endocrinol Metab. 2020 Oct 1;105(10):3243–3249 Abstract: https://pubmed.ncbi.nlm.nih.gov/32721016/In brief: X-linked hypophosphatemia (XLH) is the most common hereditary form of rickets and osteomalacia. The study used retrospective, pre-burosumab growth data from four different studies and constructed growth charts that demonstrate that the growth rate of children with...