ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Best Pract Res Clin Endocrinol Metab. 2020:101418. PMID: 32414619.Cushing’s syndrome (CS) is the constellation of signs and symptoms resulting from excessive exposure to cortisol (1). While exogenous CS is relatively common, endogenous CS accounts for only 2.3 to 3.2 new cases per million per year; 10% of these present in children (2–4). Endogenous CS is...

Brief summary: This study analyzed cross-sectional data on almost 5,000 adolescents from the Adolescent Brain Cognitive Development (ABCD) cohort data (https://abcdstudy.org/), including resting state functional MRI, structural MRI and neurocognitive task scores. Excess BMI in young adolescents was associated with profound aberrant topological alterations in maturating functional circuits, as well as with underdeveloped brain structures that may adversely impact cogni...

AIMS Public Health 2020; 7(2): 380–392. doi: 10.3934/publichealth.2020032– Pakistan has a significantly higher prevalence of stunted children under 5 years old compared with other countries of the same income level. Stunting is more frequent in children of shorter compared to taller mothers– The authors hypothesized that higher maternal education, a modifiable factor, i...

To read the full abstract: Pediatr Diabetes. 2020;21(3):456–459.For many years, infections have been thought to trigger the onset of type 1 diabetes (T1DM) or even to be one of the causes of autoimmune processes that eventually lead to the destruction of the pancreatic beta-cell. In particular, maternal rubella virus infections during pregnancy are reported to increase the risk of T1DM in children, and fetal rubella infection leads to highe...

Brief summary: This study investigates metabotyping using steroid profiles, obtained with GC–MS, as a method to monitor the treatment in children with classical congenital adrenal hyperplasia.The aim of treatment in classic congenital adrenal hyperplasia (CAH) is to provide adequate glucocorticoid substitution to prevent adrenal crises and to suppress the excess adrenal androgen production. However, in clinical practice this is often difficult, and ...

Journal of Clinical Endocrinology and Metabolism. 2018; 103(6): 2403–7.URL: http://www.ncbi.nlm.nih.gov/pubmed/29659879Summary: Orlistat therapy reduced serum triglycerides by 50–60% in two children with Type 1 hyperlipoproteinemia (T1HLP) in a randomized, open-label, crossover trial with four periods and two sequences. The treatment was safe and is suggested as fir...

J Clin Endocrinol Metab. 2020 Jun 1;105(6):dgaa131. doi: 10.1210/clinem/dgaa131. PMID: 32170311Genetic control of height has been widely explored using genome-wide association studies (GWAS) in multi-ethnic populations (1-4). Although familial short stature (FSS) is the most common type of short stature, its genetic profile and impact on bone metabolism remains to be investigated. This GWAS...

To read the full abstract: Diabetes Care 2017;40:1082-1089Transcription factor 7-like 2 (TCF7L2) is a protein encoded by the TCF7L2 gene located on chromosome 10q25.2-q25.3 and is involved in the development of a wide variety of cell lineages and organs. The rs7903146 <a href="https://en.wikipedia.org...

Thyroid. 2020;30:1831–1833. doi: 10.1089/thy.2020.0293.Every year, we report on new genes that have been associated with congenital hypothyroidism. But it is the first time in all these years that, following the first description, other groups from different continents confirm the first reports in independent cohorts in such a short time after publication.This is ...

Nat Rev Endocrinol. 2022; 18(7): 399-412. PMID: 35411072https://pubmed.ncbi.nlm.nih.gov/35411072/Brief Summary: This review summarizes the current knowledge and understanding of the genetics of autoimmune Addison disease and its position in the wider field of autoimmune disorders.Autoimmune Addison’s disease (AAD) is caused by the destruction of the adrenal cortex...