ESPE Yearbook of Paediatric Endocrinology

Diabetes Metab Syndr. 2020;14(5):1213–1216. doi: 10.1016/j.dsx.2020.07.016In this small cross-sectional study on 52 pediactric patients with T1D, a structured questionnaire was administered on follow up within 15 days after lockdown during the COVID-19 pandemic. Of these 52 patients, 36.5% had hyperglycemic and 15.3% had hypoglycemic episodes. Insulin dose was missed in 26.9%, gluco...

Pediatr Diabetes. 2021;1–7. doi: 10.1111/pedi.13191– The development of an awareness campaign and of a prospective registry in Mali enabled the collection of more accurate data on the incidence, prevalence and mortality of Type 1 diabetes (T1D) in children and youth <25 years– T1D incidence rose from 0.12 in 2007 to 0.74 in 2016 and T1D prevalence from 0.43 in 2007 to 2.90 in...

J Clin Res Pediatr Endocrinol 2020 Dec 30.doi: 10.4274/jcrpe.galenos.2020.2020.0216– The characteristics of 44 patients with 46,XX congenital adrenal hyperplasia (CAH) who were raised as males were described– 15/44 (34%) were diagnosed before 2 years of age– The median final height was 149.2 (range 133–172) cmThis paper discusses an important ...

Stem Cell Res. 2021 Jul;54:102433. doi: 10.1016/j.scr.2021.102433. PMID: 34171785.Brief Summary: This study generated induced pluripotent stem cells (iPSCs) from a patient with permanent neonatal diabetes mellitus (PNDM) due to Fanconi-Bickel syndrome. This iPSC line provides a novel human cell model to understand the pathophysiology of FBS and diabetes mellitus and for the potential of dev...

Horm Res Paediatr. 2021;94(11-12):456-466. PMID: 35086092Brief Summary: This study reports 2 girls with a complex phenotype associated with severe short stature and IUGR who were diagnosed with a de novo 17p13. 3 deletion by array-CGH. The deletion involved the CRK gene that transcribes for Crk protein, a component of GH and IGF-I receptor signaling pathways. In vitro assay confirmed defective CRK expression and GH/IGF1 signali...

Transl Psychiatry. 2022; 12(1): 132. PMID: 35354798https://pubmed.ncbi.nlm.nih.gov/35354798/Brief Summary: This case control study identified widespread effects of fetal exposure to antenatal maternal glucocorticoid treatment on newborn bloodspot DNA methylation profiles.Antenatal treatment with glucocorticoids (AGC), such as betamethasone or dexamethasone, is widely u...

Journal of the American Heart Association 2021;10(24):e021701. doi: 10.1161/JAHA.121.021701Brief Summary: This population-based birth cohort study identified an association between childhood abuse and higher BMI at age 18 and 25 years, and also hyperinsulinemia and other markers of the MetS at age 25.Comment: Previous studies reported that about one-third of adult candi...

shenali.amaratunga@fnmotol.cz Horm Res Paediatr 2022; 95:1–11. doi: 10.1159/000521210Brief Summary: This review highlights the value of consanguinity in the discovery of novel genes for three endocrine conditions with increasing pathophysiological complexity: congenital hyperinsulinism, monogenic diabetes and short stature.<p class="abstex...

To read the full abstract: Nat Rev Endocrinol 2020 May 6. doi: 10.1038/s41574-020-0351-y. [Epub ahead of print]. PMID:32376986ATP-sensitive potassium (KATP) channels are composed of a pore-forming Kir6.2 potassium channel and a regulatory ABC transporter sulfonylurea receptor 1 (SUR1). This channel has a hetero-octameric structure compromising of four SUR1 subunits and four Ki...

To read the full abstract: J Clin Endocrinol Metab. 2020; 105(3): dgaa016. PMID: 31927590.Classical congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency requires life-long glucocorticoid (GC) replacement therapy. Previous studies on general cognitive ability in patients with CAH have been conflicting, and the majority focused on intelligence in adult patients. Some studies h...