ESPE Yearbook of Paediatric Endocrinology

Horm Behav. 2020;126:104849. 10.1016/j.yhbeh.2020.104849. https://www.sciencedirect.com/science/article/abs/pii/S0018506X20301756?via%3DihubIn brief: This study used functional MRI to compare resting state functional connectivity in women who started oral contraception during puberty or ad...

jai1984yadav@gmail.com Pediatr Endocrinol Diabetes Metab 2021; 27: 266–271. doi: 10.5114/pedm.2021.109269Brief Summary: The questionnaire-based case control study found that children with classical congenital adrenal hyperplasia (CAH) in northern India reported lower quality of life (QOL), poorer sleep and increased fatigue compared to healthy...

To read the full abstract: Indian J Pediatr 2018; 85(6):440-447In 2017, the population of India was estimated at 1.28 billion. With a birth rate of 19/1000, it means that 24.4 million babies are born each year in India. More than half of the births take place at home, in particular in rural India. Assuming an incidence of 1:2500 for congenital hypothyroidism (CH), close to 10,000 babies are b...

To read the full abstract: Lancet 2017; 390(10113):2627-2642Over the past 10 years, the prevalence of Type 2 diabetes (T2DM) has increased disproportionately in Africa, South East Asia, the Middle East and the Asia Pacific region. Interestingly, although we need more studies investigating the prevalence of T2DM in Latin America, the prevalence of T2DM in youth living in these countries do...

PLoS One. 2020 Jun 26;15(6):e0234970. doi: 10.1371/journal.pone.0234970.In brief: Metabolite signatures were compared between children with normal weight, obesity, and both obesity and T2DM, by measuring 273 analytes in fasting plasma and a 24-hour urine sample. Twenty-two urine metabolites were uniquely associated with T2DM. Adolescents with T2DM have altered purine nucleoti...

To read the full abstract: J Clin Endocrinol Metab 2017; 102 (8): 2670-2677These case reports lead to an important conclusion which changes our diagnostic work-up of early-onset childhood obesity. The authors shows that thorough work-up of clinical cohorts, combined with genetic and epigenetic analyses, can define new characteristic features of known disorders. PHP1A, and surprisingly also PHP1B,...

N Engl J Med 2021; 384:252–260 https://www.nejm.org/doi/full/10.1056/NEJMoa2031054In the Yearbook, we have been following the CRISPR story since its very beginning. Last year, Emmanuelle Charpentier and Jennifer Doudna were awarded the Nobel Prize in Chemistry for discovering the CRISPR-Cas9 gene editing tool. Here, scientists have published the first successful treatment (as...

To read the full abstract: J Clin Invest. 2020;130:1479–1490.This detailed genetic and molecular analysis of a three-generation family reveals a new form of autosomal dominant tumor susceptibility syndrome entitled familial multinodular goiter (MNG) with schwannomatosis. Biallelic alterations of the DGCR8 gene were found in all affected patients: First, all patients harbored the same heterozygous germline mutation p.E518K. Secondly...

To read the full abstract: Mol Metab. 2017 Oct; 6(10): 1321–1329See comment on 11.7...

To read the full abstract: Nat Med 2018, May;24(5):551-555[Comments on 1.1, 1.5, 1.6 and 1.7] All four here presented articles have monogenic obesity as their theme. While patients with monogenic obesity are rare, these individuals bear a heavy disease burden. Furthermore, these...