ESPE Yearbook of Paediatric Endocrinology

J Clin Endocrinol Metab. 2020;105(2):dgaa465. doi: 10.1210/clinem/dgaa465. PMID: 32685970This study aimed to identify potential (epi)genetic causes of short stature in 20 SGA children (13 boys; 7 girls) treated with rhGH. Exome sequencing, single-nucleotide polymorphism (SNP) array (both performed in the whole cohort) and genome-wide methylation analysis (performed in a random subset of 10 ...

Program Collaborators for Environmental Influences on Child Health OutcomesJAMA Netw Open. 2022 Feb 1;5(2):e2146873. doi: 10.1001/jamanetworkopen.2021.46873. PMID: 35119461https://jamanetwork.com/journals/jamanetworkopen/fullarticle/2788643/Brief Summary: This study describes the correlation between...

Brief summary: Growth Hormone (GH)-Insulin-Growth-Factor-1 (IGF-1) axis plays the major role in promoting growth, but novel factors seem to modulate GH-IGF1 axis functioning. The majority of circulating IGF-1 and IGF-2 are bound to IGF-binding proteins (IGF-BPs) which prolong their half-life and regulate their tissue distribution (1,2). Pappalysins (PAPP-A, PAPP-A2) increase IGF-1 bioavailability through cleavage of IGFBPs and are inhibited by stanniocalcins (STC1, STC2) (3,4)...

Brief summary: The incidences of T1D and T2D in children and young people increased in the USA over the last 2 decades. For the first time, the incidence of T2D has surpassed that of T1D.Comment: The SEARCH study has served as a national resource to explore the epidemiology and consequences of diabetes in the US. Published over the years, the findings contribute to understanding future trends in other parts of the world. Overall, the current report shows...

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...

To read the full abstract: Sci Rep. 2019 Jun 13;9(1):7727As outlined in paper 10.1, intrauterine and early neonatal infections with a number of viruses are thought to contribute to the incidence of type 1 diabetes (T1DM) later in life. Amongst the viruses to be considered, enteroviruses have been found to be the most important. It is therefore important to know whether vaccination against enteroviruses would reduce the incidence of autoimmune di...

Anthropol Anz. 2018 Jun 11;74(5):365–376. DOI: 10.1127/anthranz/2018/0828• This literature review evaluated the phenomenon of faster growth, earlier maturation and often taller adult height in migrant youth as compared to their non-migrant relatives.• The authors propose a new framework to understand growth regulation and determinants of adult heigh...

Brief summary: In this large registry-based study, including 32 117 children and young people (aged 1.5–25 years) with type 1 diabetes (T1D), the use of continuous glucose monitoring (CGM) was associated with decreased rates of diabetic ketoacidosis (DKA) and severe hypoglycemia. Of interest, some CGM metrics predicted risk for these complications.CGM systems are now widely used by children with T1D, and there is evidence both from clinical trials a...

To read the full abstract: American journal of human genetics vol. 106,1 (2020): 58–70. doi: https://www.sciencedirect.com/science/article/pii/S0002929719304677?via%3DihubBy performing next-generation sequencing in 240 unrelated probands with congenital hypogonadotropic hypogonadism and follow-up in multiple animal models, this study identifies ...

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...