ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Horm Res Paediatr. 2018;90:407–413.Temple syndrome (TS) is a rare imprinting disorder caused by the dysregulation of imprinted genes in the chromosomal region 14q32 [1]. Most cases (approximately 70–80%) are caused by maternal uniparental disomy of chromosome 14. Paternal deletions and primary imprinting defects involving chromosomal region 14q32 can ...

To read the full abstract: Endocrinology. 2019;160:1363–1376.Pregnancy-associated plasma protein A2 (PAPP-A2) is a metalloproteinase which, by cleaving IGFBP-3 and IGFBP-5, releases free IGF-I from the ternary complexes and regulates its bioavailability. PAPPA2 gene mutations (p.D643fs25* and p.Ala1033Val) have recently been described in various members of two unrelated fam...

J Clin Endocrinol Metab. 2020;105:3203–3214. doi: 10.1210/clinem/dgaa443. PMID: 32652002The authors performed a large genome-wide association study (GWAS) to assess the role of common genetic variants in the response to GH therapy. A total of 614 children treated with GH were included: 276 with idiopathic GHD, 297 with ISS, and 41 born SGA. The findings implicate some novel mechanisms...

To read the full abstract: J Pediatr. 2019 Dec;215:192–198.Identifying the diagnosis in children with syndromic short stature and those with recognized genetic growth disorders is often challenging, as they may share many clinical features (1)(2). The candidate gene approach has many limitations in unveiling the genetic cause. Therefore, whole exome sequencing (WES) has been proposed to improve the diagnostic rate in children with short sta...

Abstract Link: Nat Genet. 2019 Jan;51(1):96–105.In brief: Gain-of-function mutations altering DNMT3A are identified as a new cause of microcephalic dwarfism. Modelling of the disease in mice show that the mutations abrogate DNMT3A binding to H3K36me2 and H3K36me3 and lead to aberrant DNA methylation of Polycomb-marked regions and therefore repression ...

Am J Hum Genet. 2021 Aug 5;108(8):1526-1539. doi: 10.1016/j.ajhg.2021.06.013. PMID: 34270938.Brief Summary: This study reports splice-disruptive variants in POU1F1 in 4 families with hypopituitarism and uses a high-throughput splicing reporter assay to create a comprehensive catalogue of such variants in or near exon 2 of the gene. The catalogue paves the way for identifying synon...

To read the full abstract: Horm Res Paediatr. 2019;92:1–14In March 2019, 46 international experts from 14 countries across 5 continents attended a 3-day workshop organized by the Growth Hormone Research Society (GRS) and produced this perspective on the diagnosis, management and therapy in children with short stature. In this context, this expert panel tackled almost all aspects related to the management of children with short stature, prov...