ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Genet Med. 2019 Jan;21(1):233–242.This study documented the clinical features and molecular diagnoses of 9 infants with persistent hyperinsulinism and Kabuki syndrome via a combination of sequencing and copy-number profiling methodologies.KS is characterized by typical facial features (long palpebral fissures with eversion of the lat...

Abstract: Nature. 2019 Mar;567(7747):234–238.In brief: In this article, the authors present evidence that the murine epiphyseal growth plate develops a postnatal stem cell niche with monoclonal properties, that are able to self-renew. They thereby challenge the concept of a continous depletion of progenitor cells as a limiting factor for bone growth.<p class="abste...

To read the full abstract: Proc Natl Acad Sci U S A. 2018 Nov 6;115(45):E10758–E10767.The authors show for the first time that central AMP-activated protein kinase (AMPK), the major cellular energy sensor, interplays with Kiss1 to control puberty onset.AMPK is an indispensable cellular energy sensor (1). Beside its ability to directly sense ener...

To read the full abstract: Proc Natl Acad Sci USA. 2018; 115(52): E12265–E12274.The adrenal cortex plays a central role in regulating body homeostasis through the production of glucocorticoids and mineralocorticoids that control many important physiologic functions, such as metabolism, inflammation and arterial blood pressure. The production of these hormones, known as steroid...

To read the full abstract: Nat Comm 2019; 10(1): 1718Steroid receptor coactivator (SRC)-1 mediates nuclear hormone receptors and transcription factor-dependent transcription (1), and interacts with STAT3 (2) an important mediator of leptin-induced POMC expression and hence satiety (3). Src-1 knockout mice are obese (4), however, the underlying mechanism is unclear. In a...

To read the full abstract: Proc Natl Acad Sci U S A 2017;114:E11323-E11332The mechanism of thyroid hormone (TH) action is classically attributed to thyroid hormone receptor (THR) binding to thyroid hormone responsive elements (TRE) in promotors of target genes, directly controlling gene expression in target tissues. Thus, THRs alpha (TRa) and beta (TRb) function as TH dependent transcription ...

To read the full abstract: Nat Genet. 2018; 50(3): 349-354See comment on 8.2...

To read the full abstract: Cell 2017;170:199-212 e20T2DM has a disproportionate impact on persons of Latin American descent. GWAS in Mexican and other Latin American samples identified a haplotype containing four missense SNPs, all in SLC16A11, that were much more common in individuals with Native American ancestry than in east Asian, European and African samples. The association was stronge...

In Brief: The 11th edition of the ‘Nosology’ is significantly expanded, now covering 771 conditions linked to 552 genes. In a major shift from previous editions, it has adopted a dyadic naming system that defines disorders based on both their phenotypic and genetic features. It continues to be a vital tool for diagnosing and communicating about genetic skeletal disorders.Commentary: The first Nosology of genetic skeletal disorders was published...

Brief summary: This French retrospective observational study evaluated ovarian function, premature ovarian insufficiency (POI) and spontaneous pregnancy in 178 women who had undergone hematopoietic stem cell transplantation (HSCT) for leukemia before puberty; 116/178 had received total body irradiation (TBI) and 62 had received a busulfan-based conditioning regimen.Sixty percent of women needed pubertal induction; only 40% had spontaneous menarche and ha...