ESPE Yearbook of Paediatric Endocrinology

Int. J. Neonatal Screen 2020; 6: 76. doi: 10.3390/ijns6040076– CLAN (Caring and Living as Neighbours) is an Australian non-governmental organisation (NGO) committed to a rights-based approach to optimizing quality of life for children and young people living with CAH and other chronic health conditions in resource-limited settings– This paper used exploratory case study as a method t...

Hum Mol Genet. 2022 May 10:ddac093. doi: 10.1093/hmg/ddac093. Online ahead of print. PMID: 35535691Brief Summary: This genome-wide association study (GWAS) of patients with thyroid dysgenesis identified a genetic risk locus for thyroid athyreosis and ectopy. In depth genetic analyses of the disease associated region suggested a new disease mechanism of thyroid dysgenesis mediated by impaired Wnt ...

Nutrients. 2021 Oct 14;13(10):3590. PMID: 34684591Brief Summary: This multi-center, prospective, randomized, double-blind study reports the effects of two different oral nutritional supplements (ONS) on growth in ‘picky eaters’ children at risk of malnutrition in India. Anthropometric measures (weight, height, weight-for-height, body mass index (BMI), and mid-upper-arm circumference were evaluated at day 1, 30, 60 and 90. Both types of...

J Clin Endocrinol Metab. 2021;106(11):e4716-e4733. PMID: 34136918Brief Summary: In this study, 149 children referred for suspected GH insensitivity (GHI) and short stature underwent genetic characterization through different techniques, including whole exome sequencing, targeted gene sequencing and array comparative genomic hybridization (array-CGH). Genetic alterations were identified in 80/149 subjects (54%), of which 45 were affected by GH&#1...

Mol Cell Endocrinol. 2022 Apr 15;546:111570. PMID: 35051551, doi: 10.1016/j.mce.2022.111570. Brief Summary: This report emphasizes the importance of screening for copy number variants (CNVs) using parallel genomic techniques for diagnosing unsolved cases of complete androgen insensitivity syndrome (CAIS) as well as other DSDs, where traditional sequencing techniques fail to detect a genetic...

klaus.mueller@regionh.dk Transplant Cell Ther. 2021 Sep;27(9): 778.e1-778.e8. PMID: 34091072.Brief Summary: Several studies in cancer survivors have reported an increased prevalence of metabolic syndrome (MetS), which is often observed in the absence of overt obesity. Data about MetS in survivors of pediatric hematopoietic stem cell transplantation (HSCT) are scarce. This cross-sectional cohort study...

s.molinari3@campus.unimib.it Eur J Endocrinol. 2021; 185: 717-728. PMID: 34519276.Brief Summary: This retrospective study, involving two Italian centers, enrolled post-pubertal female patients who had been treated with gonadotoxic therapies for hematological malignancies and/or hematopoietic stem cell transplantation (HSCT) before the age of 18 years. Several studies have r...

T1DI Study Group. Nat Commun. 2022 Mar 21;13(1):1514. https://pubmed.ncbi.nlm.nih.gov/35314671/Brief Summary: This study of 5 birth cohorts of individuals at high risk for type 1 diabetes (T1D) used machine learning methods to explore trajectories from autoantibodies appearance to T1D progression. They identified 11 distinct latent health states and individuals progressed according to one o...

Cell Rep Med 2022;3:100598. https://pubmed.ncbi.nlm.nih.gov/35492248/Brief Summary: This study used a combination of mice models and cultured human islets to show that a glucagon-like peptide-1 (GLP-1) and estrogen (E2) dual agonist (GLP1-E2) provides superior protection from insulin-deficient diabetes compared to GLP-1 and E2 monoagonists. Pancreatic islet protection...

patricia.iozzo@ifc.cnr.it Int J Obes (Lond) 2022, 46(1):50–58. doi: 10.1038/s41366-021-00941-zBrief Summary: This experimental study was conducted with fa/fa rats that have a homozygous defect in the leptin receptor and therefore severe leptin resistance. The animals develop extreme obesity, diabetes and metabolic syndrome. The study of y...