ESPE Yearbook of Paediatric Endocrinology

J Nurs Res. 2019 Mar 7. DOI: 10.1097/jnr.0000000000000313• This qualitative study evaluated the physical and emotional experiences of 13 adults living with disorders of sexual development (DSD) at a tertiary care center in Nigeria.• Diagnosis of DSD is frequently delayed in LMIC resulting in development of ambiguous physical traits and features.<...

To read the full abstract: Diabetologia. 2018;61:831-838T1DM in childhood and adolescence is a high burden for patients and family members. This is reflected by research that shows an increased incidence of psychiatric disorders in this patient group. Especially depression, eating disorders and anxiety disorders seem to be more prevalent. However data are mainly from small cohorts or regional...

To read the full abstract: Obesity 2018;26(4):776-781Here, Twig et al. shed light on an important, but not well investigated facet of the complex, multi-organ system chronic disease simply termed ‘obesity’. Using the large statistical power of this impressive, nation-wide database, the authors demonstrate high hazard ratios for obesity-related kidney mortality in a relatively young cohort...

Brief summary: This ‘Letter to the Editor’ provides a critical review on how behavioural and physiological aspects of type 1 diabetes (T1D) and its management can interfere with standard principles of good quality and duration of sleep.Quality of sleep is important for general human functioning, cognitive performance, emotional well-being, as well as immune function and cardiovascular health (1). The benefits of optimal sleep apply to everyone ...

Eur J Endocrinol. 2020 Jun;182(6):P1–P15. doi: 10.1530/EJE-19-0831. PMID: 32268295.This paper describes the concerted efforts of the EU COST Action DSDNet and the European network for rare endocrine diseases Endo-ERN. A total of 33 laboratories were involved and they describe state of the art assessments of the peptide hormones: follicle-stimulating hormone (FSH), luteinizing hormone (LH)...

To read the full abstract: Eur J Endocrinol. 2020, Jun; 182: P1–p15; doi: https://eje.bioscientifica.com/downloadpdf/journals/eje/182/6/EJE-19-0831.pdfDiagnosis and monitoring of therapies for DSD patients require clinical, biochemical and genetic assessments. Biochemical analyses comprise the measurements of peptide and steroid hormones. This positi...

Diabetologia. 2020;63(4):780–787. doi: 10.1007/s00125-019-05077-4.This multicenter multinational study, in children with high genetic risk of T1D, identified an association between lower serum 25-hydroxyvitamin D (25OHD) concentrations and subsequent appearance of islet autoimmunity or T1D.The Trial to Reduce IDDM in the Genetically at Risk (TRIGR) ancillary ...

Proc Natl Acad Sci U S A. 2021 Oct 12;118(41):e2107208118. https://pubmed.ncbi.nlm.nih.gov/34611019/Brief Summary: This in vitro study explored the reactivity to preproinsulin of CD8 T cells obtained from pancreatic islets of individuals with and without type 1 diabetes (T1D). The main finding was that CD8 T cells from T1D donors were highly reactive to peptides throughout the entire prepro...

To read the full abstract: J Clin Endocrinol Metab. 2020; 105(3): dgz255. PMID: 31825489.P450 oxidoreductase deficiency (PORD) is a rare autosomal recessive variant of congenital adrenal hyperplasia (CAH) arising from homozygous or compound heterozygous mutations to the gene encoding the enzyme P450 oxidoreductase (POR ) (1). Patients with PORD have a range of skeletal malformation...

To read the full abstract: Cell. 2019;179, 1–17. doi: https://pubmed.ncbi.nlm.nih.gov/31761534/The current study demonstrates that primary cilia, which are present on all adult mesenchymal stem cells including preadipocytes, play a major role in adipogenic differentiation. Using a transgenic mouse model where all preadipocytes were devoid of cilia, they could elegantly show that cilia ...