ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: J Clin Endocrinol Metab. 2020 Mar 1;105(3):dgaa037.This study aimed to assess the frequency of natriuretic peptide receptor type B gene (NPR2 ) variants in 87 children with familial short stature (FSS) and evaluate their response to GH therapy. By applying whole-exome or custom-targeted NGS panel sequencing, NPR2 variants were found in 5 children (5.7%) belonging to 4 families. These variants were cla...

To read the full abstract: Human Reproduction (Oxford, England) vol. 35, 2 (2020): 257–264. doi: https://academic.oup.com/humrep/article/35/2/257/5709207. https://pubmed.ncbi.nlm.nih.gov/31958337/This randomized controlled trial compares treatment with peroral letrozole or intramuscular low-dose testosterone in ...

To read the full abstract: Disease Models & Mechanisms vol. 13,3 dmm040105. 13 Mar. 2020. doi: https://dmm.biologists.org/content/13/3/dmm040105.longThese authors developed an in vitro model to study human GnRH neuron transcriptome during developmental differentiation. Gonadotropin-releasing hormone (GnRH) neurons in the hypothalamus govern t...

To read the full abstract: Bone Marrow Transplant. 2020 Apr 24. doi: 10.1038/s41409-020-0914-5. Epub ahead of print. a.leiper@nhs.netAnti-Müllerian hormone (AMH), secreted by granulosa cells of growing pre- and early antral ovarian follicles, reflects the reserve of primordial ovarian follicles at any time from birth to menopause. Serum AMH leve...

To read the full abstract: Pediatr Diabetes. 2020 Feb;21(1):106–111. doi: 10.1111/pedi.12936. PMID: 31618523Children with type 1 diabetes (T1DM) should be screened regularly for signs of retinopathy by fundus photography in order to prevent visual impairment. According to Danish national guidelines, screening should take place at ages 12, 15, and 18 years after a minimum of 3 years of diab...

To read the full abstract: Lancet Glob Health 2020; 8: e730–36. doi: 10.1016/S2214-109X(20)30104-2• Sustainable Development Goals (SDG) were adopted by United Nations Member States in 2015. Universal health coverage is at the centre of SDG #3 but lacks metrics that make it possible to assess how effective the provided healthcare is.• WHO and UNICEF convened a group of ...

To read the full abstract: Annals of Global Health. 2020; 86(1): 43, 1–8. doi: https://doi.org/10.5334/aogh.2669• The authors assessed the prevalence of diabetic microvascular complications in 155 children and adolescents with Type 1 diabetes in northwestern Tanzania.• They observed poor diabetes control in 69% of the patients and a high rate of diabetic nephropathy (32.9%), retin...

To read the full abstract: Science 2018;362(6416) eaau5324The hypothalamus is a highly complex region, which receives many inputs from several other brain regions and also from the periphery. It is the site of synthesis of many neuropeptides that act as neurotransmitters or via the systemic circulation (in blood). Hypothalamic nuclei are typically defined by their exact anatomical locati...

To read the full abstract: Diabetes. 2019 Apr 8. pii: db190045. doi: 10.2337/db19-0045.This study assessed the incidence of permanent neonatal diabetes mellitus (PNDM) in patients with Trisomy 21.Patients with Trisomy 21 have an increased prevalence of autoimmune conditions, such as Type 1 diabetes, celiac disease, alopecia, vitiligo and autoimmune thyroid disorder...

To read the full abstract: Science. 2018;362(6411).Here, developmental regulation of deiodinases DIO2 and DIO3 were identified as main regulators of thyroid hormone dependent sequential cone subtype specification in human retinal organoids. Either complete loss of thyroid hormone signaling or non-physiologically high thyroid hormone levels completely suppressed either medium and long wav...