ESPE Yearbook of Paediatric Endocrinology

Sci Transl Med. 2021; 13(596): eabc0555. PMID: 34078742https://pubmed.ncbi.nlm.nih.gov/34078742/Brief Summary: These in vitro and in vivo studies show that the brain penetrant PPARγ agonist leriglitazone restores multiple biological pathways relevant for neuroinflammatory and neurodegenerative diseases, and particularly for X-linked adreno-leukodystrophy (X-AL...

Brief summary: In this multicenter, open-label, parallel-group, randomized trial, 97 adolescents (aged 10–16.9 years) were randomized within 21 days after the diagnosis of type 1 diabetes (T1D) to receive either hybrid closed-loop therapy or standard insulin therapy (control) for 24 months. Although closed-loop therapy was associated with better glycemic outcomes, there were no differences in C-peptide between the two groups.The Closed Loop from Ons...

J Clin Endocrinol Metab. 2021 Mar 25;106(4):1111–1128.https://pubmed.ncbi.nlm.nih.gov/33382876/In this multicentre patient cohort study, the authors investigated the use of targeted metabolomics to discriminate primary hypertension (PHT) from endocrine forms of hypertension (EHT). They identified 16 metabolites that help to discriminate between PHT and EHT.Arteri...

To read the full abstract: Endocrinology, April 2020, 161(4):1–18The aim of this study was to examine the role of growth hormone (GH) on gut microbiome and intestinal phenotype by using two animal models characterized by an opposite GH status: GH gene-disrupted (GH-/-) mice, characterized by GH deficiency; and bovine GH transgenic (bGH) mice with chronic GH excess. The abundance of common bacterial genera, such as Parasutterella, Ruminococc...

To read the full abstract: Journal of clinical endocrinology and metabolism vol. 105,8 (2020): dgaa162. doi: https://academic.oup.com/jcem/article/105/8/dgaa162/5813981This longitudinal study (n =16) suggests that responses to kisspeptin administration could predict later pubertal outcomes for patients with delayed puberty. The management of...

Brief summary: This translational study evaluated mRNA expression of hypothalamic neuroglial markers in two transgenic mice with either enhanced or reduced consensual GH-IGF-1 signaling and in Hepatocyte-specific GH receptor (GHR) knockout male mice, with high GH circulating-levels and low IGF-1 concentrations. The study demonstrated a direct action of GH on neuroinflammation, independently of IGF-1 levels.Although the brain is not considered a classical...

Brief Summary: This study suggests that excessive interferon-γ–mediated responses have a pathogenic role in APS-1 and provides the foundation for therapies that affect interferon-γ–mediated disease.Commentary: Autoimmune polyendocrine syndrome type 1 (APS-1), also known as autoimmune polyendocrinopathy, candidiasis, and ectodermal dystrophy (APECED), is an autosomal recessive multiorgan syndrome caused by loss-of-function variants in ...

To read the full abstract: J Clin Endocrinol Metab. 2020 Feb 15. pii: dgaa078. doi: 10.1210/clinem/dgaa078. PMID: 32060556.Just another gene implicated in hypopituitarism? Yes, but it is a newish cilopathy gene in the hedgehog pathway. Hedgehog family of polypeptides (Sonic (Shh), Indian (Ihh) and desert (Dhh) hedgehog) are signaling molecules that are needed for many cellular events and pl...

To read the full abstract: American journal of human genetics vol. 106,1 (2020): 58–70. doi: https://www.sciencedirect.com/science/article/pii/S0002929719304677?via%3DihubBy performing next-generation sequencing in 240 unrelated probands with congenital hypogonadotropic hypogonadism and follow-up in multiple animal models, this study identifies ...

To read the full abstract: N Engl J Med. 2018 Aug 9;379(6):535–546.This study tested whether vitamin D supplementation from mid pregnancy to delivery or 6 months post-partum had an effect on length-for-age z scores at 1 year or on other anthropometric measures from birth to 1 year.Bangladesh is a resource poor country where approximately 30% of newbor...