ESPE Yearbook of Paediatric Endocrinology

Matrix Biol. 2020 Aug;90:40–60 Abstract: https://pubmed.ncbi.nlm.nih.gov/32173581/In brief: Mutations in 3-hydroxylation complex genes CRTAP and P3H1 cause osteogenesis imperfecta type VII and VIII, respectively. However, the pathogenic mechanism by which these mutations cause disease remains unclear. This study points to a defective chaperone role of the 3-h...

Sci Rep. 2020 Dec 9; 10: 21507. https://pubmed.ncbi.nlm.nih.gov/33299020/This cross-sectional study of 246 childhood acute lymphoblastic leukemia (cALL) survivors aimed to analyze the relationships between various blood biomarkers and cardiovascular risk, and to test the link between endotoxemia and cardiometabolic complications. A high leptin-adiponectin ratio was associated with obesity, ...

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...

To read the full abstract: Thyroid. 2019;29:480–492.The thyroid axis is particularly responsive to critical illness. Adaptation processes of the thyroid axis to critical illness and prolonged fasting are well described as non-thyroidal illness syndrome. Non-thyroidal illness is mainly explained by two mechanisms: 1) peripheral inactivation of T4 to rT3 by decreased type-1 deiodinase...

Brief summary: In recent years, generation of human organoids of different tissues from human embryonic stem cells have been realized, e.g. intestine, liver, and lung among others. In contrast, so far all attempts to generate fully mature and functional human thyroid follicular cells from stem cells was not successful. Romitti et al. present for the first time successful generation of transplantable and functional human thyroid organoids derived from human embryonic s...

Cell Rep. 2021 Apr 13;35(2):108981. doi: 10.1016/j.celrep.2021.108981. PMID: 33852861.Mutations in the promotor region of the insulin gene are associated with a subtype of neonatal diabetes mellitus (NDM). These mutations lead to abnormal transcription of the insulin gene and do so by deleting the C1 and E1 cis regulatory elements, or three different single base-pair substitutions in ...

BMJ. 2021 Feb 3;372:n37. doi: 10.1136/bmj.n37. PMID: 33536184This observational cohort study used data from the French administrative healthcare database during 2007–2015 to assess the risk of meningioma development related to treatment with cyproterone acetate. The cohort comprised 253,777 participants, of whom 54% had high exposure to cyproterone acetate, and 45% had low exposure.<p cla...

Hum Reprod. 2020 Oct 1;35(10):2312–2322. 10.1093/humrep/deaa185. PMID: 32862222. https://academic.oup.com/humrep/article/35/10/2312/5899242In brief: This study shows that both the GnRH stimulation test and serum inhibin B have insufficient specificity to discriminate congenital hypogonadotropic hypogonadism (CHH) from c...

J Clin Endocrinol Metab 2021; 106(3):814–825.https://pubmed.ncbi.nlm.nih.gov/33236103/Here, the authors performed a randomized, 12-week, crossover study in order to assess cortisol metabolism during dual-release hydrocortisone (DR-HC) and conventional hydrocortisone (TID-HC) therapy in patients with primary adrenal insufficiency (n=50). Healthy controls (n=124) were i...

Int J Obes (Lond). 2020 May;44(5):1185–1190. https://pubmed.ncbi.nlm.nih.gov/31776435/These authors investigated the effect of maternal and paternal obesity on gene expression level in the mouse blastocyst. Firstly, they show that female and male offspring were differentially sensitive to an obesogenic maternal environment in the early phase of preimplantation. Male blastocysts from o...