ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Science. 2017 Aug 18;357(6352):717-720See comment on 6.13...

To read the full abstract: Thyroid. 2019;29:595–606.Here, ultrastructural analysis of primary cilia in human thyroid follicles revealed a direct relationship between frequency and length of primary cilia and the functional state of the individual follicle in normal compared to hyperfunctioning thyroid tissues.Primary cilia are present in many different tissues...

Clin Transl Med. 2021 Jan;11(1):e265. Abstract: https://pubmed-ncbi-nlm-nih-gov.proxy.kib.ki.se/33463067/In brief: In order to explore safety, efficacy, and feasibility of repeated infusions of mesenchymal stem cells (MSCs) as a treatment for OI, two pediatric OI patients were treated with repeated infusions of HLA-matched MSCs. The patients tolerated the treatment well and ...

Environ Health Perspect.2021 Aug;129(8):87003. doi: 10.1289/EHP8795. Epub 2021 Aug 12. PMID: 34383603. https://ehp.niehs.nih.gov/doi/10.1289/EHP8795?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub%20%200pubmedBrief Summary: Using a rode...

To read the full abstract: JAMA Pediatr. 2019 Aug 5;173(10):e192430. doi: 10.1001/jamapediatrics.2019.2430.The authors systematically reviewed published evidence on the prevalence of overweight and obesity in children aged 2–13 years. Based on data on 477 620 children from 28 European countries, they conclude that the prevalence is very high but appears to have stabilized in ...

Brief summary: This study summarises the involvement of specific miRNAs in diabetes mellitus, thyroid diseases, osteoporosis, pituitary tumours, Cushing’s disease, adrenal insufficiency and multiple endocrine neoplasia’s. Furthermore, the potential of miRNA as candidates for developing novel diagnostic and therapeutic tools is also discussed.Endocrine disorders are common worldwide and represent a considerable public health problem due to long ...

Orphanet J Rare Dis. 2021 Dec 23;16(1):522.Abstract: https://pubmed-ncbi-nlm-nih-gov/34949201/In Brief: Based on over 37,000 length/height, weight and head circumference measures from 1374 patients with achondroplasia in the USA, updated length/height-for-age, weight-for-age, head circumference-for-age (HC) and weight-for-height curves were generated for children up to 18 years of age (HC u...

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: Front Endocrinol (Lausanne). 2018 Apr 4;9:142Here, Martinez de LaPiscina et.al. investigated gene-gene interactions in 46,XY DSD. GATA4 is known to be associated with 46,XY DSD and has also been described to cause congenital heart defects. The authors characterize 3 individuals with 46,XY DSD, and GATA4 variants; 1 patient with and 2 without congenital heart defects....

Brief summary: This review article offers an update on knowledge on prophylactic gonadectomy in differences of sex development (DSDs) and evaluates the latest existing clinical evidence, which is generally limited, on risk of gonadal neoplasia potential in each group of DSDs.On average 15% of DSD patients with Y chromosome material predispose to gonadal neoplasms especially gonadal germ cell tumors (GGCTs); the overall risk ranges between 0.8% and 40% de...