ESPE Yearbook of Paediatric Endocrinology

Endocr J. 2021 Apr 3. doi: 10.1507/endocrj.EJ21-0050. PMID: 33814485.Mizue Fujii and colleagues retrospectively evaluated the pituitary function in 67 and 111 adult patients with Rathke’s cleft cyst (RCC) and non-functioning pituitary adenoma (NFA), respectively. The study population represented consecutive patients encountered in their institute. They found that RCCs were smaller t...

JAMA Pediatr. 2021;175(2):e205199. doi: 10.1001/jamapediatrics.2020.5199. PMID: 33346824This nationwide population-based study assessed the long-term risk of cardiovascular events in patients who had received rhGH therapy during childhood and adolescence. The study cohort comprised 3.408 subjects treated under the GHD, SGA or ISS indications, and 50 036 age-, sex-, and region-base...

Cell Metabolism 2022;34(5):667-80.e6. doi: 10.1016/j.cmet.2022.03.006Brief Summary: In preclinical models and a phase 1 trial, a powerful new lipid small molecule was shown to act through a mechanism distinct from those of known hypolipidemic agents. Targeting HNF-1α may be a new therapeutic strategy.Comment: Familial hypercholesterolemia (FH) is the most common...

Reports Medicine 2021;2(11):100446. doi: 10.1016/j.xcrm.2021.100446Brief Summary: This mouse study validated a novel, safe treatment with ANGPTL3 peptide vaccine. It was effective to improve obesity-induced dyslipidemia and fatty liver in mice, and also improved dyslipidemia and atherosclerosis in a mouse model of familial hypercholesterolemia, with no reported toxicity.<p class="abste...

To read the full abstract: Sci Rep. 2020;10(1):3078. doi: 10.1038/s41598-020-59743-4Short summary: This study describes a specific mechanism of reduced bone formation secondary to hyperglycaemia. In hyperglycaemic states, advanced glycation end products (AGEs) downregulate the highly selective magnesium transporter expression of NIPA2 in osteoblasts. This results in ma...

To read the full abstract: PLoS Med. 2019 Oct 1;16(10):e1002926. doi: 10.1371/journal.pmed.1002926.The authors analysed a huge dataset from the Chinese national programme of preconception health checks, which include measurements of fasting plasma glucose. Overall, 13.15% (n =847,737) had impaired fasting glucose and 1.18% (n =76,297 women) had diabetes, of whom only...

To read the full abstract: J Endocrinol. 2018 Jul 26.This study, using a mouse model, investigated the effects of high fat diet-induced maternal obesity on both fetal and adult offspring skeletal development.Maternal nutrition appears to influence epigenetic alterations in the offspring and to program gene expression in key metabolic pathways, such as fatty acids a...

To read the full abstract: Pharm Res. 2018 Dec 5;36(1):21.Smectite purified from bentonite clay, and laponite SD-LAP, a synthetic Smectite were fed to rodents on a high-fat diet. Over a two-week period both the engineered clay and orlistat had weight loss effects.The unanticipated discovery that clay has a unique ability to “soak up” fat droplets in the g...

To read the full abstract: Nat Commun. 2018 Jan 4;9(1):57The hypothalamic-pituitary-gonadal axis controls the onset of puberty and the acquisition of the reproductive function. A subset of neurons in the anterior hypothalamus secretes gonadotropin-releasing hormone (GnRH) which, through its pattern of release controls all aspects of reproduction throughout life. The secretory activity of GnR...

Brief Summary: Two Japanese children with Silver Russell Syndrome (SRS) are reported, one with a de novo pathogenic frameshift sequence variant (Case 1) and the other with a 3.4 MB de novo microdeletion (Case 2) in HMGA2 (High Mobility Group AT-hook 2; OMIM *600,698). Both genetic findings meet the criteria established by the ACMG/AMP1. Case 1 had 5 of 6 (no body asymmetry) and Case 2 had 4 of 6 (no prominent forehead or body asymmetry) of...