ESPE Yearbook of Paediatric Endocrinology

Brief summary: This long-term longitudinal study of 437 Danish girls shows that AMH level measured in infancy is a useful tool to predict future ovarian activity.Anti-Müllerian hormone (AMH) is produced by granulosa cells in small ovarian follicles and thus reflects the ovarian reserve of resting primordial follicles (1). High AMH concentrations are observed in women with polycystic ovarian syndrome (PCOS) (2), while low age-specific AMH could be as...

J Bone Miner Res. 2021 Feb;36(2):369–384 Abstract: https://pubmed.ncbi.nlm.nih.gov/33180356/In brief: Chondrocyte-specific ablation of the mechano-sensory Piezo1 results in substantially impaired formation of secondary spongiosa during endochondral bone formation. The study explores this unexpected finding and show that mechano-sensing in growth plate chondrocytes directly reg...

To read the full abstract: Int J Obes (Lond). 2018 Feb 27.See comment on 11.7...

Brief summary: The authors provide the first description of antagonistic hormone mutations as the cause of congenital disease in humans. The paper describes detailed characterizations of two novel, antagonistic leptin mutations underlying a formerly unrecognized form of congenital leptin dysfunction and delineate the challenges these mutations pose to the diagnosis and therapy of the disease.After the initial description of biologically inactive leptin v...

Nature Metabolism. 2020;2(2):192–209. doi: 10.1038/s42255-020-0171-3.This experimental mouse study examined whether or not dedifferentiated β cells could be reversed or targeted by pharmacological intervention for diabetes remission. They identified evidence for β-cell dedifferentiation and dysfunction which could be reversed by single and combined pharmacological approach...

To read the full abstract: Genet Med. 2019 Jan;21(1):233–242.This study documented the clinical features and molecular diagnoses of 9 infants with persistent hyperinsulinism and Kabuki syndrome via a combination of sequencing and copy-number profiling methodologies.KS is characterized by typical facial features (long palpebral fissures with eversion of the lat...

To read the full abstract: Nature. 2019 May;569(7756):409–412.A Denisovan mandible, identified by ancient protein analysis, was found on the Tibetan Plateau. It is at least 160,000 years old and provides direct evidence of the Denisovans outside Siberia.The enigma of the archaic Denisovan started in 2010 when a fraction of a finger was discovered in the D...

To read the full abstract: Hum Mutat 2017 Apr;38(4):409-425See Comment under 2.10...

To read the full abstract: Science 2018;359:1376-1383The metabolic syndrome (MetS) is associated with dysfunctions of the intestinal barrier, leading to increased permeability and translocation of microbial molecules into the intestinal lamina propria and to circulation. The entry of pathogens through an impaired barrier leads to an increased risk of infection, as well as to chronic inflammation...

Brief Summary: This study explored the relationship between Somatostatin Receptor 2 (SSTR2) immunoreactivity and succinate dehydrogenase complex iron sulfur subunit B (SDHB) immunoreactivity, mutational status, and clinical behavior of paragangliomas (PPGLs), and evaluated SSTR-based therapies in metastatic PPGLs. The findings highlight SSTR2 expression as a novel biomarker for metastatic behavior in PCC, PGL and SDHB/ SDHx mutations. They also suggest that SSTR-based therapie...