ESPE Yearbook of Paediatric Endocrinology

Nat Commun. 2021 Jan 11;12(1):256. doi: 10.1038/s41467-020-20511-7. PMID: 33431871.These authors report two Mll4 mutant mouse models that exhibited dwarfism and altered development of GHRH−neurons.Inactivating mutations in KDM6A (aka UTX) or KMT2D (aka MLL4) genes result in Kabuki syndrome (KS), whose hallmarks in...

yufang@mail.xjtu.edu.cn Front Pharmacol 2022 13:820621. doi: 10.3389/fphar.2022.820621Brief Summary: This national cross-sectional survey in Pakistan found poor availability of insulin in the public sector, even for brands manufactured by domestic companies.Access to insulin remains a major issue worldwide in low- and middl...

To read the full abstract: Thyroid. 2018;28:959–67.This observational single center study aimed to identify predictors of transient versus permanent congenital hypothyroidism in patients with thyroid gland in situ diagnosed at birth. Strengths of the study are the prospectively documented clinical, biochemical and radiological parameters, the high inclusion rate, a...

Brief Summary: This longitudinal study provides an in-depth analysis of the clinical, endocrine, and testicular ultrasound (US) patterns in Klinefelter Syndrome (KS) from infancy through puberty and into adulthood, highlighting the progression of testicular degeneration in these patients.In this study, 155 KS patients with the classical 47,XXY karyotype, aged 7 months to 55 years, were prospectively evaluated at a single referral center following a stand...

Brief Summary: This multicenter, observational study compared the treatment of diabetes and outcomes between 2 distinct refugee communities in German-speaking countries and among native children in the same countries. The use of advanced diabetes technologies, such as insulin pumps or automated insulin delivery (AID) systems, is restricted by the refugee status. Additionally, parameters such as HbA1c and body mass index (BMI) have been identified to differ by country of origin...

Clin Endocrinol (Oxf). 2021 Feb;94(2):269–276. doi: 10.1111/cen.14353. PMID: 33098093.Every clinician encounters sometimes tricky incidentalomas, i.e., non-symptom-related imaging findings that are a consequence of increased availability and resolution of radiologic imaging.This study evaluated pediatric pituitary incidentalomas (PIs). Pituitary microadenomas...

BMJ Open. 2020 Dec 24;10(12):e045335. doi: 10.1136/bmjopen-2020-045335. PMID: 33361084This BMJ review aimed to assess the accuracy of CGM devices to detect hypoglycaemia and hyperglycaemia in preterm infants. The key take home messages from the BMJ review were that the sensitivity for CGM devices to diagnose and detect hypoglycaemia in preterm infants was poor but the specificity was h...

J Appl Toxicol. 2021 Apr;41(4):572–586. doi: 10.1002/jat.4066. PMID: 329695In this study, pregnant dams were exposed to different types of organophosphate flame retardants (OPFRs) at a sensitive development period (from gestation to lactation). The offspring were fed either a high or a low-fat diet for 17 weeks and then underwent a battery of metabolic assessments. OPFR exposure did not alte...

J Pediatr Adolesc Gynecol. 2021 Apr;34(2):168–175. doi:10.1016/j.jpag.2020.11.012. PMID: 33248216The authors report the long-term outcomes of 71 patients with Complete Androgen Insensitivity Syndrome (CAIS) in the multicentre cross-sectional dsd-LIFE study. Patients were included at 14 different sites in 6 countries in Europe. This is one of the largest long-term studies on CAIS and is of interest to clinicians who manage girls and women wi...

JAMA Netw Open. 2020;3(10):e2015665. 10.1001/jamanetworkopen.2020.15665.. https://jamanetwork.com/journals/jamanetworkopen/fullarticle/2771377In brief: This Danish population-based 20-year cohort study provides strong epidemiological data supporting substantial increases in central precocious pub...