ESPE Yearbook of Paediatric Endocrinology

J Clin Endocrinol Metab. 2021;106(11):e4716-e4733. PMID: 34136918Brief Summary: In this study, 149 children referred for suspected GH insensitivity (GHI) and short stature underwent genetic characterization through different techniques, including whole exome sequencing, targeted gene sequencing and array comparative genomic hybridization (array-CGH). Genetic alterations were identified in 80/149 subjects (54%), of which 45 were affected by GH&#1...

Cell Rep Med 2022;3:100598. https://pubmed.ncbi.nlm.nih.gov/35492248/Brief Summary: This study used a combination of mice models and cultured human islets to show that a glucagon-like peptide-1 (GLP-1) and estrogen (E2) dual agonist (GLP1-E2) provides superior protection from insulin-deficient diabetes compared to GLP-1 and E2 monoagonists. Pancreatic islet protection...

t.palmer@ucl.ac.uk Pediatr Diabetes 2022; 23:19–32. doi: 10.1111/pedi.13277Brief Summary: The Changing Diabetes in Children (CDiC) program successfully established a stable supply of free insulin in implementing facilities for children living in Kenya and Bangladesh. However, the program also has limitations, including concerns over its sustainability.<...

To read the full abstract: Nature. 2020;578:627–630.In this extensive work, Coscia et al. determined the molecular architecture of the full-length human thyroglobulin (TG) at high resolution by cryo-electron microscopy and identified the four hormonogenic tyrosine residues which act either as mono- or di-iodotyrosine acceptor and donor sites (A-D) and allow the ultimate step of thyroid hormone synthesis – coupling of two di- o...

To read the full abstract: J Pediatr Hematol Oncol. 2020;10.1097/MPH.0000000000001766. doi:10.1097/MPH.0000000000001766 [published online ahead of print, 2020 Feb 28]. taftkamalden@um.edu.myChildhood cancer survivors (CCS) have a markedly increased incidence of early cardiovascular disease (CVD). Changes in retinal vessel diameter are associa...

To read the full abstract: Lancet Child Adolesc Health. 2020;4(3):210–19. PMID 31978372.In this non-randomized matched-control study, 81 obese adolescents undergoing Roux-en-Y gastric bypass surgery (RYGB) who participated in the Adolescent Morbid Obesity Surgery (AMOS) study (11) were compared with 80 obese controls from the Swedish Childhood Obesity Treatment Register (BORIS) who rec...

To read the full abstract: Lancet Glob Health 2020; 8: e730–36. doi: 10.1016/S2214-109X(20)30104-2• Sustainable Development Goals (SDG) were adopted by United Nations Member States in 2015. Universal health coverage is at the centre of SDG #3 but lacks metrics that make it possible to assess how effective the provided healthcare is.• WHO and UNICEF convened a group of ...

To read the full abstract: Trans Vis Sci Tech. 2019; 8(3):29. doi: 10.1167/tvst.8.3.29• This study investigates the feasibility of acquiring diagnostic quality fundus photographs in children using a child-friendly smartphone.• Photographs were acquired in 43 patients (mean age 6.7 years) with i.e. retinoblastoma, Coats’ disease, commotio retinae and optic nerve hypoplasia.•...

To read the full abstract: Horm Res Paediatr: 2018;89(6):413–422.This study examined the clinical and molecular aspects of girls with Turner syndrome and hyperinsulinaemic hypoglycemia (HH). Records of girls with hyperinsulinism and Turner syndrome were reviewed.The findings expand on previous observations suggesting a link between Turner syndrome and hyperins...

To read the full abstract: J Clin Endocrinol Metab. 2019; pii: jc.2019–00563.Primary aldosteronism (PA) is one of the most common causes of secondary hypertension, affecting ~6% of the adult general hypertensive population. Patients with PA are at increased risk of cerebrovascular and cardiovascular morbidity, renal abnormalities and metabolic syndrome. The activity of mTORC1 ...