ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Clin Endocrinol (Oxf). 2020; 92(1): 11–20. PMID: 31610036.Primary adrenal insufficiency (PAI) is a relatively rare but potentially life?threatening condition that requires urgent diagnosis and treatment (1). Although the most common causes are congenital adrenal hyperplasia (CAH) in childhood and autoimmune adrenal insufficiency in adolescenc...

To read the full abstract: Pediatr Blood Cancer. 2020 Mar;67(3):e28106. ebrignardello@cittadellasalute.to.itPremature aging has been proposed as a paradigm to explain the early cardiovascular disease (CVD) that affects young-adult childhood cancer survivors (CCS). Protein glycation is recognized as one of the main factors contributing to aging. Advanced glycation end products (AGEs) are a...

To read the full abstract: Pediatrics. 2019;143(5).This randomized prospective long-term study investigated the effect of long-term (8–10 years) versus short-term (18–24 months) methimazole therapy for Graves’ disease in 56 Iranian adolescents. The primary endpoint was disease remission at 48 months after stopping methimazole.The authors obs...

Brief summary: Giannini et al. report a timely study on the impact of COVID-19 restrictions on glucose metabolism in children and adolescents with obesity and overweight. They compared data from 741 children over a 13-year period, before and during the COVID-19 pandemic. They found that children in the COVID-19 restriction group did not have significantly increased values of Body Mass Index (BMI), but they did exhibit higher values of Waist Circumference (WC), Waist/H...

Arch Dis Child Fetal Neonatal Ed. 2021 Apr 16. Epub ahead of print. doi: 10.1136/archdischild-2020-319926. PMID: 33863775.This observational study highlights the potential detrimental long-term effects of neonatal hyperglycaemia on neurodevelopmental outcomes in extremely preterm infants, while the benefit of insulin treatment remains unclear.Hyperglycaemia ...

Nat Rev Endocrinol. 2021 Feb;17(2):114–129. doi: 10.1038/s41574-020-00437-2. PMID: 33247226.We highly recommend this comprehensive review by Prodam et al. to everyone as a starter to this chapter. How many of you knew that hypopituitarism in humans was first described just over 100 hundred years ago? The authors of this excellent review divide the causes of hypopituitarism...

Horm Res Paediatr. 2021;94(11-12):456-466. PMID: 35086092Brief Summary: This study reports 2 girls with a complex phenotype associated with severe short stature and IUGR who were diagnosed with a de novo 17p13. 3 deletion by array-CGH. The deletion involved the CRK gene that transcribes for Crk protein, a component of GH and IGF-I receptor signaling pathways. In vitro assay confirmed defective CRK expression and GH/IGF1 signali...

To read the full abstract: Diabetes Care. 2020 Apr;43(4):906–908. doi: 10.2337/dc19-2126. Epub 2020 Jan 23. PMID: 31974101Antenatal corticosteroid administration prior to planned cesarean section in early labour reduces by >50% the risk of admission to the neonatal intensive care unit for respiratory distress syndrome and transient tachypnea of the newborn. However, among pregnant women wit...

To read the full abstract: Thyroid. 2020;30:277–289.GLIS3 gene mutations are associated with a syndrome that combines neonatal diabetes and congenital hypothyroidism due to thyroid dysgenesis [1]. Glis3 knockout mouse models showed functional deficits of thyroid hormone synthesis but were not able to shed light on the role of Glis3 during thyroid organogenesis resulting in thyroid dysgenesis. Rurale et al.</em...

To read the full abstract: J Bone Miner Res. 2019 Dec;34(12):2198–2204.In brief: In Osteogenesis imperfecta (OI), intravenous (IV) cyclical bisphosphonates are often discontinued after cessation of growth in adolescents. This study showed that, four years after discontinuation of treatment, none of the patients sustained new vertebral compression fractures, and the proportion ...