ESPE Yearbook of Paediatric Endocrinology

J Clin Endocrinol Metab. 2021, 106(10):e4142-e4154. doi: 10.1210/clinem/dgab352. PMID: 33999151.Brief Summary: The authors show that patients with hypopituitarism and FOXA2 gene defects also need screening for dysfunction of the pancreas.The Forkhead box A2 transcription factor (FOXA2) is important for normal development of the central nervous system, i...

Thyroid. 2022 May;32(5):496-504. doi: 10.1089/thy.2021.0685. Epub 2022 Mar 31. PMID: 35199588Brief Summary: This retrospective monocenter case-control study assessed levothyroxine requirements to achieve euthyroidism defined as two consecutive normal TSH measurements (0.3-4.7 mIU/L) separated by ≥ 6 weeks in adult patients with immune checkpoint inhibitor (ICI) associated permanent hypoth...

NPJ Genom Med. 2021 Dec 20;6(1):107. doi: 10.1038/s41525-021-00274-w. PMID: 34930920https://www.nature.com/articles/s41525-021-00274-wBrief Summary: This cross-sectional study describes the genetic data of a cohort of patients with self-limited delayed puberty, finding a high prevalence of CCDC141 gene mutations. Usi...

Eur J Endocrinol. 2021 Oct 8;185(5):617-627. doi: 10.1530/EJE-21-0387. PMID: 34403359. https://eje.bioscientifica.com/view/journals/eje/185/5/EJE-21-0387.xmlBrief Summary: This study investigates the role of Whole Exome Sequencing in the differential diagnosis of delayed puberty, evaluating a geno...

Pediatr Res. 2021; 92(1):265-274. doi: 10.1038/s41390-021-01739-5. PMID: 34556810https://pubmed.ncbi.nlm.nih.gov/34556810/Brief Summary: This study provides a detailed set of normative reference values for steroidogenesis during the first 6 months of life, which may facilitate rapid testing of infants for steroidogenic disorders.<p...

To read the full abstract: J Clin Endocrinol Metab ;105(4):e1847–e1861.The REAL 3 multicenter randomized, controlled, double-blind phase 2 study evaluated the efficacy and safety of different doses of once-weekly Somapacitan, compared to conventional once-daily GH in 59 prepubertal GHD children. The treatment period lasted 26 weeks and an additional extension to 52 weeks. At week 26, height velocity (HV) was 7.8, 10.9 and 13.1 cm/year, resp...

To read the full abstract: J Clin Endocrinol Metab. 2019; 104(7): 2985–2993. PMID: 30844071.Endogenous Cushing syndrome (CS) is a severe condition characterized by excessive glucocorticoid production (1). In 20% of cases, cortisol is secreted autonomously by the adrenal cortex (2). Adrenal CS is mostly caused by unilateral cortisol-producing adrenal ad...

To read the full abstract: Support Care Cancer. 2020 Feb 11. Epub ahead of print. hess2@phoenixchildrens.comThe development of a second neoplasia is a major concern during the follow-up of childhood cancer survivors (CCS). Secondary cancers account for nearly 50% of non-relapse mortality at 5 years. Thyroid tumours represent 10-20% of subsequent neoplasia cases, due to the high sensitivity of the g...

To read the full abstract: J Clin Endocrinol Metab. 2019;104:3287-3295.The current definition of idiopathic short stature (ISS) refers to a heterogeneous group of short children, in the absence of any underlying detectable cause, including both normal variants of growth and pathological conditions. ISS subjects have been reported to reach an average final height of −1.5 SDS in boys...

To read the full abstract: Lancet 218; 392: 451–530Despite great improvements in diabetes care, people with type 1 diabetes (T1D) remain at increased risk of mortality and morbidity, in particular from cardiovascular disease (CVD). How exactly diabetes leads to CVD and which factors contribute to the increased risk profile is still largely unknown. Molecular mechanisms are being stu...