ESPE Yearbook of Paediatric Endocrinology

Brief Summary: The authors describe the development and utility of an international collaborative database in congenital adrenal hyperplasia (CAH). I-CAH serves as a tool for benchmarking clinical care and supporting research and development of novel therapies.Rare disease registries can form the basis of best practice guidelines and allow for monitoring of new drugs and therapeutic interventions. The I-CAH Registry was developed as an international plat...

To read the full abstract: Arch Dis Child 2018;103:637-642Management of thyrotoxicosis in children and adolescents remains challenging and treatment varies considerably among institutions. The patient’s age, clinical status and likelihood of remission should be considered when counseling patients and parents. Nevertheless, individual prognosis of antithyroid drug treated Graves’ diseas...

To read the full abstract: Int Health 2018; 10(2):100-107This article addresses the important issue of acceptance of the congenital screening for congenital hypothyroidism (CH) by the population in general and the families in particular. While it is usually obvious for the health professional that screening for CH is beneficial to the potentially affected neonate, culture, level of education, ...

Brief Summary: The SF1next study describes a cohort of 197 individuals with NR5A1 / SF-1 variants, identified through the I-DSD registry and a research network involving 55 centers across 18 countries. NR5A1/SF-1 plays a crucial role in the development and function of human sex and steroid producing organs, and variants in this gene can significantly affect early sex determination and differentiation. This can lead to a wide spectrum of differences i...

Brief Summary: This process study describes the adaptation of previously established clinical practice guidelines for hyperthyroidism to better suit the local healthcare context in Pakistan. Adaptation utilized the GRADE-ADOLOPMENT method.Hyperthyroidism is more prevalent in Pakistan (2.9%) than in the US and Europe. Pakistan faces unique challenges due to its diverse geography, dietary habits, and healthcare financing issues. Local guidelines are needed...

J Clin Endocrinol Metab. 2021 Jan 23;106(2):351–363. doi: 10.1210/clinem/dgaa857. PMID: 33236116.Here, the authors report the long−term outcomes of all 17 known, well−investigated cases of pituitary blastoma. The median age at diagnosis was 11 months, and the most frequent presentations were Cushing syndrome (n=10), cranial nerve palsies including ophthalmoplegia (...

Eur J Endocrinol. 2020 Jun;182(6):P1–P15. doi: 10.1530/EJE-19-0831. PMID: 32268295.This paper describes the concerted efforts of the EU COST Action DSDNet and the European network for rare endocrine diseases Endo-ERN. A total of 33 laboratories were involved and they describe state of the art assessments of the peptide hormones: follicle-stimulating hormone (FSH), luteinizing hormone (LH)...

Eur J Endocrinol. 2022 Apr 21;186(6):G9-G49. PMID: 35353710, doi: 10.1530/EJE-22-0073.Brief Summary: This Endo-European Reference Network guideline was endorsed by the European Society for Pediatric Endocrinology, the European Society for Endocrinology, and the European Academy of Andrology. It provides extensive data on the hormonal management in young individuals with hypogonadism or DSD in nee...

Eur Heart J. 2022 Mar 17:ehac112. PMID: 35296881, doi: 10.1093/eurheartj/ehac112.Brief Summary: This translational study explored the molecular and cellular mechanisms whereby testosterone impacts vascular function. The findings suggest that hypospadias is associated with vascular dysfunction and represents a risk factor for hypertension and cardiovascular disease in adulthood due to impair...

To read the full abstract: Eur J Endocrinol. 2020, Jun; 182: P1–p15; doi: https://eje.bioscientifica.com/downloadpdf/journals/eje/182/6/EJE-19-0831.pdfDiagnosis and monitoring of therapies for DSD patients require clinical, biochemical and genetic assessments. Biochemical analyses comprise the measurements of peptide and steroid hormones. This positi...