Background: Paediatric endocrinology became recognised in Western European countries in the 1960s and 1970s. It is now a thriving paediatric sub-speciality in many countries but remains non-existent or in its infancy in others. We have had the privilege to work in Western centres of excellence, and this review outlines the key stages in the development of modern centres, discussing the human and organisational issues that have underpinned progress in the establishment of this paediatric sub-speciality.
Summary: Human determination, vision, and ambition to create a modern centre and become a national flag bearer in the field are key components of success. The realisation that learning by spending time as a fellow away from one's home institution, so that knowledge can be acquired and brought back home, is also a key factor. Career structures should be designed to mentor and guide the trainee returning from a fellowship abroad. Scientific societies such as the European Society for Paediatric Endocrinology (ESPE) are key resources for networking, support, and discussion with experienced colleagues who may have faced similar challenges. Training and acquisition of knowledge through on-site or e-learning initiatives are beneficial and numerous examples exist, including the telemedicine model of store-and-forward consultations. Leadership skills can be learnt, and good working relationships with adult endocrinology colleagues result in benefits and political support.
Key Messages: The development of paediatric endocrinology in a region with hitherto no such facilities constitutes a major contribution to local, regional, and, in all likelihood, national patient care.
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http://dx.doi.org/10.1159/000530841 | DOI Listing |
Calcif Tissue Int
January 2025
Department of Endocrinology, University Hospitals Leuven, Herestraat 49, 3000, Leuven, Belgium.
Hyperparathyroidism-jaw tumor syndrome is a rare form of syndromic primary hyperparathyroidism. We describe a young female with a history of common precursor B acute lymphoblastic leukaemia who was diagnosed with overt primary hyperparathyroidism due to a pathogenic CDC73 variant (c.25C > T).
View Article and Find Full Text PDFCalcif Tissue Int
January 2025
Department of Paediatric Endocrinology, Alder Hey Children's Hospital, Liverpool, UK.
Autosomal recessive hypophosphatemic rickets type 2 (ARHR2) is an uncommon hereditary form of rickets characterised by chronic renal phosphate loss and impaired bone mineralisation. This results from compound heterozygous or homozygous pathogenic variants in ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1), a key producer of extracellular inorganic pyrophosphate (PPi) and an inhibitor of fibroblast growth factor23 (FGF23). ENPP1 deficiency impacts FGF23 and increases its activity.
View Article and Find Full Text PDFJ Neurooncol
January 2025
Department of Endocrinology, Genetics and Metabolism, Beijing Children's Hospital, National Center for Children's Health, Capital Medical University, Beijing, 100045, China.
Background: Craniopharyngioma (CP), a benign tumor originating from remnants of Rathke's pouch in the sellar region, accounts for approximately 30% of all cases of craniopharyngioma. Radiation therapy has been used to treat CP patients for decades; however, there is still a lack of systematic reviews on the long-term tumor control outcomes in pediatric CP patients treated with external radiation therapy.
Methods: We conducted a comprehensive search of multiple databases for studies on the tumor progression rates of childhood-onset CP(COCP) patients who received external radiotherapy.
Front Immunol
December 2024
Department of Pediatrics, Division of Hematology, Oncology, Stem Cell Transplantation and Regenerative Medicine, Stanford University School of Medicine, Stanford, CA, United States.
Cureus
December 2024
Department of Midwifery, School of Health and Care Sciences, University of West Attica, Athens, GRC.
Maternal Graves' disease (GD) poses a significant risk to neonatal thyroid function due to the transplacental transfer of thyrotropin receptor antibodies (TRAbs). This systematic review aims to assess the impact of maternal GD on neonatal thyroid outcomes and identify key maternal factors influencing these outcomes. A comprehensive literature search was conducted across PubMed, Scopus, and Cochrane, resulting in the inclusion of 18 studies published from 2014 to 2024.
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