Multiple endocrine neoplasia in childhood
Authors:
Pomahačová Renata; Paterová Petra; Nykodýmová Eva; Polák Petr; Sýkora Josef
Authors‘ workplace:
Dětská klinika, Lékařská fakulta a Fakultní nemocnice v Plzni, Univerzita Karlova v Praze
Published in:
Čes-slov Pediat 2023; 78 (S3): 17-21.
Category:
Comprehensive Report
doi:
https://doi.org/10.55095/CSPediatrie2023/057
Overview
Multiple endocrine neoplasia syndromes (MEN syndromes) are rare autosomal dominantly inherited diseases with the occurence of tumors of two or more endocrine glands, with possible manifestation in early childhood. A late diagnosis of MEN syndrome can be fatal for an individual. Early identification of at-risk individuals is therefore crucial for the prevention and treatment of potentially life-threatening endocrine and non-endocrine neoplasias. MEN 2B syndrome has the most serious prognosis due to highly aggressive medullary thyroid carcinoma with early postnatal development and a high prevalence of de novo mutations. Knowledge of the non-endocrine features of this syndrome may lead to early diagnosis before the development of advanced malignant disease. We describe the latest knowledge about MEN syndromes with a focus on clinical symptoms, genetic background, genotype-phenotype correlation in MEN 2 syndromes, American Thyroid Association guidelines for screening of tumors and their treatment in children.
Keywords:
multiple endocrine neoplasia, medullary thyroid carcinoma, primary hyperparathyroidism, insulinoma, gastrinoma, nonendocrine features of MEN 2B
Sources
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Labels
Neonatology Paediatrics General practitioner for children and adolescentsArticle was published in
Czech-Slovak Pediatrics
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