Čes-slov Pediat 2023, 78(90):17-21 | DOI: 10.55095/CSPediatrie2023/057
Multiple endocrine neoplasia in childhood
- Dětská klinika, Lékařská fakulta a Fakultní nemocnice v Plzni, Univerzita Karlova v Praze
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 ab
out 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
Accepted: November 22, 2023; Published: January 31, 2024 Show citation
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