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Multiple endocrine neoplasia in childhood


Authors: Pomahačová Renata;  Paterová Petra;  Nykodýmová Eva;  Polák Petr;  Sýkora Josef
Authors place of work: Dětská klinika, Lékařská fakulta a Fakultní nemocnice v Plzni, Univerzita Karlova v Praze
Published in the journal: Čes-slov Pediat 2023; 78 (S3): 17-21.
Category: Comprehensive Report
doi: https://doi.org/10.55095/CSPediatrie2023/057

Summary

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


Zdroje

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654.  

7.    Pomahacova R, Paterova P, Nykodymova E, et al. Cystic ovarian teratoma as a novel tumor and growth hormone deficiency as a new condition presenting in multiple endocrine neoplasia type 2B: Case reports and review of the literature. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub 2022; 166(1): 105–111.

8.    Castinetti F, Waguespack SG, Machens A, et al. Natural history, treatment, and long-term follow up of patients with multiple endocrine neoplasia type 2B: an international, multicentre, retrospective study. Lancet Diabetes Endocrinol 2019; 7(3): 213–220. 

Štítky
Neonatology Paediatrics General practitioner for children and adolescents

Článok vyšiel v časopise

Czech-Slovak Pediatrics

Číslo S3

2023 Číslo S3
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