Multiple Endocrine Neoplasia Type 1: A case report
DOI:
https://doi.org/10.33448/rsd-v10i6.14834Keywords:
Hyperparathyroidism; Multiple Endocrine Neoplasia Type 1; Hyperprolactinemia.Abstract
Objective: To discuss about a rare case of type 1 multiple endocrine neoplasia and discuss issues related to the importance of early diagnosis. Methods: Information provided through medical record review, interview with the patient, photographic record of the exams to which the patient was submitted. Case report: Female, 60 years old, previous history of secondary amenorrhea since she was 18 years old. At the time, stylist gynecologist, in which hyperprolactinemia was verified and bromocriptine was prescribed. She remained without endocrinological follow-up for approximately forty years, when she was referred for specialized consultation. In consultation, hyperprolactinemia, hypercalcemia and elevated PTH were observed. In addition to imaging exams with pituitary microadenoma, thyroid, pancreatic and adrenal nodules. With the clinical diagnosis of NEM1, the patient and some family members are currently being called upon to collect genetic material for analysis and detection of the mutation profile. Conclusion: It was possible to conclude that Multiple Endocrine Neoplasia Type 1, if not diagnosed at the beginning, can cause important hormonal syndromes, just as it is important to be considered among the differential diagnoses.
References
Al-Salameh, A. et al. (2018). Update on multiple endocrine neoplasia Type 1 and 2. Presse Med, 47, 722-731,. < https://www.sciencedirect.com/science/article/abs/pii/S0755498218301477?via%3Dihub>.
Giusti, F. et al. (2021). Quality of life in Italian patients with Multiple endocrine neoplasia type 1 (MEN 1): results of an extensive survey. Orphanet Journal of Rare Diseases, 16, 1-15,. < https://ojrd.biomedcentral.com/articles/10.1186/s13023-020-01650-y>.
Guo, J. et al. (2021). Delayed diagnosis of multiple endocrine neoplasia type 1 during pregnancy: a case report. QJM: An International Journal of Medicine, 1-3,. <https://academic.oup.com/qjmed/advancearticle/doi/10.1093/qjmed/hcab004/6103801>.
Hoff, A. et al. (2005). Neoplasia Endócrina Múltipla Tipo 1: Diagnóstico Clínico, Laboratorial e Molecular e Tratamento das Doenças Associadas. Arq Bras Endocrinol Metab, 49,. < https://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27302005000500014 >.
Losso, A. et al. (2018). Neoplasia Múltipla Endócrina tipo 1: relato de caso. Revistas Científicas das Faculdades de Medicina, Enfermagem, Odontologia, Veterinária e Educação Física, 2,. <https://periodicosunimes.unimesvirtual.com.br/index.php/higeia/ article/view/988 >.
Marini, F. et al. (2015). Genetic test in multiple endocrine neoplasia type 1 syndrome: An evolving story. World J Exp Med, 5, 124–129,. < https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4436936/>.
Marx, J. et al. (1999). Multiple endocrine neoplasia type 1: clinical and genetic features of the hereditary endocrine neoplasias. Recent Prog Horm Res, 54, 397-438,. < https://pubmed.ncbi.nlm.nih.gov/10548885/>.
Marx, S. et al. (2018). Recent Topics Around Multiple Endocrine Neoplasia Type 1. J Clin.Endocrinol. Metab, 103, 1296-1301,. < https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6276662/>.
McDonnell, J. et al. (2019). Multiple endocrine neoplasia: na update. Intern Med J, 5, 954–961,. <https://onlinelibrary.wiley.com/doi/full/10.1111/imj.14394>.
Peipert, B. et al. (2018). Health-related quality of life in MEN1 patients compared with other chronic conditions and the United States general population. Surgery, 163, 205–11,. < https://www.surgjournal.com/article/S0039-6060(17)30546-9/fulltext>.
Pereira A. S. et al. (2018). Metodologia da pesquisa científica. Santa Maria/RS. Ed. UAB/NTE/UFSM.
Thakker, R. et al. (2012). Clinical practice guidelines for multiple endocrine neoplasia type 1 (MEN1). J Clin Endocrinol Metab, 7, 2990–3011,. < https://academic.oup.com/jcem/article/97/9/2990/2536740>.
Van Leeuwaarde, R. et al. (2018). High fear of disease occurrence is associated with low quality of life in patients with multiple endocrine neoplasia type 1: results From the Dutch MEN1 Study Group. J Clin Endocrinol Metab, 103, 2354–2361,. < https://academic.oup.com/jcem/article/103/6/2354/4956607>.
Wang, Y. et al. (2021). Multiple endocrine neoplasia type 1 with refractory hypoglycemia and lung and liver metastases: a case report. Journal of International Medical Research, 49, 1-7,. < https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7809309/>.
Wermer, P. et al. (1954). Genetic aspects of adenomatosis of endocrine glands. Am J Med, 16, 363-370,.< https://www.sciencedirect.com/science/article/abs/pii/0002934354903538>.
Downloads
Published
How to Cite
Issue
Section
License
Copyright (c) 2021 Yasmine Maria Leódido Fortes; Gustavo Eduardo Pires Fontenelle; Eduardo Erudilho; Reno Leite Zamignan; Bárbara Raveena Diniz Bergamini; Rebeca Matos de Almeida
This work is licensed under a Creative Commons Attribution 4.0 International License.
Authors who publish with this journal agree to the following terms:
1) Authors retain copyright and grant the journal right of first publication with the work simultaneously licensed under a Creative Commons Attribution License that allows others to share the work with an acknowledgement of the work's authorship and initial publication in this journal.
2) Authors are able to enter into separate, additional contractual arrangements for the non-exclusive distribution of the journal's published version of the work (e.g., post it to an institutional repository or publish it in a book), with an acknowledgement of its initial publication in this journal.
3) Authors are permitted and encouraged to post their work online (e.g., in institutional repositories or on their website) prior to and during the submission process, as it can lead to productive exchanges, as well as earlier and greater citation of published work.