| Autor: |
Felipe Martins de Oliveira, MD, Sergio Setsuo Maeda, MD, PhD, Marília Martins Silveira Marone, MD, Lisiane Nectoux Hilário, MD, Márcio Rosa Pagan, MD, Rogério Colaiacovo, MD, Norberto Kodi Kavabata, MD, André de Moricz, MD, Mabel Tatty Medeiros Fracassi, MD, Ana Oliveira Hoff, MD, PhD, Delmar Muniz Lourenço Júnior, MD, PhD, Nilza Maria Scalissi, MD, José VianaLima Júnior, MD |
| Jazyk: |
angličtina |
| Rok vydání: |
2017 |
| Předmět: |
|
| Zdroj: |
AACE Clinical Case Reports, Vol 3, Iss 1, Pp e59-e65 (2017) |
| Druh dokumentu: |
article |
| ISSN: |
2376-0605 |
| DOI: |
10.4158/EP151089.CR |
| Popis: |
ABSTRACT: Objective: Multiple endocrine neoplasia type 1 (MEN1) has an estimated incidence in the general population of 0.01 to 2.5 cases per 1,000 individuals. Here we report on the case of a 36-year-old female patient with some uncommon aspects of MEN1.Methods: The patient was admitted with primary hyperparathyroidism (PHPT) and suspicion of parathyroid carcinoma, demanding additional exams. Abdominal resonance imaging revealed a left adrenal mass, three pancreatic tumors, and hepatic lesions. Diagnostic work-up revealed hypergastrinemia and autonomous production of corticosteroids.Results: The patient was subjected to multiple surgeries: subtotal parathyroidectomy, left adrenalectomy, subtotal pancreatectomy associated with enucleation of a tumor lesion in the pancreatic head, and resection of a hepatic metastasis. The patient's DNA sequencing analysis revealed a frameshift mutation in exon 3 of the MEN1 gene. Her daughter was found to be affected by the same mutation.Conclusion: This case presents three uncommon aspects in MEN1: (1) suspicion of PHPT due to parathyroid carcinoma, (2) the presence of a functioning adrenal adenoma producing Cushing syndrome, and (3) pancreatic location and malignancy of the gastrinoma.Abbreviations: MEN1 = multiple endocrine neoplasia type 1; PHPT = primary hyperparathyroidism; PTH = parathyroid hormone |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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