ECE2015 Eposter Presentations Clinical Cases–Thyroid/Other (101 abstracts)
Multiple endocrine neoplasia type 2A in a Turkish family presented with nonspesific symptoms
Dilek Tuzun 1 , Ayten Oguz 1 , Murat Sahin 1 , Ilhami Taner Kaleli 2 , Sevgi Bakaris 3 , Mustafa Saygin Deniz 4 , Cansu Yilmaz Cabioglu 4 & Kamile Gul 1
1Department of Endocrinology and Metabolism, Faculty of Medicine, Kahramanmaras Sutcu Imam University, Kahramanmaras, Turkey; 2Department of General Surgery, Faculty of Medicine, Kahramanmaras Sutcu Imam University, Kahramanmaras, Turkey; 3Department of Pathology, Faculty of Medicine, Kahramanmaras Sutcu Imam University, Kahramanmaras, Turkey; 4Department of Internal Medicine, Faculty of Medicine, Kahramanmaras Sutcu Imam University, Kahramanmaras, Turkey.
Introduction: Multiple endocrine neoplasia type 2A (MEN2A) is a complex autosomal dominant inherited syndrome characterized by medullary thyroid carcinoma (MTC), phaeochromocytoma, and primary parathyroid hyperplasia (PPH). In patients with only one or two clinical features, identification of a germline rearranged in transfection (RET) mutation or the identification of the clinical features of MEN2A in other first degree relatives is required to make the diagnosis. We present the case of a family with MEN2A syndrome, diagnosed with the complaint of abdominal pain.
Cases: Index case was the brother – OS – aged 28 years and was admitted to the hospital with the complaint of abdominal pain. There was no pathology in his medical history and physical examination. In radiologic examination; bilateral adrenal adenoma, multinodular goitre (MNG) and PPH was detected. Fine-needle aspiration cytology (FNAC) revealed MTC. And then operated for MTC, phaeochromocytoma, and PPH. Genetic analysis showed RET gene mutation in 634codons. His father was died from myocardial infarction 5 years ago. Upon that all family members were investigated for MEN. Second case (brother, GS, aged 27 years), third case (sister, AK aged 32 years), and fourth case (sister, LK, aged 22 years) had also MNG in thyroid USG examination, PPH and FNAC revealed MTC. Operations also decided for them. Biochemical and hormonal parameters of cases are as shown in Table 1.
| Case 1, OS | Case 2, GS | Case 3, AK | Case 4, LK | Normal reference range | |
| PRA | 5,82 | 11 | 21.07 | 42 | 0.7–3.3 ng/ml per h |
| PAC | 2.37 | 0.78 | 4.46 | 4.68 | 7–30 ng/dl |
| Normetanephrine (urine) | 1054 | 3401 | 1120 | 1227 | 88–444 μg/day |
| Metanephrine (urine) | 3211 | 14527 | 1831 | 3108 | 52–341 μg/day |
| Cortisol | 15 | 15 | 18 | 22 | 5–25 μg/dl |
| TSH | 2.2 | 1.18 | 2.86 | 0.9 | 0.4–4 IU/ml |
| DHEAS | 215 | 150 | 148 | 155 | 35–560 μg/dl |
| Calcitonin | 622 | 132 | 40 | 698 | <18.2 pg/ml (men) and <11.5 pg/ml (women) |
| Parathormone | 145 | 91 | 87 | 121 | 10–65 pg/ml |
| Calcium | 11.5 | 11 | 10.3 | 10.4 | 8.4–10.2 mg/dl |
| Albumin | 4.2 | 4.3 | 4.3 | 4.7 | 3.5–5.2 g/dl |
| Phosphor | 2.6 | 3.6 | 4.1 | 3.7 | 2.4–5.4 mg/dl |
| 1 mg overnight DST cortisol | 1.3 | 0.9 | 1.4 | 1.31 | <1.8 μg/dl |
| PRA, plasma renin activity; PAC, plasma aldosterone concentration; DST, dexamethasone suppression test. | |||||
Discussion: MEN2A is the most prevalent form and presents with MTC in 95% of cases, bilateral pheochromocytoma in 50% of the cases and primary hyperparathyroidism in 25% of cases. Bilateral adrenal adenoms determined at a young age should be investigated interms of MEN syndrome. Also, in our index case bilateral adrenal adenoms were incidentally detected. In light of the association between certain familial syndromes and patients diagnosed with pheochromocytomas at a young age should be screened with genetic testing for a RET mutation.
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Endocrine Abstracts
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