Searchable abstracts of presentations at key conferences in endocrinology
Endocrine Abstracts (2013) 32 P508 | DOI: 10.1530/endoabs.32.P508

ECE2013 Poster Presentations Endocrine tumours and neoplasia (66 abstracts)

Heriditary forms of medullary carcinoma of the thyroid: about a new family

Nora Soumeya Fedala 1 , Farida Chentli 1 , Fatima Saraoui 1 , Lakhdar Griene 2 & Mohamed Chikouche 2


1Endocrinology Bab El Oued Hospital, Algiers, Algeria; 2Hormonology Cpmc Hospital, Algiers, Algeria.

The medullary carcinoma of thyroid is rare and represent 5–10% of the thyroid cancers. It appears under sporadic and family forms in more than a third of cases. It becomes integrated them into the multiple endocrine neoplasms type 2 of autosomique dominant transmission associate with germinal mutations of the gene RET. We bring report in this study, the observation of a new family shape. BL index case was diagnosed in the age of 42 years further to the appearance of a severe HTA associated with renal colics and a goiter. The paraclinic assessment reveals a bilateral pheochromocytoma, a medullary carcinoma and a primary hyperparathyroidism. The molecular study of RET gene reveals a germinal mutation of C634 R (TGC/CGC) exon 11. Bilateral surrenalectomy is realized followed by a thyroidectomy and parathyroidectomy. The evolution is marked by sudden death of the patient with recurrence of pheochromocytoma. A family investigation was indicated. Unfortunately, only eight subjects agreed to submit themselves to the exploration. All were affected and presented the same paintings phenotype and genotype. Prevalency of the medullary carcinoma family of novo is estimated between 5 and 16% of cases. So molecular analyses of gene RET must be realized systematically. This allows a early diagnosis and a specific and preventive care. 0.634 mutations is the most frequent and finds itself in more than two thirds of the cases with a correlation phenotype genotype. The risk of pheochromocytoma, hyperparathyroidism and aggressiveness of tumors are higher when patients are affected by this mutations.

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