ECE2022 Eposter Presentations Endocrine-Related Cancer (61 abstracts)
Genetic novelty in MEN1: about a tunisian family
Mnif Fatma 1 , Kawthar El ARBI 1 , Yosra Lajmi 2 , Asma Zargni 1 , Faten Haj Kacem Akid 1 , Khouloud Boujelben 1 , Dhoha Ben Salah 1 , Nadia Charfi 1 , Mouna Mnif 1 , Nabila Rekik Majdoub 1 , Mouna Elleuch 1 , Hassen Kammoun 2 , Fatma Abdelhédi 2 & Mohamed Abid 1
1Hedi Chaker Hospital, Department of Endocrinology, Sfax, Tunisia; 2Hedi Chaker Hospital, Department of Medical Genetics, Sfax, Tunisia
Introduction: Multiple endocrine neoplasia type 1 (MEN1) is a rare hereditary syndrome that should be considered when different endocrine tumors are associated in an individual or familial context. We report the observation of a Tunisian family, two sisters and a brother.
Observations: Patient1: a 31 years old female, followed for multinodular goiter, was hospitalized for a left maxillary tumefaction associated with headache and blurred vision. Investigations concluded to a maxillary epulis complicating a primary hyperparathyroidism (PHP). A macroprolactinoma was also diagnosed. The epulis completely regressed after parathyroidectomy. Patient2: a 48 years old female, was followed for asymptomatic hypercalcemia due to a PHP. The investigations showed multiple parathyroid adenomas wrongly taken radiologically and macroscopically as nodular thyroid tissue. The screening for further lesions of MEN 1 was negative. Patient3: a 41 years old male was followed for multinodular goiter. PHP was revealed by recurrent bilateral renal lithiasis. He underwent a total thyroidectomy with removal of the hyperfixing adenoma on parathyroid scintigraphy. A persistent hypercalcemia was objectified indicating a reoperation. The screening for further lesions of MEN1 was negative.
The genetic study of this family identified a new missense mutation, not described in the literature, at exon4 of the MEN1 gene in the heterozygous state.
Conclusion: Recent studies have shown that specific clinical manifestations may affect one family more than the other. Intra-familial correlations were shown to be significant only for pituitary, adrenal glands and thymus. For this family, PHP was the constant lesion.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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