ECE2022 Eposter Presentations Calcium and Bone (114 abstracts)
Particularities of primary hyperparathyroidism in multiple endocrine neoplasia type 1: Tunisian data
Mnif Fatma 1 , Kawthar El Arbi 1 , Yosra Lajmi 2 , Asma Zargni 1 , Dhoha Ben Salah 1 , Oumeyma Trimeche 1 , Mouna Elleuch 1 , Nadia Charfi 1 , Mouna Mnif 1 , Nabila Rekik Majdoub 1 , Faten Haj Kacem Akid 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 an inherited syndrome characterized mainly by the association of: Primary hyperparathyroidism (PHP), gastro-entero-pancreatic tumors (GEP) and pituitary tumors. The aim of our work is to specify the particularities of PHP in MEN1 among Tunisian population.
Patients & Methods: It is a retrospective descriptive study of 7 cases of MEN1, including 3 familial cases, during a 28-year period.
Results: The mean age at diagnosis of our patients was 36 years with a female predominance (Sex-Ratio=1.3). PHP was the most frequent initial manifestation in MEN1 (5 cases) and it was present in all cases (7 cases). Four patients were asymptomatic at the time of diagnosis. PHP was complicated by urinary lithiasis in 3 cases and osteoporosis in 3 cases, which was severe in 2 cases. Surgical treatment was considered in six cases. This consisted of parathyroid adenoma removal in 4 cases and subtotal parathyroidectomy in two cases. The anatomopathological study concluded to multiple adenomas in 3 cases. A therapeutic failure with persistent hypercalcemia was observed in 2 cases. The genetic study was done in 4 patients. It showed the presence of a novel mutation, not previously described in the literature, of the MEN1 gene at exon 4 in three cases.
Conclusion: Our work illustrates the particularities of PHP in MEN1 and subsequently confirms the results of the literature.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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