ECE2024 Eposter Presentations Thyroid (198 abstracts)
An uncommon and distinctive type of goiter to recognize: about 5 cases
Houas Jihene 1 , Heyfa Belhadj-Miled 1 , Monia Ghammam 1 , Oussama Khalfi 2 , Malika El Omri 1 , Abir Meherzi 1 , Mouna Bellakhdhar 1 , El Ghali Wassim 3 , Yosra Hasni El Abed 4 , Wassim Kermani 1 & Mohamed Abdelkafi 1
1Farhat Hached Hospital, ENT Department, Sousse, Tunisia; 2, Department of radiology, Sousse, Tunisia; 3Department of Anaesthesia, Sousse, Tunisia; 4Endocrinology Department, Sousse, Tunisia
Introduction: Dyshormonogenetic goiter is a rare entity that affects 1 in 30, 000 to 50, 000 live births, and it is the second most common cause (10% to 15%) of permanent congenital hypothyroidism. It is morphologically characterized by architectural and cellular pleomorphism that may mimic thyroid malignancy and cause difficulties in differential diagnosis.
Material and Methods: We present five cases of dyshormonogenetic goiter gathered at our service.
Results: The cohort comprised three patients, 2 females, and 3 males, with an average age of 18.6 years (range: 7 to 32 years). All five were offspring of consanguineous marriages and were under observation for congenital hypothyroidism. The chief complaint in all patients was a basal cervical swelling. Clinical examination revealed multinodular goiter in 4 patients and a right lobar nodule in one patient. Delayed growth and psychomotor development were noted in two patients. Cervical ultrasound and thyroid scintigraphy were performed in all cases. Ultrasound demonstrated multinodular goiter in all patients. Scintigraphy revealed overall thyroid hyperfixation in all cases, with a hypofixation zone on the right side in one patient. Thyroid function tests indicated hypothyroidism in all five patients. All patients underwent surgical treatment: total thyroidectomy in four cases and right lobectomy in one case. Histopathological examination confirmed dyshormonogenetic goiter in all five cases. Favorable outcomes were observed in all cases, with no recurrence.
Conclusion: Dyshormonogenetic goiter represents a rare benign condition characterized by architectural and cytological characteristics that, if not well understood, may contribute to the overdiagnosis of malignancy. Recognition of this entity becomes crucial in cases lacking strict histological criteria for malignancy, particularly in individuals with a history of hypothyroidism since infancy. An exact molecular diagnosis allows genetic counseling and the identification of asymptomatic mutation carriers
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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