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Endocrine Abstracts (2019) 63 P1164 | DOI: 10.1530/endoabs.63.P1164

ECE2019 Poster Presentations Thyroid 3 (74 abstracts)

A rare and particular form of goiter to recognize: The dyshormonogenetic goiter

Monia Ghammam , Jihene Houas , Mouna Bellakhdher , Abir Meherzi , Wassim Kermani & Mohamed Abdelkefi


Department of Otolaryngology and Neck Surgery of Farhat Hached University Hospital, Sousse, Tunisia.


Introduction: Thyroid dyshormonogenesis continues to be a significant cause of congenital hypothyroidism occurring due to a lack of enzymes necessary for the synthesis of thyroid hormones. Treatment can be medical or surgical. Early treatment is important to avoid mental retardation and growth abnormalities.

Case reports: We report 3 cases of dyshormonogenetic goiter occurring in 1 female and 2 males. The medium age of the patients was 12 years ranging from 7 to 20 years. Family history was significant for consanguinity; the patient’s parents were first cousins. On examination, the thyroid gland was enlarged ad multinodular in the 3 cases. There was no significant lymphadenopathy. Hypothyroidism was documented before the histological diagnosis was made in all cases. Ultrasonography revealed a diffuse enlargement of the thyroid in all cases. Both of the lobi and the isthmus contained confluent nodular masses. All patients underwent total thyroidectomy. The post-operative course was uneventful. The histologic examination concluded to a benign dyshormonogenetic goiter. Since thyroidectomy, all patients has been stable, with levothyroxine doses adjusted as needed to maintain a euthyroid state.

Conclusion: Dyshormonogenetic goiter is considered as a form of thyroid hyperplasia due to enzymatic defects in hormone synthesis. The architectural polymorphism and cellular atypia may mimic thyroid neoplasms and cause diagnosis difficulties. So this entity must be recognized in patient with history of hypothyroidism since infancy.

Volume 63

21st European Congress of Endocrinology

Lyon, France
18 May 2019 - 21 May 2019

European Society of Endocrinology 

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