Aspects and Evolution of the thyroid gland in Thyroid dyshormonogenesis

Kacem Akid Faten Haj; Samir Mkaouer; Wafa Belabed; Younes Ayadi; Nesrine Dhieb; Mouna Mnif; Majdoub Nabila Rekik; Mouna Elleuch; Mohamed Abid

doi:10.1530/endoabs.90.P519

P519

Prev Next

Section Contents Cite

Endocrine Abstracts (2023) 90 P519 | DOI: 10.1530/endoabs.90.P519

ECE2023 Poster Presentations Thyroid (163 abstracts)

Aspects and Evolution of the thyroid gland in Thyroid dyshormonogenesis

Faten Haj Kacem Akid , Samir Mkaouer , Wafa Belabed , Younes Ayadi , Nesrine Dhieb , Mouna Mnif , Nabila Rekik Majdoub , Mouna Elleuch & Mohamed Abid

Views

Author affiliations

Hedi Chaker Hospital, Endocrinology Department, Sfax, Tunisia

Introduction: Congenital Hypothyroidism is the principal cause of preventable mental retardation. It is due to Thyroid dysgenesis in 85% of the cases and in 15% to thyroid dyshormonogenesis.

Methods: We conducted a prospective study including 17 patients with familial congenital hypothyroidism due to thyroid dyshormonogenesis other than the features of thyroid gland by ultrasound. Other than the phenotype we evaluated the functionality by thyroid Scintigraphy with Radioactive Iodine. the mean follow up duration and the Evolution of the thyroid gland.

Results: During a long term follow up of 10,11 years [4-24] of 17 patients with congenital hypothyroidism due to thyroid dyshormonogenesis, Sex ratio was 1,83 in favor of male sex. The mean age of diagnosis was 7 year old [1 month-30 years]. Thyroid Gland size was normal in eleven patients, moderate homogenous goiter was present in five patients and One had multinodular gland Isotopic thyroid scan showed Increased Iodine Uptake with a positive perchlorate test in two patients leading to the diagnosis to TPO enzyme defect. Patients were treated with L -thyroxine normalizing TSH levels in 14 patients: baseline mean TSH was 54,92mUI/ml [5,2 -300] and Final TSH levels were 19,17[1,6-43] concomitantly, increasing volume and multinodularity was observed in three out of six patients. Regression of the Goiter was noticed in only one case. Seven out of eleven patients, developed a goiter at a mean duration of 13,83 years [2-27], at a mean age 16,71 year old [3-36].

Conclusion: In our study, despite normalization of Tsh levels in our patients, increasing thyroid volume and multinodularity was observed in 52 % suggesting involving other factors than TSH in the development and differentiation of the thyroid gland.