Dysthyroidism and chromosomal aberrations

Dorra Ghorbel; Fatma Mnif; Donia Chebbi; Dhouha Ben Salah; Nabila Rekik; Mohamed Abid

doi:10.1530/endoabs.56.P1088

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Endocrine Abstracts (2018) 56 P1088 | DOI: 10.1530/endoabs.56.P1088

ECE2018 Poster Presentations: Thyroid Thyroid (non-cancer) (105 abstracts)

Dysthyroidism and chromosomal aberrations

Dorra Ghorbel , Fatma Mnif , Donia Chebbi , Dhouha Ben Salah , Nabila Rekik & Mohamed Abid

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Endocrinology-Diabetology Department, CHU Hédi Chaker, Sfax, Tunisia.

Introduction: Dysthyroidism is not uncommon during chromosomal aberrations. The objective of this work is to study the characteristics of this association at the epidemiological and clinical levels.

Methods: This is a retrospective study of 27 cases of patients with trisomy 21 chromosomal abnormalities (6 cases), klinefelter syndrome (4 cases) and Turner syndrome (17 cases) genetically confirmed, collected at endocrinology service at Sfax University Hospital (CHU) over a period of 20 years (1997–2017) during which we selected patients with thyroid disease.

Results: Six out of 27 patients had a dysthyroidism with a prevalence of 22.2%. Hypothyroidism was found in 5 patients. The average age was 19.6 years old. The mean FT4 was 5.75 pmol/l and the average TSH was 113.1 μmol/l. Only one case of hyperthyroidism was collected in a 9-year-old trisomy 9 with a FT4 of 24.3 pmol/l and a TSH of 0.015 μmol/l. Antithyroid antibodies was positive.

Conclusion: The prevalence of dysthyroidism during chromosomal aberrations is estimated at 25% to 60% in the literature, dominated by hypothyroidism and autoimmune origin in most cases. Thus systematic evaluation for thyroid dysfunction should be made in this population to detect such anomalies.