Assessment of Thyroid Function and Ultrasonographic Findings in Patients With Mucopolysaccharidosis

Abstract

Objective: The thyroid gland, with its high vascularity and low proliferation index of thyrocytes, is highly susceptible to storage diseases, however it has not been evaluated adequately in patients with in mucopolysaccharidosis (MPS). Therefore, the aim of this study is to assess the function, morphology, B- mode, and Doppler ultrasonography features of the thyroid gland in pediatric and adolescent patients with MPS and to evaluate whether the thyroid gland is involved in this disease. Material and Methods: Thyroid hormone functions were measured in all patients, and B-mode ultrasound and color Doppler imaging were performed. Results: Eight boys and 17 girls with MPS were included in the study. Eight patients were diagnosed with MPS I, 2 with MPS II, 3 with MPS III, 3 with MPS IVA, and 9 with MPS VI. Nineteen patients were receiving enzyme replacement therapy, while three patients diagnosed with MPS III remained untreated due to the unavailability of treatment options. Thyroid hormone levels were within normal limits for all patients. B-Mode ultrasound imaging revealed slightly heterogeneous echo texture in only 2 (8%) patients, both with MPS VI. Except for one patient with MPS VI, all color Doppler assessments were within normal limits. Conclusion: The results of our study demonstrate that both thyroid function tests and thyroid gland morphology are normal in MPS through childhood and adolescence. Therefore, we believe that thyroid gland dysfunction does not play a crucial role in the development of symptoms such as growth retardation, dry skin, coarse facial features, and intellectual disability, which could potentially be attributed to thyroid dysfunction. Instead, we think that these findings are more likely attributed to the primary disease involvement process