Endocrine Abstracts

Introduction: Turner syndrome (TS) is a chromosomal disorder affecting female and characterized by complete or partial monosomy of the X chromosome. These genetic changes lead to the abnormalities in growth and development and increase the risk of autoimmune diseases, including those affecting the thyroid. Thyroid pathology in TS may include autoimmune thyroiditis, hypothyroidism, thyrotoxicosis (Graves disease, AIT in the hyperthyroid state). Thyrotoxicosis is the clinical syndrome of excess circulating thyroid hormones. One of the main causes of thyrotoxicosis is Graves’ disease (GD), an organ-specific autoimmune disease caused by the production of stimulating thyrotropin receptor antibodies. There are three treatment options for thyrotoxicosis: anti-thyroid drugs, radioactive iodine and thyroidectomy. A personalized approach to disease management is especially important in cases of genetic diseases.

Methods: We present a clinical case of a patient with TS and GD, who has been referred to a radiologist at the Department of Radionuclide Therapy of Endocrinology Research Center. The patient was diagnosed with congenital hypothyroidism at neonatal screening, but thyroid hormones therapy was initiated aged three. Based on the survey, GD was diagnosed aged twenty one. Anti-thyroid drug therapy was started, which resulted in toxic hepatitis. Taking into account intolerance to anti-thyroid drugs, radioiodine therapy (RAIT) has been recommended.

Results: RAIT led to hypothyroidism throughout 2 months with decreasing of thyrotoxicosis symptoms and levels of liver enzymes.

Conclusion: Nowadays, the pathophysiological aspects of more frequency prevalence of thyroid autoimmune pathology in patients with TS are not clearly understood. RAIT for patients with GD on the background of TS or another chromosomopathy should be considered individually with taking into account potential risks of radioactive iodine complications. Also, it is important to investigate the influence of RAIT on liver function.

Keywords: Turner syndrome; autoimmunity; Graves’ disease; radioiodine therapy; chemical and drug induced liver injury