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.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 has been recommended, which led to
hypothyroidism.