Graves' disease and Turner's syndrome.
A case of a 17-year-old female with Turner's syndrome and Graves' disease is reported. The karyotype analyzed in peripheral blood lymphocytes showed a 45,X0 pattern without mosaicism. The diagnosis of Graves' disease was based on the presence of diffuse goiter and appropriate laboratory data, including elevated thyroid radioiodine uptake, increased serum thyroxine and free thyroxine index, detectable thyroid-stimulating antibody and elevated thyroid microsomal antibody titer. Hyperthyroidism was first recognized when the patient was 13-year-old and treatment wih carbimazole was instituted for 18 months. Relapse of hyperthyroidism occurred 9 months after withdrawal of therapy, and a second course of antithyroid drug treatment was given for two yr. Ovarian dysgenesis has been described with a relatively high frequency in patients with Hashimoto's thyroiditis, while the association with Graves' disease has been only occasionally encountered. This finding is surprising in view of the etiopathogenetic and genetic relationships between these two thyroid autoimmune disorders. Some possible explanations are offered to clarify this problem.
D000293:Adolescent; D005260:Female; D006111:Graves Disease / Q000150:complications / Q000235:genetics*; D006801:Humans; D007621:Karyotyping; D014424:Turner Syndrome / Q000150:complications / Q000235:genetics*