Hypothyroidism and Levothyroxine-Responsive Liver Dysfunction in a Patient with Ring Chromosome 18 Syndrome

摘要: Background: Ring chromosome 18 [r(18)] is a rare constitutional chromosomal aberration syndrome, characterized by dysmorphic face, hypoactivity, short stature, and delayed development. Autoimmune thyroiditis immunoglobulin (Ig) A deficiency are occasionally associated with chromosome-18 deletion syndromes. Summary: Here, we report 2-year-old male child r(18) syndrome selective IgA (<1.6 mg/dL, reference range [rr]: 20–149), who developed hypothyroidism liver dysfunction. Thyroid function tests (thyroid-stimulating hormone [TSH]: 1031 μIU/mL, rr 0.43–4.0; free triiodothyronine: 0.52 pg/mL, 2.37–4.65; thyroxine: 0.11 ng/dL, 1.03–2.00) positive thyroid antibodies (anti-TSH receptor 1.7 IU/L, cut-off index [coi]: <1.0, antithyroid peroxidase 171 IU/mL, coi <0.3, antithyroglobulin 2.8 IU/mL, <0.3) indicated autoimmune hypothyroidism. Elevated levels of aspartate aminotransferase (AST, 240 IU/L, 17–39) alanine (ALT, 315 IU/L, 4–23...