[Familial generalized thyroid hormone resistance. Report of one case].
Thyroid hormone resistance is a rare autosomal dominant disease associated, in more than 90% of cases, to mutations in the beta thyroid hormone receptor. We report a 23 years old male that consulted for a psychiatric condition. Clinically, the patient was euthyroid in spite of high total and free T4 and T3 concentrations, while TSH remained normal. Also, TSH showed a five fold increase under TRH stimulation. The mother and one of his brothers had the same pattern of abnormal serum thyroid hormones. We discuss the diagnostic considerations and the protocol to study this rare pathology.
López
José M
JM
Departamento de Endocrinología, Facultad de Medicina, Pontificia Universidad Católica de Chile. jmlopez@med.puc.cl
Jiménez
Marcela
M
Campino
Carmen
C
D000328:Adult; D005192:Family Health; D006801:Humans; D008297:Male; D011988:Receptors, Thyroid Hormone / Q000235:genetics*; D013961:Thyroid Gland / Q000000981:diagnostic imaging / Q000473:pathology; D018382:Thyroid Hormone Resistance Syndrome / Q000175:diagnosis* / Q000235:genetics; D013963:Thyroid Hormones / Q000097:blood / Q000235:genetics*; D014463:Ultrasonography
D011988:Receptors, Thyroid Hormone; D013963:Thyroid Hormones