Abstract

Eight children with cystinosis (3 with renal transplants, 2 on maintenance haemodialysis, 2 with chronic renal failure, and one with normal renal function) were studied for evidence of hypothyroidism, and compared with a control group of children with chronic renal failure due to other causes. Abnormal thyroid function was present in all the cystinotic patients: thyroxine (T4) low in 1, free thyroxine index (FTI) low in 2, thyroid-stimulating hormone (TSH) raised in 6; all had a supranormal TSH response to thyrotrophin-releasing hormone (TRH) stimulation, indicating impaired thyroid reserve compared with patients in the control group who had a depressed or normal TSH response. Increased growth velocity with thyroid supplementation occurred in only 2 patients, and the onset of puberty may have contributed to this improvement. Hypothyroidism is a common finding in cystinosis, and it is suggested that thyroxine treatment be started when the TSH concentration becomes raised.