SCREENING FOR PIT1 ABNORMALITY BY PCR DIRECT SEQUENCING METHOD

PITI abnormality is defined as a genetic abnormality in the PITI gene, which encodes a pituitary specific transcription factor Pit-1/GHF-1. PITI abnormality has been reported in several patients displaying either complete or incomplete deficiency of thyrotropin (TSH), growth hormone (GH), and prolactin (PRL) in either familial or sporadic cases. To see if there are abnormalities in the PITI gene in patients with incomplete TSH, GH, and PRL deficiency, we utilized a PCR direct sequencing method to determine the Pit-1/GHF-1 coding sequence, A total of 15 patients, 1 patient from a family with TSH and GH deficiency, 3 patients with TSH, GM, and PRL deficiency, and 11 patients treated with both human GH (hGH) and thyroid hormone were studied, In one patient of combined pituitary hormone deficiency, the Arg-371-Trp mutation was detected, Since both of the parents did not harbor this mutation, it is a de novo germ line mutation, No mutation was detected in the other patients, showing that PITI abnormality is not a frequent cause of GH deficiency.