A Four-year-old Girl with Pit-1 Gene Mutation, Extremely Short Stature and Hypoglycemia

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We report a case of a 4-yr-old girl with extremely short stature 65 cm (-9.6 SD), low body weight 7.3 kg (-4.6 SD), a characteristic face and hypoglycemia. She did not have her condition diagnosed until she was 4 yr old. She visited our hospital at 4 yr of age when her family moved from Aichi Prefecture. We suspected that she has had complete GH deficiency (CGHD), because her GH value was 0.08 ng/ml at the time of hypoglycemia (BS 35 mg/dl). GRF challenge test showed a peak of GH of 0.2 ng/ml. TRH challenge test showed a peak of TSH of 1.56 IU/mi and a peak of PRL less than 0.5 ng/ml. LH-RH challenge test showed a peak of LH of 3.0 mIU/ml and a peak of FSH of 20.8 mIU/ml. CRH challenge test showed a peak of ACTH of 218 pg/mi and a peak of cortisol of 27.0 ug/dl. The pituitary gland on the brain MRI was normal in size and position. Her bone age was below 1-yr-old by TW-2 RUS. She was diagnosed as having combined pituitary hormone deficiency of GH, TSH and PRL. A common mutation of the Pit-1 gene was detected at R271W in the heterozygous state. A previous paper reported that hypoglycemia was rare in patients with PIT-1 gene mutation but this case experienced hypoglycemia, which was improved after GH and thyroid replacement therapies were started.
日本小児内分泌学会の論文