Abstract
We report a case of Hypomelanosis of Ito, a neurocutaneous syndrome, with GH deficiency.
Case: A 10-year-old Japanese girl was referred to our hospital with hypopigmentation and short stature. She was born at term (birth weight, 2, 460g) and delivery was normal. Her growth failure was severe and her height was 105.2cm (-5.3SD). Symmetrical linear hypopigmentation on the trunk and extremities was noted. Her mental development was retarded, but she had no convulsions. Her bone age was 7 years. Peak GH level after insulin and arginine stimulation was 5.5 and 6.6ng/ml, respectively. Human GH therapy was started at a dose of 0.5U/kg/week. Her height gain was 6.4cm/year for 6 months.
This is the first report on GH secretion in hypomelanosis of Ito with short stature. GH therapy was effective in the short term in this patient.
