抄録
We investigated hypothalamic-pituitary function in two patients with CHARGE association to evaluate the cause of growth retardation and genital hypoplasia in this disorder. Case 1 was an 8 5/12-year-old boy. GH response to stimuli and spontaneous secretion during the first 3 hours of nocturnal sleep were normal. Gonadotropin response to GnRH and testosterone response to hCG were low, indicating hypogonadotropic hypogonadism. Case 2 was a 5 4/12-year old girl. GH responses to all provocative tests except GRF were low, indicating GH deficiency. She was treated with GH, which was remarkably effective in promoting her growth.
We concluded that hypothalamic-pituitary dysfunction was, at least in part, the cause of growth retardation and hypogonadism in CHARGE association.
