Abstract
Top of pageAbstract Gonadal insuficiency was previously diagnosed because of lack of sexual development at puberty. The gonadotropic response to Gn-RH was studied in pre and post pubertal patients with anorchia and ovarian dysgenesis. In 16 patients with anorchia, aged 1 to 16 years, basal and post stimulation FSH and LH, were significantly higher than in cryptorchid patients, but comparable to anorchid adult men. Twenty three pre and post pubertal girls with Turner's syndrome and chromosomal constitutions XO; XO/XX; XO/Xr; XXqi and XO/Xqi were also studied. In the XO group, values were always significantly elevated, however, in the others, normal and high gonadotropin levels, specially FSH were observed in prepubertal patients. These findings demonstrate that prepubertal gonadotropin increase would indicate absence of functional testicular tissue in the male and in girls with Turner's syndrome and mosaicism or structural abnormalities of X chromosome the existence of ovarian agenesis like in the XO syndrome. On the contrary, normal levels would indicate the presence of functional ovarian tissue.
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