Ovarian function in three female patients with McCune-Albright syndrome with persistent autonomous ovarian activity

Autonomous ovarian activity persists throughout adolescence in some patients with McCune-Albright syndrome (MAS). There have been few studies of longitudinal assessment of ovarian function in these patients. We investigated the first morning voided urinary gonadotropin and ovarian steroid levels consecutively in three patients aged 3 to 7 years after withdrawal of therapy for precocious puberty. They had the triad of MAS with onset of menses within the first 3 years of life. Excessively elevated urinary estrogen levels with one or two peaks per cycle were found in all patients. In two patients, café-au-lait spots and dysplastic bones were located unilaterally. These two patients showed significantly increased urinary pregnanediol levels, suggesting ovulation, with low levels of gonadotropins in one patient and moderately low levels with an LH surge in the other. Thus, only a unilateral ovary was anticipated to be mutated with persistent autonomous ovarian activity. In the remaining patient with bilateral involvement of tissues, relatively high LH and low FSH levels throughout a cycle were found with no rise in urinary pregnanediol.