A case of 45,X Turner syndrome with spontaneous ovulation proven by ultrasonography

A well-documented case of non-mosaic Turner syndrome, with spontaneous pube rtal development and ovulatory cycles is reported. Mosaicism could be exclu ded both by karyotyping of 172 metaphases of blood lymphocytes and fibrobla sts, and by fluorescence in situ hybridization, using an X-centromeric prob e, in 200 blood lymphocyte nuclei. This Turner syndrome patient underwent n ormal pubertal development, with spontaneous menarche at 14 years, followed by regular monthly periods. Hormonal measurements performed during puberty were consistent with the patient's pubertal development. At the age of 26 years the patient was referred for complete fertility evaluation. Detailed hormonal analyses were performed in a given cycle. They showed midluteal ph ase estradiol and progesterone values within the range corresponding to nor mal ovulation and corpus luteum function, In the same cycle, pelvic ultraso nography was also performed at days 13, 15 and 18. It demonstrated a sponta neous ovulation, with follicular rupture that occurred between days 15 and 18. This is the first report of a spontaneous ovulation in Turner syndrome evid enced, not only by hormonal analysis, but also by ultrasonographic demonstr ation of follicular rupture.