Sexual Development in Apparently Nonmosaic Turner's Syndrome (XO)

Two girls with many features of Turner's syndrome and XO karyotypes menstruate regularly at ages 14 and 15. Menarches occurred at 10 yrs 11 mos and 13 yrs 5 mos. Laparoscopy in patient 1 showed grossly normal ovaries. Biopsies (40 mm3 on right and 24 mm3 on left) showed stroma with no follicles in the right and stroma with 1 atretic and one primordial follicle in the left ovary. Patient 2 had a cystic 2×2-cm. left and a yellow-white streak right ovary with a 1-cm. paraovarian cyst. 2-mm3 biopsy of the right ovary showed on atretic follicle. 72-mm3 biopsy of the left ovary yielded 8 or fewer primordial and atretic follicles and part of one Graafian follicle. LH and FSH during follicular phase were 11.1 and 15.8 mIu/ml in pt. 1 and 4.5 and 12.4 mIu/ml in pt. 2. Total serum estrogens in pt. 1 were 137 pg/ml. Studies of responses to LHRH are in progress. Buccal smears from the girls showed Barr bodies in 1/200 and 0/200 cells respectively. Karyotypes of three separate blood lymphocyte preparations and one ovarian fibroblast preparation from pt. 1 and one blood lymphocyte preparation from pt. 2 show only 45X with no evidence of mosaicism. Further chromosome studies are in progress.