Association of clinical, laboratory, and morphological characteristics of the ovaries in girls with turner syndrome and spontaneous puberty

All girls with paraovarian cysts and 9 of 10 patients with Turner syndrome had follicles in the ovarian cortex, and abnormal morphology was observed in all girls with Turner syndrome and 80% in the control group. All follicles from patients with Turner syndrome expressed the oocyte-specific immunohistochemical markers ZP2, GDF9, BMP15, and CD117. Follicle density in Turner syndrome was 6.8 times lower than that in the control group and did not correlate with age, stage of puberty according to the Tanner scale, serum levels of FSH, LH, estradiol, AMH, inhibin B, testosterone, antral follicle count, or ovarian volume. However, this was associated with the presence of a 46,XX, or 47,XXX cell clone in the karyotype. Healthy follicles in the ovarian cortex were not detected in girls with Turner syndrome who had FSH and AMH levels >15 IU/l and <0.307 ng/ml, respectively. Among patients with X-chromosome mosaicism without structural anomalies, a positive correlation was found between follicle density and inhibin B level in the blood.

Considering the presence of morphologically normal primordial follicles in ovarian fragments from girls with TS and the known risk of POI, ovarian cortex cryopreservation in this patient group may be a promising option.

The absence of clinical and laboratory signs of POI should not be regarded as the sole criterion justifying fertility preservation programs in patients with TS, particularly in those with a monosomic karyotype or structural anomalies of the X chromosome. The combined presence of X-chromosome mosaicism without structural anomalies, normal serum FSH levels for the corresponding age, and inhibin B levels appropriate for the stage of sexual development according to Tanner, along with detectable AMH levels, can serve as predictors of unchanged FD and folliculogenesis potential. Given the lack of large-scale studies establishing criteria for the presence of healthy follicles in the ovaries of girls with TS, as well as clear correlations between known OR and FD markers and long-term outcomes of ovarian cortex cryopreservation procedures in this patient cohort, it is essential to communicate the risks of obtaining non-functional material during counseling regarding the preservation of reproductive potential.

A.I. Turchinets, A.S. Badlaeva, E.V. Uvarova, A.V. Asaturova, N.S. Kamaletdinov, I.A. Kiseleva, Z.KH. KumykovA, A.A. Gavisova. Association of clinical, laboratory, and morphological characteristics of the ovaries in girls with Turner syndrome and spontaneous puberty