Fertility preservation in Turner Syndrome: The first case of a young girl with 45,X Monosomy, where FISH analysis revealed that most oocytes had a normal tetraploid X chromosomal content

Background Ovarian tissue cryopreservation (OTC) could be a promising fertility preservation (FP) option in girls with Turner syndrome (TS), as it can be performed regardless of the age. We present a unique case of a girl with classic 45,X TS but with a cryptic X chromosome mosaic ovary containing follicles.

Methods Laparoscopic unilateral ovariectomy was performed to obtain ovarian cortex tissue for FP purposes. Part of a cortex fragment was used to determine the number of follicles by serial sectioning and staining. The remaining part was used to determine the X chromosomal content of ovarian cells by Fluorescence in situ hybridization (FISH) and to assess the developmental capacity of small follicles by an in vitro growth (IVG) assay.

Findings FISH analysis revealed that 14 of the 16 oocytes had a normal tetraploid X chromosomal content, the stromal cell compartment had both 45,X and 47,XXX cell lines and all granulosa cells had a 45,X karyotype. IVG showed that small follicles were capable of maturing to secondary follicles. However, the granulosa layers and membrana granulosa of both secondary follicles already present in the cortex and secondary follicles obtained after IVG were distorted.

InterpretationsTo the best of our knowledge, this is the first report in the literature describing the X chromosomal content of ovarian cells and analysis of the capacity of small follicles to develop to secondary follicles in a monosomic girl with TS. Karyotyping of extra-ovarian cells was not predictive of the karyotype of ovarian cells in the same patient.

Publication History

Article published online:
07 October 2020