What assisted reproductive techniques are available for women with Turner syndrome?

  The medical outlook for Turner syndrome is primarily related to reproductive issues. Because women with Turner syndrome have only one X chromosome, or part of the X chromosome is lost, resulting in congenital ovarian hypoplasia. The fetus with Turner syndrome may have millions of germ cells in the middle of the mother’s pregnancy, which rapidly decreases afterwards, leaving only a few follicles in the fibrous cords at birth, resulting in gonadal insufficiency and infertility in the majority of adult women.  Adult women with Turner syndrome who are unable to conceive naturally now have the opportunity to become mothers through assisted reproductive technology. For infertile adult women with Turner syndrome, in vitro fertilization with donor eggs and embryo transfer has become the primary fertility option.  If Turner syndrome is chimeric (i.e., one part of the cells has the normal 23 pairs of 46 chromosomes and one part of the cells has only 45 chromosomes, with one X chromosome missing, i.e., 46XX/45XO type. The higher the percentage of normal cells, the less severe the manifestation of gonadal insufficiency), it is possible to conceive using your own eggs. At the time of egg retrieval, an ovarian biopsy can be performed to directly assess the cell karyotype. Successful conception is determined by the proven normal karyotype of the oocytes taken from the gonads. The method of freezing ovarian tissue in cold storage, harvesting immature oocytes from their tissue, maturing them in a test tube, and vitrifying mature oocytes is the most promising of the various fertility preservation methods for young women with chimeric Turner syndrome.  If Turner syndrome is chimeric and has normal follicle-stimulating hormone levels, sufficient ovarian function may be preserved to attempt traditional assisted reproductive techniques.  The vast majority of adult women with Turner syndrome have a hypoplastic uterus, or “small uterus”, which is due to gonadal insufficiency. Treatment of uterine dysplasia is a prerequisite for the implementation of assisted reproduction techniques. The ideal treatment is estrogen replacement therapy at the onset of puberty in normal children, with the goal of bringing secondary sexual characteristics to the level of girls of the same age.