K. Lynch

Turner mosaicism (45,X/46,XX) diagnosed in a young woman subsequent to low oocyte maturity and failed ICSI

OBJECTIVE To report a case of Turner mosaicism with low oocyte maturity during ICSI. DESIGN Retrospective case report. SETTING Academic tertiary medical center. PATIENT(S) A 28-year-old patient with 7-year history of primary unexplained infertility. INTERVENTION(S) Four cycles of ICSI. MAIN OUTCOME MEASURE(S) Oocyte quality; fertilization, cleavage, and implantation rates; and live births during ICSI cycles; as well as patient karyotype were obtained. RESULT(S) Over four cycles of ICSI, 111 oocytes were harvested, a high follicular response, but 68% were immature (germinal vesicles or metaphase I). Additionally, seven embryos were transfered, but none implanted. Owing to this unusual response in a young healthy woman, maternal karyotype was performed, which demonstrated 17% Turner mosaicism. CONCLUSION(S) This is, to our knowledge, the first reported case of excellent ovarian response but marked oocyte immaturity in a young woman with Turner mosaicism. The implications of sex chromosome aneuploidy on fertility and the significance of low oocyte maturity are discussed.