Successful ongoing pregnancy following cryopreserved-thawed blastocyst transfer in an infertile Kallmann syndrome woman with balanced reciprocal translocation: a case report

Abstract

Successful ongoing pregnancy following cryopreserved-thawed blastocyst transfer in an infertile Kallmann syndrome woman with balanced reciprocal translocation: a case report R. Nishiyama, K. Kitaya, Y. Takaya, K. Yamaguchi, N. Kim, H. Matsubayashi, T. Ishikawa Reproduction Clinic Osaka, Osaka, Japan Summary Kallmann syndrome (KS) is a genetic disorder characterized by hypogonadotropic hypogonadism, anosmia, and infertility, occurring in approximately one in 50,000 women. Here the authors present a unique case of successful ongoing pregnancy in an infertile KS woman with balanced reciprocal translocation [t(12;18)(q22;q21.1)]. The patient had a history of one sporadic miscarriage and low level of serum anti-Müllerian hormone, basal follicular stimulating hormone, luteinizing hormone, and estradiol concentration. She showed a good response to ovulation induction using human menopausal gonadotropin and chorionic gonadotropin and conceived in an in vitro fertilization and cryopreserved-thawed blastocyst transfer cycle. Key words: Anti-Müllerian hormone; Balanced reciprocal translocation; Kallmann syndrome