Normosmic hypogonadotropic failure

Abstract

Currently, mutations have been described in a number of genes encoding proteins that control the release of LH-RH by hypothalamus. One such protein is itself LH-RH (gene GNRH1), its receptor (GNRH1-R), the controller allocation hypothalamus LH-RH protein Kisspeptin (KISS1), receptor Kisspeptin (KISS1-R), another regulator of release of LH-RH neurokinin B gene (TAC3) and its receptor neurokinin B (TAC3-R). In infertility clinic were admitted two patients with isolated hypogonadotropic hypogonadism form. Both patients were observed during the lifetime of low-levels of FSH and LH and primary amenorrhea. At the same time indicators of ovarian reserve, as measured by the AMH were sufficient for ovarian stimulation Patients are at lifelong hormone replacement therapy. In order to induce the growth of follicles patients received preparations containing exogenous FSH and LH. Given the presence of male factor infertility, in both patients was used intracytoplasmic sperm injection (ICSI ) as a method of fertilization. In both patients were received 5 and 8 eggs, and 4 and 6 embryos, respectively. In each patient were transferred two embryos. In both patients were achieved clinical pregnancies. In the first patient pregnancy stopped at 8th week for an unknown reason, the other patient delivered a full-term baby girl alive. These data demonstrate the high efficiency of the treatment of infertility in women with normosmic hypogonadotropic failure. In genetic analysis revealed that the first patient is a carrier of a mutation in the gene receptor LH-RH (GNRH1-R) in both alleles, whereas the second patient is a heterozygous for this gene variant.