Gonadotropin-resistant ovary syndrome in a hypergonadotropic patient with FSHR/FSHB polymorphisms and abnormal karyotype
TL;DR
The combination of polymorphisms in the FSHR and FSHB genes and mosaicism for monosomy X and triple X supports an oocyte-related cause of infertility and suggests oocyte donation as the most effective treatment option for patients with a similar genetic profile.
Abstract
Abstract Gonadotropin-resistant ovary syndrome (GROS) is an endocrine disorder often associated with infertility due to a poor ovarian response to exogenous gonadotropins during controlled ovarian stimulation. The etiology of GROS is not completely elucidated. Pharmacogenetic studies suggest that polymorphisms in the genes encoding the follicle-stimulating hormone receptor (FSHR) and the FSH beta-subunit (FSHB) may contribute to the pathogenesis of GROS in some patients. We report a case of a 26-year-old woman with polymorphisms in the FSHR and FSHB genes who fulfilled the clinical and paraclinical criteria for GROS except for having a normal female karyotype. Karyotype analyses revealed low-frequency mosaicism for Turner syndrome, which, like GROS, may predispose to premature ovarian insufficiency (POI). This finding warrants regular follow-up, early detection of POI, and timely initiation of hormone replacement therapy. This case describes a woman with both GROS and mosaicism for monosomy X and triple X, a combination not previously described in the available literature. The combination supports an oocyte-related cause of infertility and suggests oocyte donation as the most effective treatment option for patients with a similar genetic profile. The patient achieved a live birth following in vitro fertilization with a donated oocyte.