Exclusion of coding-region mutations in luteinizing hormone and follicle-stimulating hormone receptor genes as the cause of ovarian hyperstimulation syndrome

ObjectiveTo sequence the coding regions of the luteinizing hormone receptor (LHR) and follicle-stimulating hormone receptor (FSHR) genes to find out if polymorphisms in them are responsible for the severe form of ovarian hyperstimulation syndrome (OHSS) in Swedish patients.DesignA mutation analysis of gonadotropin receptor genes from women undergoing gonadotropin treatment.SettingThe Fertility Unit of Karolinska University Hospital Huddinge, Stockholm, Sweden.Patient(s)A set of 10 well-characterized patients with severe OHSS, and 10 control women who did not develop OHSS after FSH stimulation. An additional 11 patients and 41 control women were screened for a two-amino-acid insertion in the first exon of the LHR gene.Intervention(s)None.Main Outcome Measure(s)Changes in the sequence of the receptor genes between patients and controls.Result(s)No association was found between polymorphisms of the coding region of LHR or FSHR genes and the development of OHSS. Incidence of the two-amino-acid insertion in the first exon of the LHR gene was slightly higher in patients than in controls, but no statistically significant difference was seen.ConclusionLHR and FSHR coding polymorphisms are not a major cause of severe OHSS in Swedish patients.