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

OBJECTIVE: To 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.
DESIGN: A mutation analysis of gonadotropin receptor genes from women undergoing gonadotropin treatment.
SETTING: The 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.
CONCLUSION: LHR and FSHR coding polymorphisms are not a major cause of severe OHSS in Swedish patients.