Absence of follicle-stimulating hormone receptor activating mutations in women with iatrogenic ovarian hyperstimulation syndrome

Objective To analyze the FSH receptor gene in women with iatrogenic ovarian hyperstimulation syndrome (OHSS). Design Clinical and molecular studies. Setting University hospital and private clinic. Patient(s) Twenty-nine women who developed moderate or severe OHSS after ovulation induction for IVF. In addition, 50 fertile normal women were used as controls. Intervention(s) Peripheral blood was used for DNA extraction. The exons 4, 7, 9, and 10 of the FSH receptor gene were amplified by polymerase chain reaction (PCR) followed by automatic direct sequencing. Main Outcome Measure(s) Hormonal results and automatic sequencing analysis. Result(s) Thirteen patients developed moderate OHSS and 16 patients developed the severe form of the syndrome. Automatic sequencing revealed no activating mutations in all patients studied. We found two known polymorphisms in linkage disequilibrium, Ala307Thr and Ser680Asn, in 79.3% of the patients (44.8% in heterozygous and 34.5% in homozygous state). These polymorphisms were found with similar frequency in the 50 normal fertile women. Conclusion(s) We conclude that the FSH receptor genotype did not play a significant role in the risk of iatrogenic OHSS in this cohort.