Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues

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Ovarian Hyperstimulation Syndrome (OHSS) [N97.9]

OMIM numbers: 608115, 136435 (FSHR)

Dr. rer. nat. Annett Wagner

Scientific Background

Ovarian hyperstimulation syndrome (OHSS) has been observed in up to 5% of all women who underwent hormonal stimulation in the course of in vitro fertilization (IVF) or intracytoplasmatic sperm injection (ICSI). The signs and symptoms may range from nausea and vomitting to ascites, ARDS, liver dysfunction and kidney failure. Several scientific studies showed an association between ovarian response to stimulation with recombinant FSH and a specific genetic variant in exon 10 of the FSHR gene. It was proved that female patients who are homozygous for p.S680S (Ser/Ser) need a considerably higher dose of FSH to stimulate for a successful ovulation induction than patients who are heterozygous for p.S680N (Ser/Asn) or homozygous for p.N680N (Asn/Asn). Based on this data the identification of the genotype enables dosage to be adapted individually and thereby reducing the risk for ovarian hyperstimulation syndrome. If OHSS still occurs, female patients with the homozygous genotype p.N680N seem to suffer more frequently from the severe form.