A chorionic gonadotropin-sensitive mutation in the follicle-stimulating hormone receptor as a cause of familial gestational spontaneous ovarian hyperstimulation syndrome

Ovarian hyperstimulation syndrome can be induced by gonadotropins used for assisted reproduction, but it rarely occurs spontaneously. The present patient was from a family having recurrent spontaneous hyperstimulation syndrome while pregnant. Affected women were heterozygous for a mutation in the transmembrane domain of the gene encoding the follicle-stimulating hormone (FSH) receptor. In vitro studies suggested that the mutated receptor was less specific and was stimulated by human chorionic gonadotropin (hCG) as well as FSH.