Objective: To determine whether the known inactivating FSH receptor gene mutations are present in Japanese women with secondary amenorrhea because of premature ovarian failure (POF) and polycystic ovary syndrome (PCOS).
Design: Clinical and molecular studies.
Setting: An outpatient clinic in a university hospital.
Patient(s): Fifteen women with idiopathic POF, 38 women with PCOS, and three normal controls.
Intervention(s): Extraction of DNA from blood samples for subsequent polymerase chain reaction (PCR).
Main outcome measure(s): PCR fragments digested with MunI, BsmI, and HhaI were compared in patients and controls. PCR fragments were also analyzed by denaturing gradient gel electrophoresis (DGGE) and direct sequencing.
Result(s): No inactivating mutations reported thus far in exons 6, 7, 9, and 10 of the FSH receptor gene were identified in Japanese women with POF and PCOS. DGGE analysis of PCR fragments of exon 10 also revealed no FSH receptor gene mutations in this region.
Conclusion(s): Although we cannot exclude the presence of point mutations in other regions of the FSH receptor gene, the described FSH receptor mutations may be uncommon in Japanese patients with POF and PCOS.