The Finnish Follicle-stimulating Hormone Receptor Gene Mutation is Rare in North American Women with 46,XX Ovarian Failure

Objective: To determine whether FSH receptor gene missense mutation in Finnish women with premature ovarian failure (POF) is present in North American women with POF.

Design: Analysis of DNA from patients and controls.

Patient(s): Thirty-five women with POF and ten normal controls.

Intervention(s): Extraction of DNA with subsequent digestion by the enzyme BsmI, polyacrylamide gel electrophoresis, ethidium bromide staining, and photography.

Main Outcome Measure(s): After restriction enzyme digestion, the frequencies of the normal allele (two fragments of 51 and 27 base pairs) and the mutant allele (a single 78-base pair fragment) were determined.

Result(s): BsmI digestion was noted for all 35 affected individuals and 10 controls, thus demonstrating homozygosity for the normal FSH receptor allele. No patient or control was heterozygous or homozygous for the mutant allele.

Conclusion(s): The missense mutation in the human FSH receptor gene in Finnish women with POF is uncommon in North American women with POF. The molecular basis of ovarian failure for most patients remains unknown.