A new molecular variant of luteinizing hormone associated with female infertility.

OBJECTIVE

To investigate whether the newly described G1502 to A1502 mutation in exon 3 of the LH beta-subunit gene, causing the amino acid substitution of Ser102 for Gly102, is related to female infertility.

DESIGN

Screening of fertile and infertile women for the G1502 to A1502 mutation in the LH beta-subunit gene.

SETTING

Clinics and laboratories of the National University Hospital obstetrics and gynecology department, Singapore.

PATIENT(S): Two hundred twelve healthy fertile women; 40 infertile women with menstrual disorders, polycystic ovary syndrome, and endometriosis; and 12 women with idiopathic infertility.

INTERVENTION(S): Exon 3 of the LH beta-subunit gene was analyzed using polymerase chain reaction (PCR), restriction fragment length polymorphism (RFLP), and PCR-mediated direct DNA sequencing.

MAIN OUTCOME MEASURE(S): The PCR products of patients were analyzed by RFLP, and the results were compared with those of fertile controls. DNA sequencing radiographs were compared between two mutation-bearing patients and four controls.

RESULT(S): The mutation was identified in only two infertile women with endometriosis; other women studied were found to be negative for this mutation.

CONCLUSION(S): The missense mutation in the LH beta-subunit gene may be implicated in female infertility, possibly endometriosis-associated infertility in some women.