Background/aims: This clinical and molecular study aimed to investigate the presence of follicle-stimulating hormone (FSH) receptor gene mutations in women with premature ovarian failure (POF) and poor responders to in vitro fertilization treatment.
Methods: DNA was extracted from blood samples for subsequent polymerase chain reaction (PCR). PCR was followed by restriction fragment length polymorphism and direct sequencing.
Results: No inactivating mutations reported so far were identified in exons 6, 7, and 10 in women with POF and poor responders.
Conclusion: FSH receptor gene mutations are not frequent in Greek patients with POF as is the case in the rest of the world except for cases with ovarian dysgenesis in Finland.
Copyright 2006 S. Karger AG, Basel.