Recently, several other inactivating mutations and polymorphisms have been reported: -29G>A identified in the promoter region by polymerase chain reaction (PCR) screening [28], -29G>A and A189V identified by PCR-restriction fragment length polymorphism [12], Ile418Ser in a patient with primary ovarian failure [29], Asp408Tyr identified by whole exome sequencing in the second transmembrane domain of FSHR [30], and a novel homozygous mutation (R59X) in exon 2 [31]. This evidence concerns the gene FSHR and primary ovarian failure.