Two novel missense mutations in exon 9 of TPO gene in Polycystic Ovary Syndrome patients with hypothyroidism

Abstract

This study was reflected on the relationship between the polycystic ovary syndrome (PCOS) and the genetic
alternations in TPO gene. Fifty infertile Iraqi women with PCOS and 20 healthy women were included in this
study, Blood samples were collected from the Infertility center of AL-Yarmok Teaching Hospital in Baghdad,
during the period from November, 2010 to May, 2011. The age of infertile and fertile women was ranged from 16 to
45 years. The results of hormonal assay were as follows: There is significant (P ≤0.05) decrease in E2 and FSH
levels in PCOS women and fertile women, There is significant (P ≤0.05) increase in LH levels in PCOS women and
fertile women. There is no significant differences in Testosterone levels and the ratio of LH/FSH was ≥1.5. The
molecular study was focused on the 18% of PCOS women with hypothyroidism. By sequencing for 27 samples; two
novel different mutations were identified in the reading frame of the TPO gene in transcript variant of exon 9:
c.1471delC (deletion C in codon 460) and c.1481delC (deletion C in codon 464). The percentage of mutations
c.1481delC and c.1471delC recorded 55% and 44% of PCOS with hypothyroidism; respectively.