Association of SNP rs.2414096 CYP19 gene with polycystic ovarian syndrome in Iranian women

Background: genetic factors are believed to play an important role in the etiology of polycystic ovarian syndrome [PCOS] which is the most common endocrinological disorder of women in their reproductive age. Androgen metabolism is impaired in PCOS and, thus, CYP19 gene which is involved in this pathway can be a candidate gene. Previous studies have shown a relationship between single nucleotide polymorphism [SNP] of CYP19 in hyperandrogenism and PCOS in some racial groups

Objective: this study was designed to elucidate the role of CYP19 gene in PCOS in Iran

Materials and Methods: in this case-control study, 70 PCOS women and 70 non-PCOS women as normal control were selected. Following the informed consent, 5 ml blood was taken from individuals and subsequently, genomic DNA was extracted by salting out method. Furthermore, a set of polymerase chain reaction restriction fragment length polymorphism [PCR-RFLP] was carried out using specific primers for SNP rs.2414096 followed by enzyme digestion, with HSP92II

Results: genotype frequencies of SNP rs. 2414096 in PCOS women were as follows: AA [14.4%], AG [44.3%], and GG [41.4%] while in normal group, genotypes were 24.3%, 52.8%, and 22.9%, respectively. Allele frequencies in PCOS group were 49.3% for A and 50.7% for G, whereas normal group had a different percentage of A [36.4%] and G [63.6%]. The calculations for both genotypic and allelic frequencies showed statistical significance difference

Conclusion: variants of SNP rs. 2414096 in CYP19 could play a role in the development of PCOS in Iranian women

Congenital adrenal hyperplasia and vanishing testis: rare case of male pseudohermaphroditism

Background: Congenital adrenal hyperplasia [CAH] and vanishing testes are uncommon diseases that can result from hormonal and mechanical factors. Classic CAH is determined by ambiguous genitalia and increase in amount of 17-Hydroxyprogesterone. Simultaneous occurrence of CAH and vanishing testes is a rare condition

Case: A 22-year-old boy, known case of CAH who was diagnosed as female pseudohermaphroditism due to ambiguous genitalia, was referred to Shahid Sadoughi Hospital, Yazd, Iran with colicky abdominal pain and hematuria. Ultrasonography has been performed and prostate tissue was reported. Karyotyping was done because of uncertainty in primary diagnosis, which revealed 46XY. For finding location of testes, ultrasonography and MRI were done and nothing was found in abdomen, inguinal canal or scrotum. Inhibin B serum level was measured to find out whether testis tissue was present in the body, which was <1 pg/ml and vanishing testis was confirmed

Conclusion: Early diagnosis and treatment are essential to prevent further sequels and karyotyping for all patients with CAH is recommended. Lifelong treatment with synthetic glucocorticoid replacement is necessary

Mutation analysis of exon1 of bone morphogenetic protein-15 gene in Iranian patients with polycystic ovarian syndrome

Background: with the prevalence of 6-10%, polycystic ovarian syndrome [PCOS] is considered the most common endocrinological disorder affecting women in their reproductive age. It has been suggested that genetic factors participate in the development of PCOS. Follicular development has been considered as one of the impaired processes in PCOS. Bone morphogenetic protein-15 [BMP-15] gene is a candidate gene in follicular development and its variants may play role in pathogenesis of PCOS

Objective: to investigate whether BMP-15 gene mutations are present in Iranian women with PCOS

Materials and Methods: in this cross-sectional study 5 ml venous blood samples was taken from 70 PCOS women referring to Afzalipour Hospital, Kerman University of Medical Sciences, Kerman, Iran, between January to December 2014. Genomic DNA was extracted from the blood sample by salting out method. Then a set of PCR reactions for exon1 of BMP-15 gene was performed using specific primers followed by genotyping with direct sequencing

Results: two different polymorphisms were found in the gene under study. In total 20 patients [28.6%] were heterozygote [C/G], and 2 patients [2.86%] were homozygous [G/G] for c.-9C>G in 5´UTR promoter region of BMP-15 gene [rs3810682]. In addition, in the coding region of exon1, three patients [4.3%] were heterozygote [G/A] for c.A308G [rs41308602]. Two PCOS patients [2.86%] appeared to have both c.-9C>G [C/G] and c.A308G [G/A] variants simultaneously

Conclusion: our research detected two polymorphisms of BMP-15 gene among PCOS patients, indicating that even though it cannot be concluded that variants of BMP-15 gene are the principal cause of polycystic ovarian syndrome; they could be involved in pathogenic process in development of PCOS