Genotyping in polycystic ovary syndrome (PCOS)

For genotyping in polycystic ovary syndrome (PCOS) 51 patients with hyperandrogeneamia (HA), and/or hyperinsulinamaemia (HI) and/or obesity (013) were included in this study. A group of 25 ovulatory lean women served as controls. The genetic profile investigated in HA- and/or HI- an/or OB- (PCOD) patients differs markedly but not significantly from that found in ovulatory lean volunteers concerning both the relative distribution and the number of gene mutations/deletions per subject. Heterozygous CYP21B mutations/deletions and INS VNTR are predicted by models of endocrine parameters, a finding which may support tracing out the source of HA (ovary, adrenal-gland, extraglandular factors). However, intensive serotyping and ovarian ultrasound remain necessary because there is still a gap among the diagnostic tools used.