High prevalence of the Cyp21 V281L mutation in Egyptian lean women with polycystic ovaries and infertility

ABSTRACT

This study included 42 females [in the childbearing period] were who presented with irregular menstruation and infertility and had ultrasonographic findings of polycystic ovaries. Clinical evaluation was done including body mass index [BMI] calculation. Measurement of morning fasting blood levels of testosterone, 17 alpha hydroxyprogesterone [OHP], follicle stimulating hormone, luteinizing hormone, glucose and insulin was done on the 5th post-menstrual day. Insulin resistance [IR] was estimated using the homeostasis model assessment [HOMA] method. Genomic DNA was extracted from peripheral blood leukocytes and allele specific polymerase chain reaction was used to screen for the exon 7 V281L missense mutation. In conclusion, NC-21OHD due to V281L mutation has been shown to be a major underlying etiology among Egyptians presenting with PCO and infertility. This calls for the importance of screening for this adrenal disorder among this patient group in order to institute proper therapeutic strategies