ACTA ENDOCRINOLOGICA (BUC)

Study Objective. To elucidate the association between POF and inhibin alpha (inhibin α) G769A gene mutation and BMP15 variants in patients with POF.\r\nDesign. Prospective analytic study.\r\nSetting: University hospital.\r\nPatients. Forty subjects were included, twenty patients with premature ovarian failure, of them 12 presented with primary amenorrhea and 8 with secondary amenorrhea, and twenty control subjects. Genetic analysis for inhibin α gene was\r\ndone by Polymerase Chain Reaction-Restriction Fragment Length Polymorphism analysis (PCR- RFLP) and Bone Morphogenetic protein 15 (BMP15) by PCR- sequencing analysis. \r\nMeasurements and Results. Regarding the inhibin α G769A gene\r\nmutation, heterozygous form was found in 3 patients of the primary amenorrhea group, while none of the secondary amenorrhea group or the control group displayed this mutation. A statistically significant prevalence of the G769A mutation among Egyptian women with POF presenting with\r\nprimary amenorrhea was found. Mutational analysis of BMP15 gene performed by sequencing analysis showed no mutation\r\namong the patient or control group.\r\nConclusion. In this study we concluded that inhibin α G769A gene mutation is more frequent among cases of POF presenting with primary amenorrhea and its presence conferred higher risk to development of POF. Variations of BMP15 gene were not encountered in the subjects of this study.