Authors: Sabahat Fatima , Zeenat Usman , Saqib Mehmood , Shagufta Khaliq

Abstract

Background and Objective:  Premature ovarian failure is a worldwide concern effecting 1% of females of reproductive age. The objective of the present study was to analyze the role of inhibin alpha (INHα) gene mutation (769G>A) in patients with premature ovarian failure (POF) in the local population.

Methods:  This case-control association studywas conducted in Department of Gynecology, Jinnah Hospital and The Children’s Hospital and Institute of Child Health  from July 2015-July 2016. A total of n = 100  were recruited for this study and divided into two gropus females with equal number (n = 50)of patients andnormal controls of reproductive age (14 – 40 years). The screening of theINHα for 769G>A variation in exon 2 was done through DNA sequencing.

Results:  A higher frequency of the major allele G was seen in both the patients (99%) and the controls (87%) while comparing to minor allele A (1% in patients and 13% in controls). None of the patients was found to be homozygous (AA = 0%) for allele A, whereas, four of the controls were homozygous (AA = 8%). The frequency of the minor A allele in controls was found to be statistically significant (P-value = 0.002).

Conclusion:  An association of decreased risk of POFwith A allele of the 769G>A variant rather than increasing the risk of development of ovarian failure.

Keywords: Ovarian physiology, Inhibin alpha (INHα) gene, Hypothalamic- pituitary-ovarian axis, Premature ovarian failure (POF).