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Follicle stimulating hormone receptor gene variants in women with primary and secondary amenorrhea

  • Genetics
  • Published:
Journal of Assisted Reproduction and Genetics Aims and scope Submit manuscript

Abstract

Purpose

This retrospective study was designed to analyze the FSHR gene variants in subjects with primary and secondary amenorrhea with hypergonadotropic hypogonadism.

Materials and methods

Eighty six women with primary or secondary amenorrhea and 100 normally cycling proven fertile women of Indian origin were retrospectively studied. These subjects were systematically screened for entire FSHR gene.

Results

The frequency distribution of polymorphism at −29 position of FSHR gene is altered in women with primary and secondary amenorrhea as compared to controls. AA genotype at −29 position of FSHR gene seems to be associated with increased serum FSH levels in the study subjects. We have identified a novel homozygous mutation C1723T (Ala575Val) in one woman with primary amenorrhea.

Conclusions

Our findings suggest that increased serum FSH levels in subjects with primary amenorrhea correlated to FSHR genotype at position −29. We identified a novel homozygous mutation C1723T (Ala575Val) in a woman with primary amenorrhea.

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Acknowledgements

The research work related to this publication was supported by grants from National Institute for Research in Reproductive Health (NIRRH/MS/69/2009) and from the Indian Council of Medical Research, New Delhi, India (63/116/2001-BMS II). We would like to thank Dr. Anurupa Maitra (DNA Sequencing Core Facility, NIRRH) for her help in DNA sequencing. We acknowledge Dr. D. Balaiah and Mr. Prashant Tapse (Division of Biostatistics, NIRRH) for their help in statistical analysis.

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Correspondence to Smita D. Mahale.

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Novel homozygous FSHR gene mutation C1723T (Ala575Val) is identified in a woman with primary amenorrhea.

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Achrekar, S.K., Modi, D.N., Meherji, P.K. et al. Follicle stimulating hormone receptor gene variants in women with primary and secondary amenorrhea. J Assist Reprod Genet 27, 317–326 (2010). https://doi.org/10.1007/s10815-010-9404-9

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  • DOI: https://doi.org/10.1007/s10815-010-9404-9

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