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Genetic analysis of the follicle stimulating hormone receptor gene in women with polycystic ovary syndrome

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An Erratum to this article was published on 01 April 2007

Abstract

This study was designed to assess the relationship between mutations in the FSH receptor (FSHr) gene and polycystic ovary syndrome (PCOS) in Italian women. The study population included 50 patients with PCOS and 50 age- and body mass index (BMI)-matched controls. A complete anthropometrical, hormonal and pelvic ultrasonographic evaluation was performed in all subjects. Genomic DNA was extracted from peripheral lymphocytes and then each exon of the FSHr gene was amplified by PCR. The mutation identified was cloned and the functional properties were studied after transient expression in COS-7 cells. Direct sequencing of exons 1–10 of the FSHr gene revealed the presence of a heterozygous AAT/ATT mutation affecting the isoleucine residue at position 411, which was replaced by an asparagine, in the second transmembrane segment (I411N). This mutation was only found in one woman with PCOS and not in her parents. This mutation was not present in 50 age and BMI controls and in another 150 women not affected by PCOS. The functional study after transient expression in COS-7 cells revealed that this I411N had similar functional characteristics with respect to the wild type FSHr (wtFSHr). Genetic analyses of polymorphisms in the human FSHr gene were also performed. All 50 women with PCOS harbored the A307T polymorphic variant, 56% harbored N680S, 30% S680S and 14% N680N polymorphisms. In conclusion, the present study demonstrates that mutations of the FSHr gene are rare in Italian women. The only mutation that we found does not appear to have any pathophysiological significance in PCOS.

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Authors and Affiliations

  1. Dipartimento di Endocrinologia ed Oncologia Molecolare e Clinica, Università “Federico II” Napoli, Napoli, Italia

    F. Orio Jr MD, PhD, T. Cascella, A. Colao & G. Lombardi

  2. Dipartimento di Endocrinologia e Metabolismo, Centro Eccellenza AmbiSEN, Università degli Studi di Pisa, Pisa, Italia

    E. Ferrarini, A. Dimida, E. Gianetti, P. Agretti, P. Vitti, A. Pinchera & M. Tonacchera

  3. Dipartimento di Ginecologia ed Ostetricia, Università “Magna Graecia” Catanzaro, Catanzaro, Italia

    S. Palomba

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  1. F. Orio Jr MD, PhD
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  2. E. Ferrarini
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  3. T. Cascella
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Correspondence to F. Orio Jr MD, PhD.

Additional information

An erratum to this article is available at http://dx.doi.org/10.1007/BF03346306.

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Orio, F., Ferrarini, E., Cascella, T. et al. Genetic analysis of the follicle stimulating hormone receptor gene in women with polycystic ovary syndrome. J Endocrinol Invest 29, 975–982 (2006). https://doi.org/10.1007/BF03349210

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