| CASE REPORT |
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| Year : 2021 | Volume
: 8
| Issue : 2 | Page : 185-187 |
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Favorable outcome of r-FSH treatment in male with homozygous Ser680ASN variant in FSHR gene: a case report demonstrating pharmacogenomic implication in male infertility
Anuradha Udumudi1, Narmada Katakam2
1 GeneTech, Hyderabad, India
2 Genesis Fertility and Laparoscopy Centre, Hyderabad, India
Correspondence Address:
Dr. Narmada Katakam
Genesis Fertility and Laparoscopy Centre, 10-01-80/1/2, Sai Venkateshwara Hospital, Kharmaghat, 500079 Telangana
India
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/fsr.fsr_42_21
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Treatment of impaired spermatogenesis with recombinant follicle-stimulating hormone (r-FSH) has heterogenous response among patients. FSH receptor (FSHR) gene polymorphisms are known to be associated with male infertility with varied phenotype presentation. The presence of Serine 680 Asparagine (Ser680Asn) polymorphism is also linked to response to r-FSH when treating impaired spermatogenesis. We present a case of an Indian male with severe oligoasthenoteratozoospermia carrying homozygous Asn680Asn FSHR genotype, who responded favorably to r-FSH treatment, demonstrating significant improvement in seminal parameters and reduction of sperm DNA fragmentation index. Ser680Asn polymorphism of FSHR gene may serve as a clinically useful pharmacogenomic marker in identification of good responders to r-FSH treatment.
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