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J Hum Reprod Sci. 2015 Oct-Dec;8(4):230-3. doi: 10.4103/0974-1208.170410.

Novel FSH receptor mutation in a case of spontaneous ovarian hyperstimulation syndrome with successful pregnancy outcome.

Author information

1
Department of Obstetrics and Gynecology, Seth GS Medical College and KEM Hospital, Parel, Mumbai, Maharashtra, India.
2
Division of Structural Biology, National Institute for Research in Reproductive Health, Parel, Mumbai, Maharashtra, India.
3
Department of Radiodiagnosis, Seth GS Medical College and KEM Hospital, Parel, Mumbai, Maharashtra, India.

Abstract

The objective is to study the FSH receptor (FSHR) for mutations in a case of spontaneous ovarian hyperstimulation syndrome (sOHSS). This is a single case study and it examined patient who presented with spontaneous critical OHSS in early pregnancy and had successful good obstetric outcome. Intervention of this study was analysis of blood for genetic analysis of FSHR postdelivery. The main outcome measure noted was FSHR mutation. The study resulted in a novel, here though unreported, heterozygous mutation in FSHR gene at nucleotide position 1346 (AC(1346)T to AAT) in exon 10 yielding a threonine to asparagine (Thr(449)Asn) substitution in the transmembrane domain helix 3 of the FSHR. To conclude FSHR gene analysis can add to our understanding of sOHSS.

KEYWORDS:

FSH receptor genetic analysis; FSHR mutation; spontaneous ovarian hyperstimulation syndrome

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