ArticleBMC medical genetics2017
First mutation in the FSHR cytoplasmic tail identified in a non-pregnant woman with spontaneous ovarian hyperstimulation syndrome.
Article in BMC medical genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 27 citations in OpenAlex.
- Pharmacological rescue of follicle-stimulating hormone receptor mutants. In vitro and in silico studies.Endocrinology · 2026Article
- Spontaneous ovarian hyperstimulation syndrome in early singleton pregnancy with hepatic involvement: two case reports of atypical presentations.Frontiers in reproductive health · 2026Article
- Spontaneous ovarian hyperstimulation syndrome mimicking ovarian cancer in a nonpregnant woman: A case report and literature review.The Journal of international medical research · 2025Review
- Ovarian Hyperstimulation syndrome combined with hypothyroidism: a comprehensive review.Journal of ovarian research · 2024Review
- Spontaneous and iatrogenic ovarian hyperstimulation syndrome in the absence of FSHR mutations: a case report of two unexpected cases.BMC medical genomics · 2023Article
- Updating the Landscape for Functioning Gonadotroph Tumors.Medicina (Kaunas, Lithuania) · 2022Review
- Functional characterization of naturally-occurring constitutively activating/inactivating mutations in equine follicle-stimulating hormone receptor.Animal bioscience · 2022Article
- Maternal complications of fetal triploidy: a case report.BMJ case reports · 2020Article
- Constitutive Activation and Inactivation of Mutations Inducing Cell Surface Loss of Receptor and Impairing of Signal Transduction of Agonist-Stimulated Eel Follicle-Stimulating Hormone Receptor.International journal of molecular sciences · 2020Article
- Spontaneous ovarian hyperstimulation syndrome in a nonpregnant female patient: a case report and literature review.The Journal of international medical research · 2020Review
- Spontaneous ovarian hyperstimulation syndrome: Report of two cases.World journal of clinical cases · 2019Article
- Non-syndromic monogenic female infertility.Acta bio-medica : Atenei Parmensis · 2019Review
- The N680S variant in the follicle-stimulating hormone receptor gene identifies hyperresponders to controlled ovarian stimulation.Pharmacogenetics and genomics · 2019Article
Corrections and comments
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Authors and funding
7 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundSpontaneous ovarian hyperstimulation syndrome (sOHSS) is a rare event occurring mostly during natural pregnancy. Among described etiologies, some activating mutations of FSH receptor (FSHR) have been identified. CASE PRESENTATION: We report hereby the case of a non-pregnant women with three episodes of sOHSS. Hormonal evaluation was normal and no pituitary adenoma was detected. However, genetic analysis identified a novel heterozygous FSHR mutation (c.1901 G > A). This R634H mutation is the first described in the cytoplasmic tail of the receptor. Functional analysis failed to reveal constitutive activity of the mutant but a decreased cAMP production in response to FSH. The weak activity of this mutant is correlated with a markedly reduced cell surface expression.
conclusionPathophysiology of non gestationnal sOHSS is still ill established. The molecular characterization of this new mutant indicates that it might not be at play. Therefore, further investigations are needed to improve knowledge of the molecular mechanism of this syndrome.
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