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Journal of Assisted Reproduction and Genetics

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01-03-2019 | Genetics

Rare genetic variants potentially involved in ovarian hyperstimulation syndrome

Authors: Katrien Stouffs, Sari Daelemans, Samuel Santos-Ribeiro, Sara Seneca, Alexander Gheldof, Ali Sami Gürbüz, Michel De Vos, Herman Tournaye, Christophe Blockeel

Published in: Journal of Assisted Reproduction and Genetics | Issue 3/2019

Abstract

Purpose

We aim to investigate whether there is a genetic predisposition in women who developed ovarian hyperstimulation syndrome (OHSS) after GnRH antagonist protocol with GnRH agonist trigger and freeze-all approach.

Methods

Four patients with OHSS after GnRH agonist trigger and freeze-all approach were gathered from the worldwide patient population. These patients were analyzed through Whole Exome Sequencing. In this study known causes of OHSS were investigated and new causes present in at least two individuals were searched for.

Results

In the first part of the study, we evaluated the presence of mutations in genes already known to be involved in OHSS. In PGR and TP53, heterozygous alterations were detected. PGR is predicted to be involved in progesterone resistance with a recessive inheritance pattern and is, therefore, not considered as being causal. The consequences of the variant detected in TP53 currently remain unknown. In part 2 of the study, we assessed the clinical significance of variants in genes previously not linked to OHSS. We especially focused on genes with variants present in ≥ 2 patients. Two patients have variants in the FLT4 gene. Mutations in this gene are linked to hereditary lymphedema, but no link to OHSS has been described.

Conclusions

Defining a genetic predisposition for OHSS is essential in view of prevention. In this study, a potential link between the FLT4 gene and OHSS has been suggested. Future functional studies are essential to define a more precise involvement of the detected variants in the development of OHSS.

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Title: Rare genetic variants potentially involved in ovarian hyperstimulation syndrome
Authors: Katrien Stouffs
Sari Daelemans
Samuel Santos-Ribeiro
Sara Seneca
Alexander Gheldof
Ali Sami Gürbüz
Michel De Vos
Herman Tournaye
Christophe Blockeel
Publication date: 01-03-2019
Publisher: Springer US
Published in: Journal of Assisted Reproduction and Genetics / Issue 3/2019
Print ISSN: 1058-0468
Electronic ISSN: 1573-7330
DOI: https://doi.org/10.1007/s10815-018-1372-5

Keynote webinar | Spotlight on sleep in brain health

Springer Medicine

Rare genetic variants potentially involved in ovarian hyperstimulation syndrome

Abstract

Purpose

Methods

Results

Conclusions

Keynote webinar | Spotlight on sleep in brain health

Springer Medicine

Abstract

Purpose

Methods

Results

Conclusions

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