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Master Thesis

Diagnostic génétique de l'azoospermie et prise en charge en assistance médicale à la procréation au CHU de bordeaux, en particulier dans le contexte de l'agénésie bilatérale des canaux déférents

Abstract : Introduction: the etiologies of azoospermia are numerous and multifactorial. However, the latter remains unexplained in many cases. Reproductive medicine is essential in the care of these men with a desire for children. Methods: the study focused on all molecular genetic analyzes made at Bordeaux University Hospital as part of male infertility. After a balance sheet of the results, eight patients for whom two mutations of CFTR gene were not identified, were selected. They presented all the criteria for azoospermia related to congenital bilateral absence of vas deferens, defined by hypospermia, acidic pH, fructose level collapsed in the seminal plasma and clinical and echographic absence of vas deferens. Results: among the selected patients for second-line analyzes, one had a mutation in ADGRG2 gene. There was no evidence of deep intronic mutation of CFTR gene. Conclusion: genetics and reproductive medicine are intimately linked. The first allows an etiological diagnosis while the second proposes a therapeutic care. In the context of a congenital bilateral absence of vas deferens, the first genetic examination is the analysis of CFTR gene. In addition, deep intronic mutations could be sought systematically. The analysis of ADGRG2 gene is interesting in second intention. High throughput sequencing of the exome and genome are interesting perspectives for the genetic diagnosis of male infertility.
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https://dumas.ccsd.cnrs.fr/dumas-02419413
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Submitted on : Thursday, December 19, 2019 - 2:35:11 PM
Last modification on : Wednesday, May 6, 2020 - 12:35:31 PM
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Mathilde Humbert. Diagnostic génétique de l'azoospermie et prise en charge en assistance médicale à la procréation au CHU de bordeaux, en particulier dans le contexte de l'agénésie bilatérale des canaux déférents. Sciences du Vivant [q-bio]. 2019. ⟨dumas-02419413⟩

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