Cystic fibrosis transmembrane conductance regulator mutations in azoospermic and oligospermic men and their partners

Gallati, Sabina; Hess, Simone; Galié-Wunder, Dorothea; Berger-Menz, Elisabeth; Böhlen, Dominik (2009). Cystic fibrosis transmembrane conductance regulator mutations in azoospermic and oligospermic men and their partners. Reproductive biomedicine online, 19(5), pp. 685-94. Oxford: Elsevier 10.1016/j.rbmo.2009.09.002

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The objective of this study was to investigate the contribution of cystic fibrosis transmembrane conductance regulator (CFTR) to human infertility and to define screening and counselling procedures for couples asking for assisted reproduction treatment. Extended CFTR mutation screening was performed in 310 infertile men (25 with congenital absence of the vas deferens (CAVD), 116 with non-CAVD azoospermia, 169 with severe oligospermia), 70 female partners and 96 healthy controls. CFTR mutations were detected in the majority (68%) of CAVD patients and in significant proportions in azoospermic (31%) and oligospermic (22%) men. Carrier frequency among partners of infertile men was 16/70, exceeding that of controls (6/96) significantly (P = 0.0005). Thus, in 23% of infertile couples both partners were carriers, increasing the risk for their offspring to inherit two mutations to 25% or 50%. This study emphasizes the necessity to offer extended CFTR mutation screening and counselling not only to patients with CAVD but also to azoospermic and oligozoospermic men and their partners before undergoing assisted reproduction techniques. The identification of rare and/or mild mutations will not be a reason to abstain from parenthood, but will allow adequate treatment in children at risk for atypical or mild cystic fibrosis as soon as they develop any symptoms.

Item Type:

Journal Article (Original Article)

Division/Institute:

04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Paediatric Medicine

UniBE Contributor:

Gallati, Sabina

ISSN:

1472-6483

Publisher:

Elsevier

Language:

English

Submitter:

Factscience Import

Date Deposited:

04 Oct 2013 15:12

Last Modified:

04 May 2014 23:23

Publisher DOI:

10.1016/j.rbmo.2009.09.002

PubMed ID:

20021716

Web of Science ID:

000272225700006

URI:

https://boris.unibe.ch/id/eprint/31845 (FactScience: 196593)

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