Cystic Fibrosis, CFTR Gene, and Male Infertility
An abnormality of cystic fibrosis transmembrane conductance regulator (CFTR) gene is known to be one of the etiologies of male infertility. CFTR gene mutations are associated with cystic fibrosis (CF-severe phenotype) to congenital bilateral absence of th
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Cystic Fibrosis, CFTR Gene, and Male Infertility Rahul Gajbhiye and Avinash Gaikwad
Abstract
An abnormality of cystic fibrosis transmembrane conductance regulator (CFTR) gene is known to be one of the etiologies of male infertility. CFTR gene mutations are associated with cystic fibrosis (CF-severe phenotype) to congenital bilateral absence of the vas deferens (CBAVD-mild phenotype). CF is the most common autosomal recessive disorders in the Caucasians, characterized by chronic lung disease, pancreatic insufficiency, rise in sweat chloride, and obstructive azoospermia. The milder phenotype is classified as congenital absence of the vas deferens (bi- or unilateral) (CBAVD or CUAVD) or ejaculatory duct obstruction (EDO). Some of these CAVD cases are associated with unilateral renal anomalies (URA). The role of CFTR gene in this subtype of CBAVD-URA is still not understood clearly. The utility of advanced assisted reproductive technologies such as intracytoplasmic sperm injection (ICSI) helps CBAVD males to become biological fathers. If female partner is CF carrier, there is a risk of having a child with CF or CF-related disorders. The currently available CFTR mutation panels cover the most common mutations of Caucasians. Recent studies conducted in South Asian population suggested different spectrum of CFTR mutations than Caucasians. There is a need to develop population-specific CFTR gene mutation panels especially for South Asians where CF or CF-related disorders were once considered rare.
R. Gajbhiye, M.B.B.S., Ph.D. (*) Andrology Clinic, Department of Clinical Research, National Institute for Research in Reproductive Health, Indian Council of Medical Research, J M Street, Parel, Mumbai 400 012, India e-mail: [email protected] A. Gaikwad, M.Sc. Department of Anatomy and Developmental Biology, Monash University, 19 Innovation walk, Clayton, VIC 3800, Australia © Springer Nature Singapore Pte Ltd. 2017 R. Singh, K. Singh (eds.), Male Infertility: Understanding, Causes and Treatment, DOI 10.1007/978-981-10-4017-7_9
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R. Gajbhiye and A. Gaikwad
Keywords
CFTR-RDs • Cystic fibrosis • CBAVD • CUAVD • CBAVD-URA • Male infertility • Genetic counseling Key Points • Male infertility is associated with both cystic fibrosis (CF) and congenital bilateral absence of the vas deferens (CBAVD). • CF and CBAVD are two distinct spectrums of CFTR gene abnormalities. • CBAVD men carry different CFTR gene mutations than classic CF. • Renal anomalies are associated with ~11% men having CBAVD, more common in individuals having congenital unilateral absence of the vas deferens. • PESE-ICSI is the widely preferred and accepted treatment for men having CBAVD. • If female partner is CF carrier, there is a risk of having a child with CF or CF- related disorders such as CBAVD. • CFTR gene testing should be offered to both the partners before planning ICSI. • Population-specific mutation panels are required for accurate diagnosis and calculation of genetic risk in CBAVD men.
9.1
Introduction
Cystic fibrosis (CF) affect
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