**2.2. CBAVD**

**1. Introduction**

112 Cystic Fibrosis in the Light of New Research

pregnancy outcomes.

**2.1. Pathogenesis**

female infertility has become increasingly important.

**2. Fertility in men with cystic fibrosis**

and up to half of them may be able to conceive spontaneously.

As the life expectancy of cystic fibrosis (CF) patients continues to increase, and more patients become adults with a chronic disease, researching the impact of this disorder on male and

Although most men with CF have significant anatomical abnormalities of the reproductive tract causing infertility, most women with CF have anatomically normal reproductive tracts

Assisted reproductive technologies can help both infertile male and female patients with CF in achieving successful parenthood. In addition, for women more health characteristics including baseline pulmonary function have to be evaluated as predictors of health and

CF is a systemic illness that affects multiple organ systems, including lungs, endocrine and epithelial tissues, gastrointestinal system, pancreas, and reproductive tract. Because of the dramatic improvement made in prognosis in CF population in the last two decades, reproduc‐ tive function has become one of the new red flags in the management of CF adult patients. Infertility in CF males has been extensively studied and found in most cases to be secondary to atrophy or malformation of the vas deferens, leading to an obstructive azoospermia (Figure 1).

**Figure 1.** Spermiogram performed in our 34-year-old patient affected by CF documents azoospermia

Cystic fibrosis transmembrane conductance regulator (CFTR) is a gene located on chromosome 7 (7q31.2), encoding for a protein located in the apical membranes of epithelial cells; it was CBAVD is a congenital condition in which vas deferens fails to develop properly, causing male infertility because of the total obstruction of reproductive tract. CBAVD accounts for approx‐ imately 1–2% of all infertility in males and is the result of genetic abnormalities [9]. More than half of the men with CBAVD (62–80%) carry a CFTR mutation and this condition is considered to be one of the most common CFTR-related diseases. Anatomical abnormalities include bilateral or unilateral absence of the vas deferens and seminal vesicles anomalies.

Subjects with CBAVD usually have no clinical symptoms of CF, but the finding of subclinical CF features is not uncommon (mild chloride elevation at sweat test, chronic sinusitis, nasal polyps) and actually many experts consider CBAVD as a mild CF form [9].
