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Cystic fibrosis presenting in a 45-year-old man with infertility
Insights
Cystic fibrosis, typically a childhood illness, can present in adulthood. This case highlights primary azoospermia as a potential initial symptom of cystic fibrosis in men without significant respiratory issues.
Area of Science:
- Medical Science
- Genetics
- Pulmonology
Background:
- Cystic fibrosis (CF) is predominantly recognized as a pediatric disease.
- It is characterized by severe pulmonary and pancreatic dysfunction.
- Late-onset manifestations of CF are documented but uncommon.
Observation:
- A 45-year-old man, previously healthy, presented with primary azoospermia.
- He had no significant respiratory symptoms at the time of presentation.
- Diagnostic workup revealed cystic fibrosis as the underlying cause.
Findings:
- This case represents a rare late-onset presentation of cystic fibrosis.
- Primary azoospermia was the initial and sole presenting complaint.
- The diagnosis was made in the absence of typical childhood CF symptoms or major adult respiratory compromise.
Implications:
- Infertility, specifically primary azoospermia, should be considered in the differential diagnosis of adult-onset cystic fibrosis.
- This finding expands the known clinical spectrum of cystic fibrosis.
- Early recognition of atypical presentations is crucial for timely diagnosis and management of CF in adults.
Abstract:
Cystic fibrosis commonly is regarded as a disease of childhood associated with severe pulmonary and pancreatic pathological conditions. We report on a previously healthy 45-year-old man who was diagnosed as having cystic fibrosis after presentation with primary azoospermia. The literature is reviewed. Although references are made to late presentations of cystic fibrosis none was found in which the initial complaint was infertility. Primary azoospermia may be the presenting manifestation of cystic fibrosis in the absence of major respiratory symptoms.