| Cystic Fibrosis
You are a transitional intern working in the
department of Urology. You are scheduled to see a 27
year old active duty member who was referred for the
evaluation of infertility. When the couple was seen
in the OBGYN clinic, a screening semen analysis demonstrated
azospermia. Your first step is to "Take a History".
The patient says that in general he is well except for
a long history of increased frequency of Upper Respiratory
Infections. Your recall reading about a varient of Cystic
Fibrosis associated with respiratory symptoms and infertility.
Go to OMIM:
- Search the OMIM database for: Cystic Fibrosis
- Look up clinical synopsis, text, genetic defect
and location of the CF gene.
Then return, and try to answer the following
questions:
- What is the most common mutation for CF?
- Describe the molecular abnormality associated with
CF?
- Can you explain the occurrence of infertility in
males with CF?
- What is the specific genotype associated with infertility
in males with CF?
Answers
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