Infertility: Epidemiology and Etiology: Difference between revisions
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*** '''Also known as primary ciliary dyskinesia''' | *** '''Also known as primary ciliary dyskinesia''' | ||
*** '''Associated with infertility and respiratory pathology due to absence of ciliary movement''' | *** '''Associated with infertility and respiratory pathology due to absence of ciliary movement''' | ||
**'''<span style="color:#ff0000">Cystic Fibrosis | **'''<span style="color:#ff0000">Cystic Fibrosis</span>''' | ||
*** Inheritance: autosomal recessive | *** Inheritance: autosomal recessive | ||
****One defective allele must be inherited from each parent for a child to be affected | ****One defective allele must be inherited from each parent for a child to be affected | ||
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***#Obstructive azoospermia | ***#Obstructive azoospermia | ||
***#Dental carries | ***#Dental carries | ||
***'''Mutations in the | ***'''<span style="color:#ff0000">Mutations in the CFTR gene can lead to vasal and seminal vesicle agenesis/atresia</span>[https://pubmed.ncbi.nlm.nih.gov/33295257/]''' | ||
****Thought that dysregulation of proper fluid dynamics leads to obstruction and/or atrophy in the epididymis and vas deferens during embryogenesis | ****Thought that dysregulation of proper fluid dynamics leads to obstruction and/or atrophy in the epididymis and vas deferens during embryogenesis | ||
*****'''<span style="color:#ff0000">Mutations in the | *****'''<span style="color:#ff0000">Mutations in the CFTR gene are present in up to</span>''' | ||
******'''80% of men with congenital bilateral absence of the vas deferens (CBAVD)''' | ******'''<span style="color:#ff0000">80% of men with congenital bilateral absence of the vas deferens (CBAVD)</span>''' | ||
******'''20% of men with CUAVD''' | ******'''<span style="color:#ff0000">20% of men with CUAVD</span>''' | ||
******21% of men with idiopathic epididymal obstruction | ******21% of men with idiopathic epididymal obstruction | ||
*******While vasal abnormalities are apparent on physical examination, epididymal obstruction may only be diagnosed at the time of surgical exploration. As such, ''CFTR'' testing may necessarily occur after surgical treatment in some men. | *******While vasal abnormalities are apparent on physical examination, epididymal obstruction may only be diagnosed at the time of surgical exploration. As such, ''CFTR'' testing may necessarily occur after surgical treatment in some men. | ||