A 27-year-old Caucasian man comes to the physician with his wife for an infertility evaluation. They have been trying to conceive for the last 14 months without success. A semen analysis shows a normal sperm count but completely immobile sperm due to abnormal tail function. Which of the following additional findings is most likely associated with this patient's condition?

Question

A 27-year-old Caucasian man comes to the physician with his wife for an infertility evaluation.  They have been trying to conceive for the last 14 months without success.  A semen analysis shows a normal sperm count but completely immobile sperm due to abnormal tail function.  Which of the following additional findings is most likely associated with this patient's condition?

Quizplus · Accepted Answer

The finding of impaired sperm motility raises concern for primary ciliary dyskinesia (PCD), an autosomal recessive condition caused by a variety of mutations in genes responsible for normal flagellar and ciliary function. The clinical manifestations of PCD include: Predisposition to upper and lower respiratory tract infections due to impaired mucociliary clearance. Patients develop chronic cough, chronic sinusitis, recurrent otitis media, and bronchiectasis (permanent abnormal airway enlargement). Randomization of left-right body asymmetry; half of all patients have situs inversus (reversed right/left positioning of internal organs) Infertility due to impaired function of sperm flagella (men) and immobility of fallopian tube cilia (women). Patients with the triad of situs inversus, chronic sinusitis, and bronchiectasis are said to have Kartagener syndrome. (Choice A) A cleft lip results from failure of the maxillary and medial nasal processes to fuse during development. It is not associated with defects in ciliary structure or function. (Choice B) Coarctation of the aorta may be seen in Turner (XO) syndrome. (Choice C) Fat malabsorption can occur in cystic fibrosis due to pancreatic insufficiency. Although male patients with cystic fibrosis are typically infertile, this results from bilateral absence of the vas deferens (azoospermia) as opposed to the impaired sperm motility seen in Kartagener syndrome. (Choice D) Most cases of hypertrophic cardiomyopathy are due to mutations in the genes encoding cardiac sarcomere proteins. (Choice E) Cirrhosis of the liver is not associated with PCD. Educational objective: Primary ciliary dyskinesia results from an autosomal recessive mutation in the proteins responsible for normal flagellar and ciliary structure and function (eg, dynein, assembly proteins). Clinical manifestations include situs inversus, chronic sinusitis, bronchiectasis, and infertility.

A 27-Year-Old Caucasian Man Comes to the Physician with His