#may2020mccqe1
A 35-year-old man visits a fertility specialist with his 27-year-old wife. They have been trying to conceive for more than 13 months but have been unsuccessful. The husband has no previous children but the wife has two children from a prior marriage. Their past medical history is unremarkable except for repeated sinus infections and a chronic cough in the husband. Physical examination reveals a point of maximum impulse located at the right fifth intercostal margin.
What is the most likely diagnosis?
Answer:
The fact that the wife has had prior children suggests that the cause of infertility lies in the husband. Given the history, Kartagener syndrome is most likely. This is a genetic disorder with an autosomal recessive inheritance pattern.
The cause of their infertility is the abnormality in dynein, which is an adenosine triphosphatase that acts as a molecular motor and is responsible for retrograde transport of material along microtubules. In addition, it is required for movement of cilia and flagella. If this enzyme is not functional, it results in immotile sperm.
The cause of the husband’s recurrent sinus infections is the cilia of the respiratory epithelium require functional dynein for motility. Without it, they are unable to transport bacteria and particles out of the respiratory tract. The retained particles and bacteria can lead to infections as well as a chronic cough with sputum production.
The abnormality might be observed on x-ray of the chest is Situs inversus, the heart is found predominantly on the right side of the thorax. It may also show bronchiectasis, with signs of dilated bronchioles
A 35-year-old man visits a fertility specialist with his 27-year-old wife. They have been trying to conceive for more than 13 months but have been unsuccessful. The husband has no previous children but the wife has two children from a prior marriage. Their past medical history is unremarkable except for repeated sinus infections and a chronic cough in the husband. Physical examination reveals a point of maximum impulse located at the right fifth intercostal margin.
What is the most likely diagnosis?
Answer:
The fact that the wife has had prior children suggests that the cause of infertility lies in the husband. Given the history, Kartagener syndrome is most likely. This is a genetic disorder with an autosomal recessive inheritance pattern.
The cause of their infertility is the abnormality in dynein, which is an adenosine triphosphatase that acts as a molecular motor and is responsible for retrograde transport of material along microtubules. In addition, it is required for movement of cilia and flagella. If this enzyme is not functional, it results in immotile sperm.
The cause of the husband’s recurrent sinus infections is the cilia of the respiratory epithelium require functional dynein for motility. Without it, they are unable to transport bacteria and particles out of the respiratory tract. The retained particles and bacteria can lead to infections as well as a chronic cough with sputum production.
The abnormality might be observed on x-ray of the chest is Situs inversus, the heart is found predominantly on the right side of the thorax. It may also show bronchiectasis, with signs of dilated bronchioles
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