Section: USMLE

30) A couple presents to a clinic for workup of infertility after 5 years of unprotected intercourse. The wife denies any medical problems and notes regular menstrual cycles. The husband states that he has had chronic sinusitis and lower respiratory tract infections. Physical examination of the woman is unremarkable. Examination of the man is remarkable for dextrocardia. Further workup of the husband will most likely reveal

1. azoospermia
2. germinal cell aplasia
3. immotile sperm
4. isolated gonadotropin deficiency
5. varicocele

The husband is suffering from Kartagener syndrome, an autosomal recessive disorder characterized by infertility, situs inversus, chronic sinusitis, and bronchiectasis. The underlying cause of these varied manifestations is a defect in the dynein arms, which are spokes of microtubule doublets of cilia in the airways and the reproductive tract. Since sperm motility is dependent on the functioning of cilia, infertility frequently accompanies this disorder. Situs inversus occurs because ciliary function is necessary for cell migration during embryonic development.

Azoospermia is not a feature of Kartagener syndrome, as sperm production or survival is not affected in this disorder.

Germinal cell aplasia, also known as Sertoli-only syndrome, is characterized by oligospermia or azoospermia.

Isolated gonadotropin deficiency is characterized by delayed or incomplete pubertal maturation.

Varicocele results in an increased testicular temperature, decreasing the count of normal, viable sperm.