Items 211-214

A 29 year-old Caucasian male requests treatment for infertility. Routine patient reveals frequent colds and sinus infections; Examination of semen sample shows large numbers of non-motile spermatozoa. Chest X-rays reveal situs including right-sided location of the heart.

211. the most likely diagnosis is
(A) Down syndrome
(B) Cyptorchim
(C) Kartagener’s syndrome
(D) Bronchial pneumonia
(E) Klinefelter’s syndrome

212. If electron microscopic studies of the patient’s spermatozoa were carried out you would be most likely to find
(A) absence of basil bodies
(B) lack of mitochodria in the midpiece
(C) dynein arms missing from the ouhter
(D) radial spokes are inchoately coiled
(E) cross-licks between axoneme and plasma membrane are shortened

213. Bronchial clearance is most likely reduced because
(A) bronchial lumina are plagged with macrophages
(B) secretion by goblet cells is reduced
(C) cells of the lining epithelia lack all ATPase activity
(D) cilia on lining epithelial cells are non-motile
(E) the mucus produced by the lining epithelial cells is not soluble at physiological ionic strength

214. Which of the following conditions would the patient be LEAST likely to have?
(A) a poor sense of smell
(B) problems with balance
(C) frequent need to expectorate
(D) heightened sensitivity to painful stimuli applied to the skiin
(E) early heading loss

ANSWERS AND TUTORIAL ON ITEMS 211-214
The answers are: 211-C; 212-C; 213-D; 214-D. The patients suffer from Kartagener’s syndrome (or triad). This is an inherited defect (autosomal) related to the absence of one or both dynein arms from the other doublet microtubules of the exonemes of cilia and flagella. Dyneins are microtubules associated ATPases found attached of the outer doubles of cilia and flagella. They provide the energy (via hydolysis of ATP) to drive the bending activities of the flagella which move spermatozoa and the cilia which cause fluid to move over certain epithelial surfaces. In individuals who lack dyneins, cilia and spermatozoa are inactive. This result in infertility in males and reduced fertility in females. It also leads to respiratory infections because of inadequate clearance of mucous secretions that trap pathogens.

The combination of reduced clearance of mucous secretions constitutes the immotile cilia syndrome. When situs inversus occurs (due to failed rotation of developing organs) the complete Kartagener’s syndrome results. Patients with this condition often show functional defects in other organs whose activities involve cilia or modified cilia; these include olfactory epithelia, the organ of Corti, the vestibular apparatus and cells lining the ventricles of the brain. Perception of painful stimuli to the skin involves free nerve endings, structures that do not contain cilia. Embryo Transplant Microscopes ENT Surgical Microscopes