Obstructive azoospermia, chronic sinopulmonary
infections, and bronchiectasis without ciliary dysfunction. Significant respiratory
Sinusitis Infertility Syndrome; Barry Perkins Young
Syndrome; Obstructive Azoospermia and Chronic Sinopulmonary Infections.
Probably > to 2:1000 in general population.
Autosomal recessive. High rate of spontaneous
Prolonged mucociliary clearance time (in the
presence of normal structure) resulting in chronic sinopulmonary infections.
The incidence and severity of infections usually improve after adolescence
(unlike with cystic fibrosis). Congenital or acquired obstruction to sperm
outflow (between the caput and body of the epididymis) in the presence of
normal spermatogenesis results in azoospermia and infertility.
Combination of azoospermia and chronic sinopulmonary
infection in the presence of normal spermatogenesis and hormone function
with surgical findings of obstruction to sperm flow are suggestive of the
History of recurrent cough and sputum production
in childhood. The respiratory symptoms improve after adolescence and only
mild residual impairment in pulmonary function, as evidenced by mild
decreases in residual volume and peak expiratory flow rate, remain. Chest
and sinus radiographic abnormalities consistent with chronic sinopulmonary
infections are common. The respiratory tract is not colonized with organisms
unlike in cystic fibrosis. These patients most frequently present to
infertility clinics later in life.
Evaluation of respiratory
system is highly indicated. However,
clinical evaluation alone may be adequate. If indicated by clinical
examination, chest radiography and pulmonary function tests may be required.
Important to exclude cystic fibrosis or immotile-cilia syndrome.
In view of chronic sinopulmonary
infections and mild decreases in pulmonary function tests, patients may be
at greater risk for postoperative atelectasis. Regional anesthesia may be
appropriate for intra- and postoperative pain management. If pulmonary
disease is significant, inhalational induction may be prolonged secondary to
slow uptake resulting from an abnormal V/Q ratio. Laryngospasm and cough must
be expected in Young Syndrome patients. Similar to other patients with
chronic airway inflammation, bronchial reactivity is potentially increased.
Nasal intubation and nasogastric tubes should probably be avoided
because of the presence of sinus infection.
Anticholinergic agents may make
pulmonary secretions more tenacious and difficult to clear. Muscle relaxants
should be used only with peripheral nerve stimulators because in
high-dose antibiotics, especially aminoglycosides, the action of
nondepolarizing muscle relaxants can be significantly prolonged.
Immotile Cilia Syndrome: Male infertility
and chronic sinopulmonary infections are characteristics of this syndrome.
Bronchiectasis is a frequent and intractable problem among Polynesians,
specifically New Zealand Maoris and Samoan Islanders. A defect in
spermatogenesis is also reported. Several defects in the motor mechanism of
cilia can lead to dysfunction or total immotility.
Mucoviscidosis: Congenital multiorgan
disease affecting mainly the lungs, liver, and pancreas. Frequent lung
infections, hemoptysis, intolerance to exercise, presence of clubbing
fingers suggesting pulmonary hypertension, rectal prolapse, and nasal
de Iongh R, Ing A, Rutland J: Mucociliary function, ciliary
ultrastructure, and ciliary orientation ...