Young Syndrome

Obstructive azoospermia, chronic sinopulmonary infections, and bronchiectasis without ciliary dysfunction. Significant respiratory implications.

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 mutation.

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 diagnosis.

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 association with 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 polyps.