Young's syndrome

From Otolaryngology Online


This rare syndrome comprises of three components:

1. Obstructive azoospermia

2. Bronchiectasis

3. Sinus disease


In 1970 a Liverpool Urologist David Young observed a group of patients with infertility(obstructive azoospermia) and lung disease. He coined the term Berry Perkin’s Young’s syndrome. In 1978 Hendry shortened the name to Young’s syndrome. He also classically described this syndrome as a complex of Obstructive azoospermia, sinusitis and bronchiectasis. It should also be pointed out that this term“Young’s syndrome” was already used in 1953 to describe women with prolonged fetal growth, high fetal / neonatal mortality, large babies, hyperlactation,obesity and diabetes. The usage of this term to indicate this disorder got lost down the line for some unknownreason.


During 1980’s this syndrome was described to be very common,commoner than cystic fibrosis. An estimated number of 1 in 500 males were estimated to be affected by this syndrome. Exposure to mercury has been attributed to be the reason behind this common occurrence. It has been clearly demonstrated by various studies that the incidence of Pink disease (Mercury poisoning) was positive in nearly 40 percent of these patients. Mercury is known to inhibit enzymes with suphydryl groups. These enzymes are necessary for normal glycolysis. Motility of sperm is highly dependent on glycolysis and hence is affected in these patients. Similarly motility of cilia is dependent on the energy released due to glycolysis, hence is also affected. With increasing reduction of mercury usage the incidence of Young’s syndrome has come down drastically. In fact it is pretty rare these days.


Young’s syndrome has been identified in identical twins. This prompted a through family evaluation of the affected individuals. Careful genetic studies have failed to identify the offending gene causing this problem.

Characteristic features of Young’s syndrome:

1. Obstructive azoospermia

2. Sinusitis

3. Bronchiectasis / Bronchitis

Usually this condition affects young males. Symptoms pertaining to sinuses usually disappear during adolescence. Pulmonary symptoms and obstructive azoospermia usually persist. These patients usually seek medical help for infertility rather than for sinu pulmonary symptoms. The diagnosis of Young’s syndrome is usually by the process of exclusion. All patients with infertility & sinus disorders should be evaluated. These patients had prolonged mucociliary clearance. Saccharine placed over inferior turbinate takes double time than normal to reach nasopharynx and posterior 1/3 of tongue. Cilia of nasal mucosa are found to be normal, with normal beat frequency. Ultra structural studies have shown abnormal inner dynein arms in these patients.

Criteria for diagnosing Young’s syndrome:

1. Presence of obstructive azoospermia

2. H/O Mercury exposure / toxicity

3. Presence of chronic rhinosinusitis

4. Presence of bronchitis / Bronchiectasis

Presence of any three of the above 4 criteria is sufficient to make a diagnosis of Young’s syndrome. Present day authors have started questioning the very existence of this syndrome.

Counter points against Young’s syndrome:

1. The incidence of sinusitis in these patients more or less resembles that of normal population.

2. Microscopically these patients do not show abnormalities involving cilia of nasal mucosa

3. Their major complaints seem to be infertility rather than sinusitis / bronchitis

4. Incidence is on the decline lending credence to the etiological factor of exposure to mercury.