Young Syndrome

Continuing Education Activity

Young syndrome, also known as sinusitis-infertility syndrome, is a rare inherited syndrome similar to Kartagener syndrome. Individuals born with this disorder have normally functioning lungs but tend to produce thick, viscous mucus, which increases their risk of developing pulmonary infections. This activity reviews the evaluation and management of Young syndrome and highlights the interprofessional team's role in the recognition and management of this condition.


  • Review the pathophysiology of Young syndrome.
  • Outline the typical presentation for a patient with Young syndrome.
  • Describe the recommended management of Young syndrome.
  • Explain collaborative interprofessional team strategies to improve detection of Young syndrome and prevent complications in affected patients.


Young syndrome, also named sinusitis-infertility syndrome, is named after urologist Dr. Donald Young who first observed this condition. It is a rare inherited syndrome similar to Kartagener syndrome and often presents in middle-aged men with chronic rhinosinusitis, reduced fertility due to azoospermia, and bronchiectasis. Its prevalence is comparable to Klinefelter syndrome and is one of the causes of both chronic sinopulmonary infections and azoospermia. Spermatogenesis is normal, and the reduced fertility is due to obstruction of sperm transport down the genital tract.[1] Individuals born with this disorder have normally functioning lungs but tend to produce thick, viscous mucus, which also traps sperms in epididymis affecting their movement. The azoospermia is due to functional obstruction of sperm transportation down the epididymis.[2]


The exact cause of Young syndrome is unknown, but in addition to a genetic etiology, some researchers speculate that it could be due to mercury exposure.[3]


Young syndrome is a rare inherited syndrome. It has correlations with mercury exposure. Since the implementation of restrictions on mercury use, the incidence of Young syndrome has also declined.


Pathophysiology is not well known. While it resembles Kartagener syndrome, it is still not clear if ciliary dysfunction is the primary abnormality.

History and Physical

As always, a complete and thorough history and physical exam are necessary. Clinical features involving different organ systems are[4][5][6][7][8][9]:

  • Pulmonary: Newborns may suffer from respiratory distress, but the primary manifestations of bronchiectasis present in later life
  • Rhinosinusitis: Nasal polyps and chronic sinusitis, which may also present with chronic cough
  • Chronic otitis media with recurrent acute otitis media is present in childhood and adolescence.
  • Fertility: Men often have living but immotile spermatozoa, which results in infertility, although some have motile spermatozoa and immotile cilia, while others are azoospermic - women may also have decreased fertility, with fewer than 50 percent successful pregnancy completions.


Evaluation again is based on the presenting complaint and a high index of suspicion. The chest X-ray may show hyperinflated lungs with peribronchial thickening and bronchiectasis in the lower bases. However, a CT scan is more sensitive than a chest X-ray to assess the lung and may reveal alveolar damage and cystic bronchiectasis, which are more significant in the lower lung fields. Plain X-rays of maxillary and frontal sinuses may show central opacification.

Pulmonary function tests will reveal mild airflow obstruction in the smaller airways. In a patient with compatible clinical features, confirmation of the diagnosis is possible with genetic testing that shows homozygosity or compound heterozygosity.

Young syndrome requires differentiation from cystic fibrosis (CF), which can present with similar features. While Young syndrome more often presents in males, CF presents equally in either sex. In Young syndrome, chronic sinusitis is the predominant pulmonary abnormality, while in CF, there is progressive bronchiectasis due to recurrent lung Infections and colonization, especially with Pseudomonas. Spermatogenesis is affected in CF patients with abnormal sperm histology.

The diagnostic basis is on the occurrence of recurrent sinopulmonary infections, persistent azoospermia but normal spermatogenesis, and the exclusion of cystic fibrosis and immotile-cilia syndrome.

Treatment / Management

There is no cure for Young syndrome, and the treatment is to control bacterial infection with antibiotics.  Inhaled albuterol and hypertonic saline may help open the blocked airway and loosen mucus in it. 

The precise management of the sequelae of the disease is not known, so recommendations are based on experience in treating patients with cystic fibrosis and other similar conditions. The treatment must be individualized depending upon the clinical course of a given patient.[10][11]

  • Bronchiectasis — Clearing the secretions and reducing the microbial load with antibiotics are the mainstay of preventive therapy.  Daily chest physiotherapy is important in compensating for the diminished or absent mucociliary clearance; additionally, other airway clearance techniques available merit consideration. Antitussive and mucolytic agents are useful for cough and sputum.[11][12][13] Vaccination against influenza and pneumococcus is advisable.
  • Surgical intervention to remove an area of bronchiectasis is very rarely recommended due to the risks of the procedure and the possibility of developing bronchiectasis in other lung areas.[14]
  • Chronic rhinosinusitis and nasal polyposis: Medical management of these conditions is by antibiotic therapy, nasal saline lavage, and intranasal glucocorticoids for nasal polyposis.
  • Surgical interventions for chronic sinusitis and nasal polyposis may be recommended in a subset of patients not responding to medical management.
  • Otitis media with effusion (OME): Chronic OME is common in children and adolescents, leading to hearing loss.[11][15] Tympanostomy tubes improve hearing loss, at least temporarily.[16] Conductive hearing loss and associated speech delays should undergo assessment in childhood, and hearing aids prescribed, if necessary.[15]
  • Impaired fertility: Semen analysis should be offered to the patient. In-vitro fertilization techniques, principally intracytoplasmic sperm injection, have been shown effective in this setting.

Female patients of child-bearing age should be informed about the possibility of reduced fertility and rarely increased risk of ectopic pregnancy.[17]

Chest radiographs(CXR) help evaluate changes in respiratory symptoms but are relatively insensitive measures of bronchiectasis. High-resolution computed tomography (HRCT) is more sensitive than conventional CXR for detecting early airway and lung parenchymal changes. It is typically performed in advanced and worsening disease that does not respond to initial management.[18]

Differential Diagnosis

  • Cystic fibrosis
  • Bronchiectasis
  • Kartagener syndrome
  • COPD


Patients with Young syndrome generally live an active life with a normal lifespan. The rate of lung function decline is slower than with cystic fibrosis. However, repeated infections like sinusitis may prove frustrating and negatively influence the quality of life. The lung function variation is not related to the age at the time of diagnosis.[19][20]


Potential complications from Young syndrome include:

  • Chronic and/or recurrent respiratory, sinus, and ear infections
  • Infertility

Deterrence and Patient Education

Smoking cessation is of paramount importance to prevent lung parenchymal damage, and the patient should receive rigorous counseling to stop this habit if present.

Pearls and Other Issues

In the last several years, microsurgical techniques have been developed to restore fertility in patients with Young syndrome. The blockage in the epididymis is removed and followed by an anastomosis. Unfortunately, even with meticulous surgery, the thick, viscous secretions slow down sperm movement.

Enhancing Healthcare Team Outcomes

Young syndrome is a rare disorder with a classic presentation. An interprofessional team, including a pulmonologist, urologist, internist, gynecologist, infectious disease expert, geneticist, and nurse practitioner, is ideal for managing these patients. Because of recurrent infections, these patients need long term follow-up. 

It is important to diagnose the disorder to prevent complications promptly, and close follow-up of the patient is essential. It is also highly advisable to provide genetic counseling to other family members.

Article Details

Article Author

Sohaib Mohammed

Article Editor:

Arif Jan


12/22/2020 6:51:21 AM

PubMed Link:

Young Syndrome



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