Young Syndrome: Genetic Disorder with Respiratory and Reproductive Manifestations

Introduction

The young syndrome is an uncommon, rare inherited syndrome associated with the triad of azoospermia, bronchiectasis, and chronic rhinosinusitis. This syndrome can be seen most commonly in middle-aged people, and the symptoms are similar to Kartagener syndrome. It is found to be rarely associated with mercury exposure. The incidence of Young syndrome decreased after the restrictions proposed for mercury usage. It is also referred to as sinusitis-infertility syndrome.

What Are the Clinical Features (Triad) Of Young Syndrome?

• Chronic Rhinitis: Recurrent or repeated infections of the nasal and paranasal sinuses refer to rhinosinusitis. It is a common condition that can result in the formation of nasal polyps.

• Bronchiectasis: Bronchiectasis refers to the pathological dilation of the airways in the lungs. Due to the increase in the size of the airways, damage occurs through the accumulation of bronchial secretions, overgrowth of bacteria, and the presence of inflammation and chronic lung diseases that may cause further damage to the bronchial walls.

• Obstructive Azoospermia: Spermatogenesis (formation of sperm cells) is very normal in the affected males. But a decreased fertility condition is caused due to obstructive azoospermia. In this, sperm cells are formed normally but are unable to reach the seminal fluid due to the obstruction in the genital tract. In Young’s syndrome, the sperm cells are present in the epididymis (tubules leading out of the testis) in a highly viscous thick fluid. Hence, no sperms are present during ejaculation resulting in infertility.

What Are the Causes of Young Syndrome?

• The exact causative factor involved in causing this syndrome is not known.

• Researchers suggest that this may occur due to exposure to mercury from the surrounding environments.

• Certain changes in the genetic factor may also be related to causing the syndrome.

What Are the Symptoms of Young Syndrome?

Various symptoms of the young syndrome include:

• Sinus infections.

• Lung infections.

• Infertility.

• Nasal cavity infections.

What Are the Physical Manifestations of Young Syndrome?

Various clinical manifestations of Young's syndrome are present, and these include:

• Pulmonary: In newborns, symptoms of respiratory distress are present, but the symptoms of bronchiectasis may manifest in later life.

• Ear: In both childhood and adolescence, chronic otitis media with the recurrent manifestations of acute otitis media is present.

• Rhinosinusitis: Patients with rhinosinusitis may present with nasal polyps, chronic cough, and chronic sinusitis.

• Infertility: Infertility in men may present with healthy living sperm but with immotile spermatozoa. Some are motile but have impaired cilia. In other cases, sperms are produced normally, but the movement is restricted through the physical obstruction in the genital duct (azoospermic). Women are also affected by fertility conditions as they are presented with decreased fertility.

What Are the Diagnostic Approaches for Young Syndrome?

The diagnosis is based on the correlation between the patient's complaints and history. The occurrence of recurrent sinus and pulmonary infections, normal spermatogenesis with azoospermic conditions, with the tests which exclude cystic fibrosis and immotile cilia syndrome confirms the diagnosis of the young syndrome. Various diagnostic methods are implemented for the confirmation of the disease, and these include:

• Imaging Studies:

  • Chest X-Ray: The chest X-ray may reveal hyperinflated (increase in the size of the lungs) lungs, bronchiectasis, and peribronchial thickening in the base of the lungs. The findings of central opacification are seen in the findings of normal X-rays of frontal and maxillary sinuses.

  • Computed Tomography (CT) Scan: The results obtained from computed tomography scans are more accurate and specific than from chest X-rays. It may show alveolar damage and cystic bronchiectasis, which can be more significantly seen in the lower lung fields.

• Pulmonary Function Tests: This test shows a mild obstruction of airflow in the smaller air passages.

• Other Tests:

  • Genetic Testing: Along with the presence of all clinical features, the confirmation of this condition can be done by performing genetic testing, which presents homozygosity or compound heterozygosity features.

  • Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Mutation Carrier Test: Since cystic fibrosis and Young syndrome symptoms are similar, a specific test called cystic fibrosis transmembrane conductance regulator (CFTR) mutation carrier testing is performed to differentiate Young syndrome from cystic fibrosis.

What Are the Preventive Measures for Young Syndrome?

• There are no specific preventive measures for Young’s syndrome.

• One of the measures that can be taken to prevent this syndrome is to avoid exposure to mercury during childhood.

What Are the Treatment Approaches for Young Syndrome?

• There is no complete cure for Young syndrome, but various treatment modalities are applied for the management of the underlying conditions.

• Antibiotics are prescribed to control bacterial infections. Saline and inhaled Albuterol are used to clear nasal passages by loosening up the mucus and by clearing the blocked airways.

• Bronchiectasis:

  • Antibiotics are used to clear the secretions and reduce microbial growth in the lungs.

  • Daily chest physiotherapy is recommended in the case of reduced or absence of mucociliary clearance.

  • Vaccination should be done for influenza and pneumococcus to prevent complications.

  • Mucolytic agents and antitussive agents are used for clearing cough and sputum.

  • Surgical management is recommended in rare situations to avoid the risk and the possibility of developing bronchiectasis in other lungs.

• Nasal Polyps and Chronic Rhinosinusitis -

  • Antibiotics are followed in the treatment of these chronic sinusitis conditions.

  • Intranasal glucocorticoids and nasal saline lavage are recommended for nasal polypoid.

  • In the case of failure of antibiotic therapy, surgical procedures are recommended.

• Infertility - Semen analysis is done as a primary step. Specific in-vitro fertilization techniques, such as intracytoplasmic sperm injection, proved very effective in these conditions. Surgical interventions include microsurgical reconstruction of the vas and epididymis or transurethral resection of the ejaculatory ducts (TURED). A surgical attempt to ablate the obstruction in the epididymis includes vasoepididymostomy and associated reproduction procedures include intracytoplasmic sperm injection (ICSI).

Conclusion:

Patients with the young syndrome appear to be more healthy and live a normal lifespan. However, the declination of lung function is comparatively slower than in cystic fibrosis. The recurrence of infections may impact the quality of life and negatively influence the standard of life. The impairment of lung function is not based on the age at the diagnosis.