Sinusitis-infertility syndrome

=Sinusitis-Infertility Syndrome = Sinusitis-Infertility Syndrome is a rare genetic disorder characterized by the combination of chronic sinusitis and infertility. This condition is often associated with Primary Ciliary Dyskinesia (PCD), a disorder that affects the motility of cilia, which are hair-like structures that line the respiratory tract, reproductive system, and other parts of the body.

Etiology

The underlying cause of Sinusitis-Infertility Syndrome is typically linked to defects in the structure or function of cilia. These defects are often due to mutations in genes responsible for ciliary function, such as the DNAH5 and DNAI1 genes. These mutations lead to impaired ciliary movement, which affects the clearing of mucus from the respiratory tract and the movement of sperm in males, leading to infertility.

Clinical Features

Patients with Sinusitis-Infertility Syndrome often present with:

• Chronic Sinusitis: Persistent inflammation of the sinuses, leading to symptoms such as nasal congestion, facial pain, and recurrent sinus infections.
• Infertility: In males, infertility is often due to immotile sperm, while females may experience reduced fertility due to impaired ciliary function in the fallopian tubes.
• Respiratory Issues: Chronic cough, recurrent respiratory infections, and bronchiectasis may also be present.

Diagnosis

Diagnosis of Sinusitis-Infertility Syndrome involves a combination of clinical evaluation, genetic testing, and specialized tests to assess ciliary function. These may include:

• Nasal Nitric Oxide Measurement: Low levels of nasal nitric oxide are indicative of PCD.
• High-Speed Video Microscopy: To observe ciliary beat frequency and pattern.
• Genetic Testing: To identify mutations in genes associated with ciliary dysfunction.

Management

Management of Sinusitis-Infertility Syndrome focuses on alleviating symptoms and improving quality of life. Treatment strategies may include:

• Antibiotics: To treat and prevent respiratory infections.
• Nasal Irrigation: To help clear mucus from the nasal passages.
• Fertility Treatments: Assisted reproductive technologies such as In Vitro Fertilization (IVF) may be considered for individuals facing infertility.

Prognosis

The prognosis for individuals with Sinusitis-Infertility Syndrome varies depending on the severity of symptoms and the effectiveness of management strategies. With appropriate treatment, many individuals can lead relatively normal lives, although they may require ongoing medical care to manage respiratory symptoms and fertility issues.

See Also

• Primary Ciliary Dyskinesia
• Kartagener Syndrome
• Chronic Sinusitis
• Bush, A., & Chodhari, R. (2016). Primary ciliary dyskinesia: current state of the art. Archives of Disease in Childhood, 101(8), 732-738.
• Lucas, J. S., et al. (2014). Primary ciliary dyskinesia in adults: current management, challenges and future perspectives. Expert Review of Respiratory Medicine, 8(4), 427-439.

NIH genetic and rare disease info

• NIH info on Sinusitis-infertility syndrome

Sinusitis-infertility syndrome is a rare disease.