Kartagener Syndrome and Infertility in a Young Woman: A Case Report Ivelin Vaskov , Marina Boneva 1. Radiology, Kanev, Ruse, BGR 2. Pulmonology, SHATPPD, Ruse, BGR Corresponding author: Ivelin Vaskov, mdvascov@gmail.com Abstract Kartagener syndrome is a rare genetic disorder that affects multiple organs, including the respiratory system and reproductive organs. Here, we present a case of a 36-year-old woman with a history of asthma and infertility who was diagnosed with Kartagener syndrome. The patient's clinical presentation, diagnostic workup, and treatment are discussed. Our report highlights the importance of recognizing Kartagener syndrome as a potential cause of infertility in young women. Categories: Obstetrics/Gynecology, Radiology, Pulmonology Keywords: radiology, young woman, asthma, infertility, kartagener syndrome Introduction Kartagener syndrome is a rare disorder with an incidence of approximately 1 in 30,000 to 40,000 live births. It is an autosomal recessive disorder, which means that an individual must inherit two copies of the defective gene (one from each parent) to develop the condition. It occurs equally in males and females and is more commonly diagnosed in childhood, although it can also present in adulthood. Kartagener syndrome has been reported worldwide and affects individuals of all ethnicities. It is caused by mutations in genes involved in the structure and function of cilia, hair-like structures that line the respiratory tract and reproductive organs. Infertility is a common complication of Kartagener syndrome due to abnormalities in ciliary function in the reproductive tract [1]. Here, we present a case of a young woman with a history of asthma and infertility who was diagnosed with Kartagener syndrome. Case Presentation A 36-year-old woman presented to our clinic with a chief complaint of infertility. She reported experiencing difficulty conceiving for 2 years despite regular sexual intercourse. She had no history of sexually transmitted infections, endometriosis, or other known causes of infertility. She had a past medical history significant for asthma, for which she had been taking inhaled corticosteroids and a bronchodilator as needed. She had also been experiencing chronic cough and recurrent respiratory infections. Physical examination revealed no abnormal findings except for situs inversus totalis. Chest radiography and computed tomography (CT) scan of the chest revealed bilateral bronchiectasis (Figure 1) and situs inversus (Figure 2). High-resolution CT also revealed dextrocardia, sinusitis, and middle ear effusion. After a thorough workup, including genetic testing, the patient was diagnosed with Kartagener syndrome due to a mutation in the DNAH5 gene. This protein is involved in the movement of cilia. Mutations in DNAH5 disrupt ciliary function and lead to the characteristic features of Kartagener syndrome [2]. The patient's infertility was attributed to abnormal ciliary function in the reproductive tract, a common complication of Kartagener syndrome. Treatment with antibiotics (amoxicillin/clavulanic acid and azithromycin) improved the patient's symptoms, and the patient was referred to a fertility specialist for further management. The fertility specialist recommended in vitro fertilization (IVF) with intracytoplasmic sperm injection (ICSI) due to the patient's male partner's low sperm count. The patient successfully underwent IVF-ICSI and delivered a healthy baby boy. She continues to be followed regularly by a pulmonologist and otolaryngologist for her respiratory symptoms and by a fertility specialist for ongoing management of her infertility. 1 2 Open Access Case Report How to cite this article