Volume 16, Issue 1 (January 2014) 16, 101–106; 10.4103/1008-682X.122192
Management of primary ciliary dyskinesia/Kartagener's syndrome in infertile male patients and current progress in defining the underlying genetic mechanism
Yan-Wei Sha, Lu Ding, Ping Li
Reproductive Medicine Center, Maternal and Child Health Hospital of Xiamen, Xiamen, China
Correspondence: Dr. P Li
Abstract |
Kartagener’s syndrome (KS) is an autosomal recessive genetic disease accounting for approximately 50% of the cases of primary ciliary dyskinesia (PCD). As it is accompanied by many complications, PCD/KS severely affects the patient’s quality of life. Therapeutic approaches for PCD/KS aim to enhance prevention, facilitate rapid defi nitive diagnosis, avoid misdiagnosis, maintain active treatment, control infection and postpone the development of lesions. In male patients, sperm fl agella may show impairment in or complete absence of the ability to swing, which ultimately results in male infertility. Assisted reproductive technology will certainly benefi t such patients. For PCD/KS patients with completely immotile sperm, intracytoplasmic sperm injection may be very important and even indispensable. Considering the number of PCD/KS susceptibility genes and mutations that are being identifi ed, more extensive genetic screening is indispensable in patients with these diseases. Moreover, further studies into the potential molecular mechanisms of these diseases are required. In this review, we summarize the available information on various aspects of this disease in order to delineate the therapeutic objectives more clearly, and clarify the effi cacy of assisted reproductive technology as a means of treatment for patients with PCD/KS-associated infertility.
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