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Abstract

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.

Full Text | PDF | PDF | 中文摘要 |

 
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Asian Journal of Andrology CN 31-1795/R ISSN 1008-682X  Copyright © 2023  Shanghai Materia Medica, Chinese Academy of Sciences.  All rights reserved.