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Volume 8, Issue 4 (July 2006) 8, 483–487; 10.1111/j.1745-7262.2006.00156.x
Erectile dysfunction in Fragile X patients
Feng Gu, Hai-Yin Zhang, Shao-Yi Hu, Shang-Zhi Huang, Xu Ma and Yong-Qing Zhang
1.Department of Genetics, National Research Institute for Family Planning, Beijing 100081, China
2.Peking Union Medical College, Beijing 100081, China
3.Key Laboratory of Molecular and Developmental Biology, Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, Beijing 100080, China
4.Graduate School, Chinese Academy of Sciences, Beijing 100080, China
5.Department of Medical Genetics, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences, Beijing 100005, China
6.Department of Reproductive Genetics, WHO Collaborative Center for Research in Human Reproduction, Beijing 100081, China
Correspondence: Dr Yong-Qing Zhang, Key Laboratory of Molecular and Developmental Biology, Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, 3 Nan-Yi-Tiao, Zhong Guan Cun, Beijing 100080, China. Fax: +86-10-6255-1951. E-mail: yqzhang@genetics
Received 7 December 2005; Accepted 28 February 2006
| Abstract |
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Aim: To study a possible defect in spermatogenesis of Fragile X syndrome (FXS) patients.
Methods: Two different polymerase chain reaction (PCR) based methods were used for the molecular diagnosis of FXS. Sperm collection was done mostly according to the laboratory manual of the World Health Organization.
Results: We failed to collect sperm samples from five Fragile X subjects aged 18–60 years as a result of an unexpected erectile dysfunction (ED). Multiple examinations of the same subject at different times, and of different subjects from different provinces by different physicians, showed the same result consistently in all five subjects examined.
Conclusion: Erectile reflex is an instinctive response in all healthy males. The absence of erection can be caused by hormonal, physical or neuronal malfunction. As hormonal profiles were reported to be generally normal in Fragile X men, we propose that an unknown physical factor or the neuronal circuit, or both, underlying the erection is compromised. The finding of ED in Fragile X patients may help better understand the clinical spectrum and pathogenesis of the disease.
Keywords: Fragile X syndrome, FMR1 gene, macroorchidism, erection, fertility, erectile dysfuncion
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