男性不孕症是否為遺傳性疾病? 兄弟與父子的經驗分析
許自翔1、黃志賢1,2,3、林登龍1,2,3
1臺北榮民總醫院 泌尿部
2國立陽明大學 醫學院 泌尿學科；3書田泌尿科學研究中心
Is Male Infertility a Hereditary Disease?
Our Experience from Brothers and Offspring
Tzu-Hsiang Hsu1, William J.S. Huang1,2,3, Alex T.L. Lin1,2,3
1Department of Urology, Taipei Veterans General Hospital, Taipei, Taiwan
2Department of Urology, School of Medicine, and 3Shu-Tien Urological Science Research Center, National Yang-Ming University
Purpose: Male factor infertility is present in half of infertile couples. The three most common genetic causes of male infertility are Y chromosome microdeletions, mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene and karyotype abnormalities. Theoretically, the Y chromosome microdeletions will be inherited by male offspring but the extent of spermatogenic disturbance is not predictable. We aimed to analyze our biological related patients with infertility.
Materials and Methods: We retrospectively reviewed electronic medical records from patients who visited urology clinic for male infertility and received test for chromosomal abnormalities and Y chromosome microdeletions at Taipei Veterans General Hospital from 2006 to 2017. Five AZFc-specific sequence tagged sites (sY1191, sY1291, sY1206, sY1201, sY1161) were also screened. Some patients’ fathers or brothers were invited to undergo examination at our hospital.
Results: Totally 20 people out of 1356 (1.5%) were collected from our database. Fourteen patients with a mean age of 33.9 ± 2.1 years visited our clinic for male infertility and six people (patient’s fathers or brothers) received genetic screening without infertility. There were 3 pairs of twins in this study and causes of infertility were Klinefelter syndrome (47, XXY), AZFc microdeletions and idiopathic. Four fertile fathers had the same Y chromosome microdeletions/AZFc-specific sequence tagged sites as their infertile sons in this study. The frequencies of AZFc-specific sequence tagged site deletions were sY1191 (67%), sY1291 (67%), sY1206 (33%), sY1201 (0%), and sY1161 (11%). Only one AZFc patient’s father was found to have no Y chromosome abnormality.
Conclusions: The Y chromosome microdeletions will be transmitted to male offspring and may be related to infertility. With the advance of assisted reproductive technologies, the offspring with Y chromosome microdeletions will increase and further follow-up is necessary.