1臺北榮民總醫院 泌尿部 2國立陽明大學醫學系泌尿學科3書田泌尿科學研究中心
The effect of autosomal genetic abnormalities on fertility outcome in infertile men
Chia-Hung Chen1, William J.S. Huang 1,2,3, I-Shen Huang1,2,3, Alex T. L. Lin1, 2,3, Kuang-Kuo Chen1, 2,3
1 Department of Urology, Taipei Veterans General Hospital
2 Department of Urology, School of Medicine, 3Shu-Tien Urological Science Research Center,
National Yang-Ming University
Purpose: To investigate the general characteristics of infertile males with autosomal genetic abnormalities and discuss the effect of autosomal genetic abnormalities on spermatogenesis.
Materials and Methods: Totally 26 of 850 infertile males had autosomal genetic abnormalities were studied for the clinical characteristics, including levels of LH, FSH, testosterone, prolactin and testicular volume at physical examination. The other 109 age-matched NOA patients with normal karyotyping were selected as control group. The sperm retrieval rate, pregnancy rate were compared between these two groups.
Results: The prevalence of sex chromosomal abnormalities was 29.6 % (252/850). Among them, Klinefelter syndrome (46, XXY) was 6.4% (55/850). The independent autosomal chromosomal abnormalities was 3% (26/850), including 17 were azoospermia (14 were with NOA). In 14 NOA patients, 9 had received microdissection testicular sperm extraction (micro-TESE). The sperm retrieval rate was 22.2 % in patients with NOA and autosomal chromosomal abnormalities, while it was 27.8% for the controlled NOA group. The other 9 of this 26 patients were with oligoasthenoteratozoospermia (OAT syndrome). The most frequently seen autosomal chromosomal abnormality is increase in lengths of the stalks on the short arm of chromosome (pstk+) (n=7), followed by translocation (n=6). There was a significant increase in serum FSH levels and decrease in testicular volume when comparing azoospermic patients with the NOA control (p<0.05).
Conclusion: This study provides a recent experience in a tertiary hospital. The result showed that infertile NOA males with normal karyotypting are prone to have smaller testicles and higher serum FSH levels when comparing to the group with autosomal chromosomal abnormalities, but it seems to have better sperm retrieval rates.