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대한생식의학회지 제31권 제4호 2010년
클라인펠터 증후군 환자에서 착상전 유전진단의 결과
성균관대학교 의과대학 삼성제일병원 산부인과1, 불임연구실2, 유전학 연구실3, 비뇨기과4
김진영1, 임천규2,전진현2,박소연3,서주태4,차선화1,궁미경1,강인수
Outcome of Preimplantation Genetic Diagnosis in Patients with Klinefelter Syndrome
Jin Yeong Kim1, Chun Kyu Lim2, Jin Hyun Jun2, So Yeon Park3, Ju Tae Seo4,Sun Hwa Cha1, Mi Kyoung Koong1, Inn Soo Kang1
1Department of Obstetrics and Gynecology, 2Laboratory of Reproductive Biology and Infertility,3Laboratory of Genetics, 4Department of Urology, Samsung Cheil Hospital,Sungkyunkwan University School of Medicine
Objectives: Klinefelter syndrome is the most common genetic cause of male infertility and presents with 47,XXY mainly or 46,XX/47,XXY mosaicism. It is characterized by hypogonadism and azoospermia due to testicular failure, however, sporadic cases of natural pregnancies have been reported. With the development of testicular sperm extraction (TESE) and intracytoplasmic sperm injection (ICSI), sperm can be retrieved successfully and ART is applied in these patients for pregnancy. It has been suggested that the risk of chromosome aneuploidy for both sex chromosome and autosome is increased in the sperms from 47,XXY germ cells. Considering the risk for chromosomal aneuploidy in the offspring, preimplantation genetic diagnosis (PGD) could be applied as a safe and more effective treatment option in Klinefelter syndrome. The aim of this study is to assess the outcome of PGD cycles by using FISH for sex chromosome and autosome in patients with Klinefelter syndrome. Materials and Methods: From Jan. 2001 to Dec. 2003, PGD was attempted in 8 cases of Klinefelter syndrome but TESE was failed to retrieve sperm in the 3 cases, therefore PGD was performed in 8 cycles of 5 cases (four 47,XXY and one 46,XY/47,XXY mosaicism). In one case, ejaculated sperm was used and in 4 cases, TESE sperm was used for ICSI. After fertilization, blastomere biopsy was performed in 6~10 cell stage embryo and the chromosome aneuploidy was diagnosed by using FISH with CEP probes for chromosome X, Y and 17 or 18. Results: A total of 127 oocytes were retrieved and ICSI was performed in 113 mature oocytes. The fertilization rate was 65.3¡¾6.0% (mean¡¾SEM) and 76 embryos were obtained. Blastomere biopsy was performed in 61 developing embryos and FISH analysis was successful in 95.1% of the biopsied blastomeres (58/61). The rate of balanced embryos for chromosome X,Y and 17 or 18 was 39.7¡¾6.9%. The rate of aneuploidy for sex chromosome (X and Y) was 45.9¡¾5.3% and 43.2¡¾5.8% for chromosome 17 or 18, respectively. Embryo transfer was performed in all 8 cycles and mean number of transferred embryos was 2.5¡¾0.5. In 2 cases, clinical pregnancies were obtained and normal 46,XX and 46,XY karyotypes were confirmed by amniocentesis, respectively. Healthy male and female babies were delivered uneventfully at term. Conclusion: The patients with Klinefelter syndrome can benefit from ART with TESE and ICSI. Considering the risk of aneuploidy for both sex chromosome and autosome in the sperms and embryos of Klinefelter syndrome, PGD could be offered as safe and more effective treatment option.
키워드 : PGD, Klinefelter syndrome, Chromosome, TESE, ICSI
교신저자 : jinkim223@yahoo.co.kr
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