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Korean Journal of Fertility and Sterility 1986;13(2):153-159.
Cytogenetic Studies in 236 Patients with Primary Amenorrhea
Young-Ho Yang1, Chang-Kyu Kim1, Dong-Il Choi1, Dong-Zae Cho1, Dong-Whun Hwang1, Gap-Bum Huh2
1Department of Obstetrics and Gynecology, College of Medicine, Yonsei University
2Internal Medicine, College of Medicine, Yonsei University
원발성 무월경 환자에 이어서 세포유전학적 연구
양영호1, 김창규1, 최동일1, 조동제1, 황동훈1, 허갑범2
1연세대학교 의과대학 산부인과학교실
2연세대학교 의과대학 내과학교실
The high rate of chromosomal abnormalities in patients with primary amenorrhea implies the need for routine screening for chromosomal abnormalities among such patients. This study was designed for the cytogenetic analysis of 236 patients with primary amenorrhea, which was referred to Yonsei University Medical Center, from January, 1, 1974 to December, 31, 1985. The results were as follows: 1. Of the 236 patients, 145 cases (61.4%) showed normal karyotype, and 91 cases (38.6%) showed chromosomal abnormalities. 2. Gonadal dysgenesis was found in 56 cases, consisting of 42 cases, Turner's syndrome, 12 cases, pure gonadal dysgenesis, and 2 cases mixed gonadal dysgenesis. a) Turner's syndrome was found in 42 cases, consisting of 18 cases of 45, X and 24 cases of mosaicism. b) Pure gonadal dysgenesis was found in 12 cases, consisting of 10 cases of 46, XX and 2 cases of 46, XY. c) Mixed gonadal dysgenesis was found in 2 cases, consisting of 1 case of 46, XY and 1 case of 45, X/46, XY. 3. Intersex was found in 80 cases, consisting of 35 cases of 46, XX, and 45 cases of 46, XY. 4. Congenital anomalies of reproductive system was found in 82 cases and all cases were normal karyotype.


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