Cytogenetic Studies in 236 Patients with Primary Amenorrhea

Yang,  Young-Ho; Kim,  Chang-Kyu; Choi,  Dong-Il; Cho,  Dong-Zae; Hwang,  Dong-Whun; Huh,  Gap-Bum

Original Article

Korean Journal of Fertility and Sterility 1986;13(2):153-159.

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

Abstract

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.