Korean J Obstet Gynecol.  1999 Apr;42(4):814-820.

Cytogenetic Study of Primary Amenorrhea


To determine the frequency of chromosomal or genetic causes of primary amenorrhea and elucidate the etiology of disorder in those patients whose chromosomes showed normal.
Forty-nine patients with primary amenorrhea were evaluated as to age, family and disease histories, bodily strangenes existence, karyotype, endogenuous hormones, antiphospholipid antibody and antinuclear antibody, which were referred to Department of Obstetrics and Gynecology, Chungnam National University Hospital from Jan. 1990 to Dec. 1997.
The most common age was 18-20 years old and the frequency was 41%. Of 49 cases, 26 cases[53.1%] had normal karyotype and 23 cases[46.9%] showed chromosomal abnormality, including 2 cases of 46,XY. Of 21 cases with cytogenetic abnormalities, 8 cases[16.2%] showed 45,X; 5 cases[10.2%] with 46,X,i[Xq]; 3 cases[6.0%] 45,X/46,XY; 1 case[2.1%], 46,XX/46,XY; 1 case[2.1%], 45,X/46,X,i[Xq]; 1 case[2.1%] 45,X/47,XXX; 1 case[2.1%], 46,X,del[X][p11.2]; 1 case[2.1%] 45,X/46,X,r[X][p22q28]. Two cases were 46,XY constitution. One woman with 45,X/46,XY had mixed germ cell tumor[gonadoblastoma and endodermal sinus tumor] on gonadectomy, treated by chemotherapy in six cycles. Two women with 46,XY were pure gonadal dysgenesis. Of 26 women with 46,XX constitution, 9 cases[18.4%] were ovarian failure, 8 cases[16.3%] were congenital absence of vagina, and 5 cases[10.2%] were hypothalamus-pituitary failure.
Because the many patients of primary amenorrhea had the various cytogenetic abnormalities, the chromosomal analysis is needed as a primary tool in the evaluation of primary amenorrhea.


Primary amenorrhea; Karyotype; Ovarian failure
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