原發性無月經症合併X染色體異常

CASE REPORT: The CASE REPORT: The 19-year-old female patient presented with primary amenorrhea. She is 170 cm tall and 67kg in weight. Both Tanner classifications of thelarche and pubarche were stage II. The uterus and bilateral adnexa were small on a trans-abdominal ultrasound. Phyiscal examination found infantile vulva and normal hymen. The laboratory findings were as follows: follicle-stimulating hormone 35.68  mIU/ml; luteinizing hormone 12.14 mIU/ml; estradiol 17 pg/ml. Genetic investigation revealed a 46,X, der (X )(Xq21). The chromosomes of her parents are all  normal. The chromosomal abnormality is a de novo change. CONCLUSION: In young women with primary amenorrhea, the single most common cause is primary ovarian failure due to gonadal dysgenesis. The largest number of patient with primary amenorrhea and ovarian failure has Turner’s syndrome, followed by 46,XX and rarely 46, XY. Cytogenetic study is important in management of patients with primary amenorrhea.