Itu M, Neelam T, Ammini A C, Kucheria K
Department of Anatomy, All India Institute of Medical Sciences, Ansari Nagar, New Delhi.
Aust N Z J Obstet Gynaecol. 1990 Nov;30(4):386-8. doi: 10.1111/j.1479-828x.1990.tb02039.x.
The incidence of trisomy X in the newborn population is estimated to be 1 in 1,000 liveborn females. Most of them have normal physical appearance and puberty. Therefore, the reported number of triple X females in the literature is low. We herein report one patient with triple X chromosomes, primary amenorrhoea and normal intelligence. Steroid hormonal levels, clinical and ultrasound findings were suggestive of ovarian failure/gonadal dysgenesis. This case emphasizes the need for chromosomal analysis in women presenting with premature ovarian failure leading to primary or secondary amenorrhoea.
据估计,新生儿人群中X三体综合征的发病率为每1000名活产女性中有1例。她们中的大多数身体外观和青春期发育正常。因此,文献中报道的XXX女性数量较少。我们在此报告1例具有三条X染色体、原发性闭经且智力正常的患者。类固醇激素水平、临床及超声检查结果提示卵巢功能衰竭/性腺发育不全。该病例强调了对于出现导致原发性或继发性闭经的卵巢早衰女性进行染色体分析的必要性。