Afshan Anjum
Department of Obstetrics & Gynaecology, Ziauddin Medical University, Karachi, Pakistan.
J Pak Med Assoc. 2012 Apr;62(4):392-4.
Triple X syndrome 47XXX is a sex chromosome abnormality characterized by presence of an extra X chromosome. Most of the girls born with triple X chromosomes have no signs or symptoms at birth. The condition often remains undiagnosed until adulthood when the genetic defect is discovered on investigation for other reasons as in this case of a young girl who presented with primary amenorrhoea. Clinical examination was unremarkable and diagnosis was made on chromosomal analysis. She later started having a spontaneous menstrual cycle but prognosis regarding future fertility is guarded.
三倍体X综合征（47，XXX）是一种性染色体异常疾病，其特征是多了一条X染色体。大多数患有三倍体X染色体的女孩在出生时没有任何体征或症状。这种情况通常在成年期才被诊断出来，就像这个患有原发性闭经的年轻女孩一样，因其他原因进行检查时才发现这种基因缺陷。临床检查无异常，通过染色体分析做出诊断。她后来开始有自发月经周期，但关于未来生育能力的预后情况不容乐观。
