Cytogenetic and clinical analysis of 340 Chinese patients with primary amenorrhea.
OBJECTIVE
To analyze the relationship between karyotypes and clinic features of patients with primary amenorrhea.


METHODS
G banding was done for 340 patients with primary amenorrhea to facilitate individual chromosome identification, and if specific staining for certain portions of the chromosome was necessary, C banding was used. The clinical data were recorded by physical examination and ultrasound scanning.


RESULTS
Karyotype analysis of the 340 patients revealed that 180 (52.94%) patients had normal female karyotypes and 160 (47.06%) patients had abnormal karyotypes. The abnormal karyotypes included abnormal X chromosome (150 patients), mosaic X-Y chromosome (4 patients), abnormal autosome (5 patients), and X-autosome translocation (1 patient). The main clinical manifestations in patients with primary amenorrhea were primordial or absent uterus (95.9%), invisible secondary sex features (68.8%), little or absent ovary (62.6%), and short stature (30.0%). The incidence of short stature in patients with X chromosome aberration (46%, 69/150) was significangly higher that in patients with 46, XX (9.44%, 17/180) as well as 46, XY (6.67%, 3/45; Chi square = 146.25, P=0.000). All primary amenorrhea patients with deletion or break-point at Xp1 1.1-11.4 were short statures.


CONCLUSIONS
One of the main reasons of primary amenorrhea is choromosome abnormality, especially heterosome abnormality. It implies the need to routinely screen chromosomal anomalies for such patients. There might be relationship between Xp1 1.1-11.4 integrity and height improvement.
Department of Obstetric and Gynecology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China.
Hong
H
Yu
Xun-min
XM
Bian
Jun-tao
JT
Liu
Na
N
Hao
Jing
J
Zhou
Shan-ying
SY
Liu
D059786:Abnormal Karyotype; D000293:Adolescent; D000328:Adult; D000568:Amenorrhea / Q000235:genetics* / Q000473:pathology*; D044466:Asian People; D002869:Chromosome Aberrations; D041321:Chromosomes, Human, X / Q000235:genetics; D041322:Chromosomes, Human, Y / Q000235:genetics; D005260:Female; D006801:Humans; D059785:Karyotype; D055815:Young Adult