ORIGINAL ARTICLE
Cytogenetic and Clinical Analysis of 340 Chinese Patients with Primary Amenorrhea

https://doi.org/10.1016/S1001-9294(11)60042-4Get rights and content

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; χ2=146.25, P=0.000). All primary amenorrhea patients with deletion or break-point at Xp11.1-11.4 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 Xp11.1-11.4 integrity and height improvement.

References (17)

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Cited by (5)

  • Frequency and pattern of cytogenetic alterations in primary amenorrhea cases of Kashmir, North India

    2016, Egyptian Journal of Medical Human Genetics
    Citation Excerpt :

    Duplication results in partial trisomy of the chromosomal segment that is duplicated and trisomy of the genes present in that particular segment. In primary amenorrhea cases Xp/q chromosome duplications have been reported by many studies [3,23]. However, evidence suggests that duplication 2q31 has not been reported so far in primary amenorrhea cases making it a unique one.

The author now works at the Reproduction Center, Hunan Provincial Maternal and Child Health Hospital, Changsha, China.

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