Phenotypic and clinical aspects of Mayer-Rokitansky-Küster-Hauser syndrome in a Chinese population: an analysis of 594 patients

When the phenotypic and clinical aspects of a large cohort of 623 Chinese patients affected by Mayer-Rokitansky-Kuster-Hauser syndrome was analyzed, a low associated malformation rate was found.

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Volume 106, Issue 5, Pages 1190-1194

Authors:

Hong-xin Pan, M.D., Guang-nan Luo, M.D.

Abstract:

Objective

To analyze the phenotypic and clinical aspects of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome.

Design

Cross-sectional study.

Setting

University hospital.

Patient(s)

Five hundred and ninety-four patients with MRKH syndrome.

Intervention(s)

Clinical examination, abdominal or perineal/rectal ultrasound, magnetic resonance imaging, hormonal profile, karyotype, and laparoscopy.

Main Outcome Measure(s)

Clinicopathologic data, VCUAM (vagina cervix uterus adnex-associated malformation) classification, types with cycle phase, and karyotype.

Result(s)

We identified associated malformations in 43 out of 594 (7.2%) cases of MRKH. The 594 patients could be grouped into hormone phases: 53.7% follicular, 35.2% luteal, and 11.1% ovulatory. The major karyotype of MRKH patients was 46,XX; abnormal karyotypes were found in two cases.

Conclusion(s)

A lower proportion of associated malformations were found when compared with those provided in the current literature. Renal anomalies were the most frequent associated malformations, and most of the patients presented with a normal karyotype. Given the large cohort of this study, the lower malformation rates might be related to geographic or referral patterns, so further investigation is warranted.


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Fertility and Sterility

Editorial Office, American Society for Reproductive Medicine

Fertility and Sterility® is an international journal for obstetricians, gynecologists, reproductive endocrinologists, urologists, basic scientists and others who treat and investigate problems of infertility and human reproductive disorders. The journal publishes juried original scientific articles in clinical and laboratory research relevant to reproductive endocrinology, urology, andrology, physiology, immunology, genetics, contraception, and menopause. Fertility and Sterility® encourages and supports meaningful basic and clinical research, and facilitates and promotes excellence in professional education, in the field of reproductive medicine.

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