迈耶-罗基坦斯基-库斯特-豪泽综合征与特纳综合征并存：一例报告
Coexistence of Mayer-Rokitansky-Küster-Hauser Syndrome and Turner Syndrome: A Case Report.
作者信息
Białka Agnieszka, Gawlik Aneta, Drosdzol-Cop Agnieszka, Wilk Krzysztof, Małecka-Tendera Ewa, Skrzypulec-Plinta Violetta
机构信息
School of Health Sciences in Katowice, Medical University of Silesia, Katowice, Poland.
Department of Pediatrics and Pediatric Endocrinology, Medical University of Silesia, School of Medicine in Katowice, Katowice, Poland.
出版信息
J Pediatr Adolesc Gynecol. 2016 Apr;29(2):e35-8. doi: 10.1016/j.jpag.2015.10.019. Epub 2015 Oct 30.
BACKGROUND
Turner syndrome is a common chromosomal disorder, with an incidence of 1 in 2000 live-born female infants. Mayer-Rokitansky-Küster-Hauser syndrome (MRKH) affects 1 in 4500 female births and, rarely, it might be associated with gonadal dysgenesis.
CASE
A 17-year-old girl was referred to our clinic with short stature and primary amenorrhea. The patient was diagnosed with Turner syndrome and underwent estrogen therapy. At the age of 24 years, just after the patient's sexual initiation, the first complete gynecological examination was performed. A blind-ending vagina was revealed and the patient was diagnosed with MRKH.
SUMMARY AND CONCLUSION
Early diagnosis of coexistence of MRKH and Turner syndrome, although very difficult, might prevent patients from developing serious complications.
背景
特纳综合征是一种常见的染色体疾病，在活产女婴中的发病率为1/2000。迈耶-罗基坦斯基-库斯特-豪泽综合征（MRKH）在女性出生中的发病率为1/4500，并且很少情况下可能与性腺发育不全有关。
病例
一名17岁女孩因身材矮小和原发性闭经转诊至我院。该患者被诊断为特纳综合征并接受了雌激素治疗。在24岁时，就在患者开始有性行为后，进行了首次全面的妇科检查。发现阴道盲端，该患者被诊断为MRKH。
总结与结论
MRKH与特纳综合征共存的早期诊断虽然非常困难，但可能会防止患者出现严重并发症。
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