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Abstract：
Turner syndrome is a relatively common chromosomal abnormality presenting as primary amenorrhoea in gynaecological and endocrine clinics, caused by complete or partial X monosomy in some or all cells. Mayer-Rokitansky-Kuster-Hauser syndrome is another common cause of primary amenorrhoea characterised by Mullerian agenesis of varying degrees. We report a case of an 18-year-old girl, who presented with primary amenorrhoea, absence of secondary sexual characteristics and short stature. Hormonal profile confirms hypergonadotrophic hypogonadism. Karyotyping was consistent with Turner syndrome (45,XO). In addition, radiological imaging of the pelvis showed the absence of both ovaries as well as the uterus, cervix and vagina. This patient had therefore presented with two different syndromes as the cause of her primary amenorrhoea, which is extremely rare in a single patient. Moreover, oestrogen replacement therapy will trigger the development of secondary sexual characteristic and promote bone growth, but induction of menstruation and fertility is impossible.
摘要：
特纳综合征是一种比较常见的染色体异常，在妇科和内分泌诊所表现为原发性闭经。由一些或所有细胞中的完全或部分X一元性引起的。Mayer-Rokitansky-Kuster-Hauser综合征是原发性闭经的另一个常见原因，其特征是不同程度的穆勒发育不全。我们报告了一个18岁女孩的病例,出现原发性闭经的人，没有第二性征和身材矮小。激素谱证实了高促性腺激素性性腺功能减退。核型分析与特纳综合征（45，XO）一致。此外,骨盆的放射学成像显示卵巢和子宫都没有，宫颈和阴道。因此，这名患者出现了两种不同的综合征，作为她原发性闭经的原因，这在单个患者中极为罕见。此外，雌激素替代疗法会引发第二性征的发展，促进骨骼生长，但是月经和生育的诱导是不可能的。
