一例46, XX性反转综合征病例报告
A Case Report of 46, XX Sex Reversal Syndrome.
作者信息
Wang Kangying, Lin Hua, Tu Haijian, Xu Qing, Xu Guanghui
出版信息
Clin Lab. 2018 Oct 1;64(10):1765-1767. doi: 10.7754/Clin.Lab.2018.180529.
BACKGROUND
Sex reversal syndrome (SRS) is a human chromosomal abnormality disease with gender dysplasia, which is characterized by inconsistency between social sexuality and genetic sexuality.
METHODS
We report a case of sex reversal syndrome with 46, XX. Chemiluminescence was used to detect serum sex hormones, including testosterone (T), luteinizing hormone (LH), and follicular stimulation (FSH), and 15 karyotype analysis.
RESULTS
The levels of FSH and LH in serum were high, and the level of T in serum was low. The karyotype analysis showed that the nuclear type of the patient was 46, XX. The examination of the sex-determining region Y (SRY) gene showed positive results.
CONCLUSIONS
The main principle of diagnosing the 46, XX male SRS is early determination of chromosome, gonad, and genitalia gender. When the prenatal ultrasound diagnosis of pregnant women is inconsistent with the results of cytogenetics, caution should be taken to avoid the birth of children with 46, XX male SRS.
背景
性反转综合征（SRS）是一种伴有性别发育异常的人类染色体异常疾病，其特征为社会性别与遗传性别不一致。
方法
我们报告一例46, XX性反转综合征病例。采用化学发光法检测血清性激素，包括睾酮（T）、黄体生成素（LH）和卵泡刺激素（FSH），并进行15次核型分析。
结果
血清中FSH和LH水平较高，血清中T水平较低。核型分析显示患者核型为46, XX。性别决定区Y（SRY）基因检测结果为阳性。
结论
诊断46, XX男性性反转综合征的主要原则是早期确定染色体、性腺和生殖器性别。当孕妇产前超声诊断结果与细胞遗传学结果不一致时，应谨慎处理，避免46, XX男性性反转综合征患儿出生。
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