Department of Internal Diseases, Pneumology and Allergology, University Clinical Center, Medical University of Warsaw, Warsaw, Poland.
Międzyleski Specialist Hospital in Warsaw, Warsaw, Poland.
Gynecol Endocrinol. 2021 Jun;37(6):572-575. doi: 10.1080/09513590.2021.1921139. Epub 2021 May 7.
The aims of the presented case report are to emphasize the importance of a proper diagnostics and treatment in the case of the coexistence of Klinefelter syndrome (KS, 47 XXY) and complete androgen insensitivity syndrome (CAIS). Since there is no causal treatment it is necessary to provide the patient with a good quality of life, including psychological and sexological support.
The presented case report is the retrospective analysis of the patient's medical history over the 3 years.
At the age of 15, the patient was directed to genetic testing due to primary amenorrhea. The results of the patient showed an incorrect male karyotype with the SRY gene present (47, XXY). A molecular diagnostics revealed a very rare variant of the androgen receptor (AR) mutation responsible for tissue insensitivity to androgens. The detected mutation has not been described in the available databases so far. Following a diagnosis of the presence of Klinefelter syndrome (KS, 47 XXY) together with complete androgen insensitivity syndrome (CAIS), the patient underwent a bilateral gonadectomy.
In women with KS and CAIS physiological reproduction and maintenance of normal sex, hormone levels are not possible. A gonadectomy is performed due to the risk of malignant testicular tumors.
本病例报告的目的是强调在克氏综合征（47，XXY）和完全雄激素不敏感综合征（CAIS）共存的情况下，正确诊断和治疗的重要性。由于没有因果治疗，有必要为患者提供高质量的生活，包括心理和性健康支持。
本病例报告是对患者 3 年来病史的回顾性分析。
15 岁时，由于原发性闭经，患者被转介进行基因检测。患者的结果显示存在异常的男性核型，SRY 基因存在（47，XXY）。分子诊断显示雄激素受体（AR）突变非常罕见，导致组织对雄激素不敏感。迄今为止，尚未在现有数据库中描述检测到的突变。在诊断为克氏综合征（KS，47 XXY）合并完全雄激素不敏感综合征（CAIS）后，患者接受了双侧性腺切除术。
在患有 KS 和 CAIS 的女性中，无法进行生理性生殖和维持正常的性激素水平。由于睾丸肿瘤的风险，需要进行性腺切除术。
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