18-Year-old patient with Klinefelter syndrome (47, XXY) and complete androgen insensitivity syndrome (CAIS) – case report

Abstract

Aims

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.

Materials and methods

The presented case report is the retrospective analysis of the patient’s medical history over the 3 years.

Results

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.

Conclusions

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.

摘要

目的:本病例报告的目的是强调在Klinefelter综合征(KS, 47 XXY)和完全雄激素不敏感综合征(CAIS)共存的情况下, 适当的诊断和治疗的重要性。由于没有病因治疗, 因此有必要为患者提供良好的生活质量, 包括心理和性学支持。

材料与方法:本病例报告是对患者3年来的病史进行回顾性分析。

结果:患者15岁时因原发性闭经而接受基因检测。结果显示一个错误的男性核型与SRY基因存在(47,XXY)。分子诊断结果表示一个非常罕见的变异雄激素受体(AR)突变导致组织对雄激素不敏感。检测到的突变至今有罕见数据报道。在诊断为存在Klinefelter综合征(KS, 47xxy)和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。

结论:在有KS和CAIS的女性中不可能存在正常的激素水平来维持生理生殖和正常的性功能。性腺切除术是由于患者存在恶性睾丸肿瘤的风险。

Keywords:

• Klinefelter syndrome
• androgen insensitivity syndrome
• disorder of sexual development

Disclosure statement

The authors report no conflict of interest.