Lau Eunice Yi Chwen, Fung Yin Khet
Division of Endocrinology, Department of Medicine, Hospital Queen Elizabeth II, Kota Kinabalu, Sabah, Malaysia.
J ASEAN Fed Endocr Soc. 2020;35(1):114-117. doi: 10.15605/jafes.035.01.19. Epub 2020 Apr 20.
45,X/46,XY mosaicism is a rare disorder with a wide heterogeneity in its manifestations. An 18-year-old girl was referred to the endocrine clinic for investigation of her primary amenorrhea. Clinical examination was unremarkable. Hormonal profile was consistent with primary ovarian insufficiency and human chorionic gonadotropin (hCG) stimulation did not show evidence of active testicular tissue. Karyotyping studies by G-banding revealed a 45,X/46,XY karyotype. She was diagnosed with mosaic Turner syndrome with Y chromosomal material and investigation was performed to identify the presence of male gonads due to the risk of gonadal malignancy. Magnetic resonance imaging (MRI) of the pelvis did not show evidence of gonads. Laparoscopic exploration was proposed but the patient and parents refused opting for conservative management. This case highlights the challenges in the management of this rare condition.
45,X/46,XY嵌合体是一种罕见的疾病，其临床表现具有广泛的异质性。一名18岁女孩因原发性闭经被转诊至内分泌门诊进行检查。临床检查无异常。激素水平符合原发性卵巢功能不全，人绒毛膜促性腺激素（hCG）刺激未显示有活性睾丸组织的证据。通过G显带进行的核型分析显示为45,X/46,XY核型。她被诊断为伴有Y染色体物质的嵌合型特纳综合征，由于存在性腺恶性肿瘤的风险，对其进行了检查以确定是否存在男性性腺。盆腔磁共振成像（MRI）未显示性腺的证据。建议进行腹腔镜探查，但患者及其父母拒绝，选择了保守治疗。该病例凸显了这种罕见疾病管理中的挑战。
