45,X/46,XY Mosaicism in an 18-year-old Girl with Primary Amenorrhea: A Case Report





Mixed gonadal dysgenesis, Turner syndrome, Y chromosome, sex chromosome aberrations, 45X/46XY mosaicism


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.


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Author Biographies

Eunice Yi Chwen Lau, Hospital Queen Elizabeth II

Division of Endocrinology, Department of Medicine

Yin Khet Fung, Hospital Queen Elizabeth II

Division of Endocrinology, Department of Medicine


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How to Cite

Lau, E. Y. C., & Fung, Y. K. (2020). 45,X/46,XY Mosaicism in an 18-year-old Girl with Primary Amenorrhea: A Case Report. Journal of the ASEAN Federation of Endocrine Societies, 35(1), 114–117. https://doi.org/10.15605/jafes.035.01.19



Case Reports