Two clinical cases of 46xy karyotype in phenotypic females: disorders of sex development or a different diagnosis?

Isabel CVP AFONSO ； Kin Veng KOON ； Wai CHIN ； In Fong LAM

《澳門醫學雜誌》 11卷1期 (2024/01) Pp. 108-111

https://doi.org/10.30224/MMJ.202401_11(1).0016

摘要

Interpretation on laboratory results mostly depends on clinical information on the laboratory request forms. We intend to draw the attention to the importance of providing comprehensive clinical information on the request forms to laboratory through reviewing two cytogenetic reports from two individual cases. Two female patients were classified as 46XY karyotype during investigation for primary amenorrhea and recurrent miscarriage respectively. The inconsistency of sex chromosome and clinical phenotype is subsequently confirmed to be induced by bone marrow transplant instead of disorders of sex development.

關鍵字

Disorders of sex development ； Karyotype ； Bone marrow transplant