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Macau Periodical Index (澳門期刊論文索引)
- Author
- Afonso, Isabel；Koon, Kin Veng；Chin, Wai；Lam, In Fong
- Title
- Two clinical cases of 46xy karyotype in phenotypic females: disorders of sex development or a different diagnosis?
- Journal Name
- 澳門醫學雜誌
- Pub. Info
- 2024年1月31日, 第11卷第1期, pp. 108-111
- Link
- https://www.am.gov.mo/cn/journal/file/v11_1.pdf
- Keyword
- Disorders of sex development；Karyotype；Bone marrow transplant
- Abstract
- 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. Paragraph Headings: 1. Introduction 2. Case presentation 3. Discussion 4. Conclusion