Karyotypes, confined blood chimerism, and confusion: a case of genetic sex mislabelling and its potential consequences
Aarthi Ravishankar, Jos\u00e9 G B Derraik, Sarah Mathai, Wayne S Cutfield, Paul L Hofman
Disorders of sex development (DSD) encompass a range of conditions which at their extreme can present as boys appearing like normal girls and girls appearing like normal boys. The management of infants with DSD can be extremely complex, requiring the long-term involvement of a multidisciplinary team working alongside the family. However, in some cases a normal infant may be wrongly labelled as having DSD, which may lead to irreversible consequences such as inappropriate surgery. This case illustrates how easily this can occur. The infants blood had a normal male 46 XY karyotype due to bone marrow transplant from the male twin while the other tissues were a normal female 46XX karyotype. This led to an incorrect sex determination at birth and almost to the potentially disastrous surgical removal of normal ovaries.