title: Karyotypes, confined blood chimerism, and confusion: a case of genetic sex mislabelling and its potential consequences.
abstract: Disorders of sex development (DSD) encompass a range of conditions, and the management of infants with DSD can be extremely complex. However, the misdiagnosis of a normal infant as a case of DSD may lead to unfortunate long-term consequences for the individual and the family. We report a case of confined blood chimerism masking as 46 XY gonadal dysgenesis in a female from a twin pair with discordant genders, which led to incorrect sex determination at birth. The potentially serious consequences of a wrong DSD diagnosis are discussed, including the removal of normal ovaries. This case emphasises the importance of confirming a blood karyotype where there is discordance with the clinical phenotype and, where possible, identifying whether functional gonadal tissue is present.
authors.forename: Aarthi
authors.initials: A
authors.lastname: Ravishankar
authors.forename: José G B
authors.initials: JG
authors.lastname: Derraik
authors.forename: Sarah
authors.initials: S
authors.lastname: Mathai
authors.forename: Wayne S
authors.initials: WS
authors.lastname: Cutfield
authors.affiliation: Liggins Institute, University of Auckland, Private Bag 92019, Auckland, New Zealand. p.hofman@auckland.ac.nz.
authors.forename: Paul L
authors.initials: PL
authors.lastname: Hofman
mesh_terms: D046528:Chimerism; D003951:Diagnostic Errors; D005260:Female; D006061:Gonadal Dysgenesis, 46,XY / Q000097:blood / Q000175:diagnosis*; D006801:Humans; D059785:Karyotype; D007621:Karyotyping; D010641:Phenotype