An unusal case of hermaphroditism--a 46,XX/69,XXY chimera.
A diploid/triploid karyotype is an uncommon but important cause of true hermaphroditism and ambiguous genitalia. Individuals have a recognisable phenotype and characteristic hydatidiform placental changes. We report a 46,XX/69,XXY chimeric hermaphrodite. This case highlights the typical features (large placenta, intrauterine growth retardation, asymmetric growth, cranio-facial anomalies, syndactyly and pigmentary dysplasia). It illustrates the importance of obtaining skin and gonadal karyotypes in the case of genital ambiguity, as the venous lymphocytic karyotype is usually diploid.
Sheffield Children's Hospital, Western Bank, Sheffield, UK. N.P.Wright@sheffield.ac.uk
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Wright
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Wales
D002678:Chimera / Q000235:genetics; D019465:Craniofacial Abnormalities / Q000150:complications; D012734:Disorders of Sex Development / Q000209:etiology*; D005260:Female; D005317:Fetal Growth Retardation / Q000150:complications; D006059:Gonadal Dysgenesis / Q000150:complications* / Q000235:genetics* / Q000473:pathology; D023961:Gonadal Dysgenesis, 46,XX / Q000150:complications* / Q000235:genetics / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male