46,XX/46,XY chimerism in a phenotypically normal man |
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Authors: | E. Schoenle W. Schmid A. Schinzel M. Mahler M. Ritter T. Schenker M. Metaxas P. Froesch E. R. Froesch |
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Affiliation: | (1) Department of Medicine, University Hospital, CH-8091 Zürich, Switzerland;(2) Institute of Medical Genetics, University of Zurich, CH-8001 Zürich, Switzerland;(3) Institute of Forensic Medicine, University of Zurich, CH-8091 Zürich, Switzerland;(4) Institute of Anthropology and Human Genetics, University of Tuebingen, D-7400 Tuebingen, FRG;(5) Blood Group Reference Laboratory, Blood Transfusion Service Swiss Red Cross, CH-8001 Zürich, Switzerland;(6) University Children's Hospital, CH-8032 Zürich, Switzerland |
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Abstract: | Summary Some twenty cases of dispermic chimeras with the karyotype 46,XX/46,XY, discovered because of gonadal dysplasias or a true hermaphroditism, have been reported. This is a report of a phenotypically normal man with 46,XX/46,XY chimerism in whom a prepubertal finding of positive X-chromatin was interpreted as Klinefelter syndrome. The diagnosis was revised 11 years later when the family doctor, who doubted the earlier diagnosis because of the patient's normal-sized testes, sent him to an outpatient clinic. The young man was 23 years old, athletic (74kg, 180cm), with normal body proportions, normal sexual hair distribution, normal libido and potency, normal endocrine parameters, and a normal spermiogram. The karyotype revealed an XX/XY mosaic in a proportion of 1:2. An identical set of maternal markers (Q- and C-banding) was present in male and female cells. Differences were found with respect to two paternal markers. Furthermore, blood, serum, and red cell enzyme groups in five systems showed two phenotypes, again with duality of paternal origin. It is concluded that a positive X-chromatin in prepuperty, especially in the absence of supporting clinical features, must be followed by a karyotype study. |
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