XX male

Dieter Meschede and Eberhard Nieschlag

in Oxford Textbook of Endocrinology and Diabetes

Second edition

Published on behalf of Oxford University Press

ISBN: 9780199235292
Published online July 2011 | e-ISBN: 9780199608232 | DOI:

Series: Oxford Textbooks

XX male

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This disorder is characterized by the combination of male external genitalia, testicular differentiation of the gonads, and an apparent 46,XX karyotype. Designation of the karyotype as 46,XX is based on conventional cytogenetic analysis, where the X chromosomes have an inconspicuous appearance. If molecular methods are applied, most XX males can be shown to have translocated Y-chromosomal material on the tip of one X chromosome. Strictly speaking, the karyotype of these patients should be written as 46,X,der(X)t(Xp;Yp).

It has been suggested that this disorder be renamed ‘46,XX testicular disorder of sex development’ (1). The authors prefer to stay with the the less clumsy ‘XX male (syndrome)’.

Chapter.  1255 words.  Illustrated.

Subjects: Endocrinology and Diabetes

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