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XX male 

XX male
Chapter:
XX male
Author(s):

Dieter Meschede

and Eberhard Nieschlag

DOI:
10.1093/med/9780199235292.003.9079
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date: 14 August 2020

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)’.

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