Fuqua-Berkovitz syndrome
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Summary
Fuqua-Berkovitz syndrome is characterised by the association of ambiguous genitalia with well-developed Mullerian structures and testes with a normal appearance. Two cases have been described so far, both of which had a 46,XY karyotype. Histological studies failed to reveal any testicular anomalies. *Author: Orphanet (October 2006)*.
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