PMID: 3594931Apr 1, 1987Paper

A phenotypic male with true hermaphroditism and a 46,XX/46,XY/47,XXY karyotype

Clinical Genetics
J M WitJ Huber


A phenotypic boy presenting with gynaecomastia showed a mixed karyotype of 46,XX/46,XY/47,XXY. The left gonad was normally descended into the scrotum, but proved to be an ovary without any testicular structures. After left gonadectomy, plasma androgen and estrogen levels showed that the right gonad only contained testicular tissue. Seven patients with this form of triple mosaicism have been described but the clinical features are strikingly different among the described cases.


Jul 1, 1985·The Journal of Clinical Endocrinology and Metabolism·J M KuhnL M Wolf
Mar 1, 1971·Journal of Medical Genetics·A ChaudhuriS Sarkar
Dec 1, 1969·Journal of Medical Genetics·E BarreiroA Swartz
Jan 1, 1981·Human Genetics·W A van Niekerk, A E Retief
Sep 4, 1965·Lancet·M RIBAS MUNDO, J PRATS

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Oct 10, 2006·Clinical Genetics·V MalanC Turleau
Sep 21, 2004·American Journal of Medical Genetics. Part a·Karem NietoGloria Queipo
Dec 23, 2006·Human Reproduction·Wendy P RobinsonDeborah E McFadden

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