True hermaphroditism: a new case with complex mosaicism.

Abstract

True hermaphroditism is a very rare disorder of human sexual differentiation. In the medical literature, more than 450 cases are described, and about 250 true hermaphrodites have been subjected to chromosome studies. A 21-year-old "man" was examined because of genital and phenotypic abnormalities: clinical, surgical and laboratory investigations showed a true hermaphroditism, with a quadruple mosaicism 45,X/46,XX/46,XY/47,XXY. We believe that this is the first case in which this peculiar type of multiple mosaicism has been documented.

• Authors: A Borghi, L Papi, U Bigozzi, M Biagioni, G L Taddei, A Natali, M Maiello
• Journal: Genetic counseling (Geneva, Switzerland) (Genet Couns) Vol. 1 Issue 1 Pg. 81-8 ( 1990) ISSN: 1015-8146 [Print] Switzerland
• PMID: 2222927 (Publication Type: Journal Article)

Topics

• Disorders of Sex Development (genetics)
• Female
• Genitalia (abnormalities)
• Humans
• Karyotyping
• Male
• Mosaicism
• Ovary (pathology)
• Testis (pathology)