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True hermaphroditism with XX/XY sex chromosome mosaicism: Report of a case
Author(s) -
Marchi M. De,
CARBONARA A. O.,
Carozzi F.,
Massara F.,
Belforte L.,
Moldsatti G. M.,
Bisbocci D.,
Passarino M. P.,
Palestro G.
Publication year - 1976
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1976.tb00047.x
Subject(s) - true hermaphroditism , karyotype , biology , hypospadias , male pseudohermaphroditism , disorders of sex development , uterus , y chromosome , endocrinology , external genitalia , chromosome , medicine , genetics , anatomy , gene
A case of true hermaphroditism with 46, XX/46, XY karyotype is reported. The propositus, reared as a male, showed ambiguous external genitalia with perineoscrotal hypospadias, and internal genitalia represented by bilateral ovotestes, normal uterus and tubes. Periodic menstrual bleedings appeared at puberty. The endocrinologic data demonstrated the secretory activity of both the ovarian and the testicular tissue. The analysis of red cell, lymphocyte and serum markers, done on the propositus and on his parents, failed to show any evidence of double fertilization. On this basis, the origin of the XX/XY condition (mosaicism versus chimerism) and its developmental consequences are discussed.