Abstract
Two siblings (SG,SF) with ambiguous external genitalia at birth were reared as a female and a male respectively. In both patients the presence of ovotestis was histologically proved, and mammary glands developed at puberty. Karyotype was 46XX in all examined cells. SF's mammary glands were surgically removed and histologically revealed the picture of male glands with enlarged ducts as observed in gynecomastia. H-Y antigen was determined by prof. U.Wolf in Freiburg, by the cytotoxicity test, using rats of the highly isogenic Lewis strain:both patients were H-Y positive. Their mother was H-Y negative,indicating an autosomal dominant mode of inheritance transmitted by the father. The varying expression of the mutation may be dependent on the degree with which the H-Y structural gene is repressed or the function of the H-Y antigen is modified by other genes. The alternative formation of an ovotestis or a testis in XX individuals (XX male syndrome and true hermaphroditism) is therefore expected to be a variation of the same pathological condition.
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Gargantini, L., Chiumello, G. H-Y antigen in familial XX true hermaphroditism. Pediatr Res 13, 1192 (1979). https://doi.org/10.1203/00006450-197910000-00073
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DOI: https://doi.org/10.1203/00006450-197910000-00073