Sex-Determining Genes and the Y-Chromosome

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Abstract
Possession of the Y-chromosome is usually linked with male phenotypic expression. Rarely, however, in the apparent absence of Y-chromosomes in all tissues examined, and with a 46 XX karyotype, a male phenotype is observed.1 Moreover, a female phenotype may be observed with a 46 XY karyotype.2 Typically, the general appearance and psychosexual orientation of the XX individuals is male. Many of their features —clinical, hormonal and histologic — are almost indistinguishable from those found in Klinefelter's syndrome. In particular, gynecomastia is frequent, deficient Leydig-cell function the rule, and testicular tubules hyalinized, fibrosed and lacking spermatogonia. Clinically, the XX males may . . .

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