Clinical traits and molecular findings in 46, XX males

Abstract:

46,XX maleness is characterized by the presence of testicular development in subjects who lack a Y chromosome. The majority of affected persons have normal external genitalia, but 10–15% show various degrees of hypospadias. Several hypotheses have been proposed to explain the etiology of this constitution: translocation of the testis‐determining factor (TDF) from the Y to the X chromosome, mutation in an autosomal or X chromosomal gene which permits testicular determination in the absence of TDF, and undetected mosaicism with a Y‐bearing cell line. We report the pheno‐typic data and results of molecular analyses performed in six sporadic Mexican males with 46,XX karyotype. Molecular studies revealed Yp sequences in two individuals (ZFY+SRY+) with different phenotypes, a third one presented with a smaller segment of Yp (ZFY–SRY+) and complete virilization, while the remaining three were Y …

Año de publicación:

1995

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