Progeny of XY females

Dr Jim Cummins cummins at POSSUM.MURDOCH.EDU.AU
Wed Jan 18 20:32:54 EST 1995

>The sex tests routinely carried out on athletes occasionally throw up an
>example of a woman with a normal female phenotype but with an XY
>karyotype.  I assume that the Y chromosome is defective due to
>mutations in one or more important maleness-determining genes.  If such
>women are fertile (and I assume that this is the case), this means that the
>progeny could have one of four possible karyotypes:
>XX - female
>XY - male
>XY' - female (with 'defective' Y chromosome from the mother)
>and YY'.

I think you are talking about testicular feminization in which genetic
males lack the ability to respond to testosterone and thereby revert to the
archetypical mammalian female phenotype.  This is due to a gene (tfm) on
the X chromosome that causes lack of androgen receptors.  Such individuals
are sterile and indeed often need castration as the (inguinally situated)
testes have a high propensity to turn cancerous.

See Lyon and Hawkes (1970 Nature 227:1127 for an account of a mouse model
of this condition.

Yours, virtually:-

Jim "Spermatology rules o~ o~ o~ o~" Cummins

Associate Professor in Veterinary Anatomy
Murdoch University,
Murdoch Western Australia 6150
Tel +61-9-360 2668
Fax +61-9-310 4144
E mail cummins at

"I hate quotations"

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