A rare inherited condition in which a genetic male with internal testes has the external appearance of a female. The syndrome is a form of intersex and is the most common form of male pseudohermaphroditism. The cause is a defective response of the body tissues to testosterone. The causative genes are carried on the X chromosome, and so females can be carriers. Affected individuals appear to be girls throughout childhood, and most develop female secondary sexual characteristics at puberty; but amenorrhoea occurs, and a diagnosis is usually made during investigations to find its cause. Chromosome analysis shows the presence of male chromosomes and blood tests show male levels of testosterone. Treatment of testicular feminization syndrome involves surgical removal of the testes, to prevent cancerous change in later life, and therapy with oestrogen drugs. An affected person is not fertile but can live a normal life as a woman.
Testicular feminization syndrome |
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