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Human Cytosolic Aldehyde Dehydrogenase in Androgen Insensitivity Syndrome

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Enzymology and Molecular Biology of Carbonyl Metabolism 4

Part of the book series: Advances in Experimental Medicine and Biology ((AEMB,volume 328))

Abstract

The androgen insensitivity syndromes (AIS) form a clinical spectrum of abnormalities that range from phenotypic women with primary amenorrhea (complete testicular feminization) to undervirilized men, all of whom are genotypic males (French et al., 1990). The majority of them are caused by defects of the androgen receptor gene which is located on the long arm of the X-chromosome at Xq11–12 (Brown et al., 1989). Patients with AR defects form the X-linked subgroup of the androgen insensitivity syndromes. The type of defects in the AR are very heterogenous, in agreement with the wide clinical spectrum of androgen insensitivity (McPhaul et al., 1991). It is becoming clear that heterogenous defects at the gene level underlie the diverse receptor abnormalities (Griffin, 1992).

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© 1993 Springer Science+Business Media New York

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Pereira, F.A., Rosenmann, E., Nylen, E.G., Wrogemann, K. (1993). Human Cytosolic Aldehyde Dehydrogenase in Androgen Insensitivity Syndrome. In: Weiner, H., Crabb, D.W., Flynn, T.G. (eds) Enzymology and Molecular Biology of Carbonyl Metabolism 4. Advances in Experimental Medicine and Biology, vol 328. Springer, Boston, MA. https://doi.org/10.1007/978-1-4615-2904-0_6

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  • DOI: https://doi.org/10.1007/978-1-4615-2904-0_6

  • Publisher Name: Springer, Boston, MA

  • Print ISBN: 978-1-4613-6259-3

  • Online ISBN: 978-1-4615-2904-0

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