title: 17beta-hydroxysteroid dehydrogenases: physiological roles in health and disease.
abstract: Androgens and estrogens play crucial roles in the growth and development of sex organs. Interconversion of these hormones between biologically active and inactive forms is catalyzed by 17beta-hydroxysteroid dehydrogenase (17beta-HSD) isozymes. Aberrations in the regulation or expression of the various 17beta-HSD isoforms has been implicated in the genesis/progression of hormonally dependent cancers of various tissues, including ovary, breast and prostate; in the predisposition of women with upper body obesity to several types of diseases, such as non-insulin dependent diabetes mellitus; and in the abnormal development of sexually ambiguous individuals, as seen in 17beta-HSD-deficient male pseudohermaphrodites. Of the five known 17beta-HSD isozymes, deleterious mutations in the type 3 isoform were found to give rise to male pseudohermaphroditism. The 16 mutations characterized to date include 12 missense mutations, three splice junction mutations, and one small deletion that results in a downstream premature stop codon. 17beta-HSD has also been studied in other species. The most notable species difference observed is the placental expression in humans of the 17beta-HSD type 1 isoform.
authors.affiliation: Cecil H. and Ida Green Center for Reproductive Biology Sciences and the Departments of Obstetrics-Gynecology and Biochemistry, University of Texas Southwestern Medical Center, Dallas, Texas 75235, USA.
authors.forename: N
authors.initials: N
authors.lastname: Moghrabi
authors.forename: S
authors.initials: S
authors.lastname: Andersson