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The Journal of Clinical Endocrinology & Metabolism Vol. 84, No. 2 802-804
Copyright © 1999 by The Endocrine Society

Original Studies

17ß-Hydroxysteroid Dehydrogenase 3 Deficiency in Women1

Berenice B. Mendonca, Ivo J. P. Arnhold, Walter Bloise, Steffan Andersson, David W. Russell and Jean D. Wilson

Division of Endocrinology (B.B.M., I.J.P.A., W.B.), Hospital das Clinicas of The University of Sao Paulo School of Medicine, Sao Paulo, Brazil; The Green Center for Reproductive Biology Sciences and the Department of Obstetrics and Gynecology (S.A.), the Department of Molecular Genetics (D.W.R.), and the Department of Internal Medicine (J.D.W.), University of Texas Southwestern Medical Center, Dallas Texas 75235-8857

In genetic males, mutation of the 17ß-hydroxysteroid dehydrogenase 3 (17HSD3)gene that is normally expressed in the testes impairs testosterone formation and causes development of male pseudohermaphroditism. We have ascertained seven women who are sisters of men with 17HSD3 deficiency and who are either homozygotes or compound heterozytotes for the same mutations as their affected brothers. Our findings confirm the concept that women with such mutations are asymptomatic.




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Copyright © 1999 by The Endocrine Society