The Rare Genetic Steroid Disorders Consortium
Participating Clinical Centers

University of Texas Southwestern Medical Center

Dallas, TX

Jean D. Wilson, M.D.

Richard J. Auchus, M.D./Ph.D.

David Russell, Ph.D.

Contact Information:

Research & Academic: 214-648-3494

Clinic Appointments: 214-648-7531

About Us:

The endocrine division at UT Southwestern encompasses all aspects of endocrinology. A variety of clinical and basic research efforts are directed by a diverse faculty whose expertise spans the spectrum of endocrine disease.

The strength of the division has been recognized consistently by national rankings, such as that conducted by U.S. News & World Report. In 2004, Parkland was ranked 14th among Endocrinology divisions at all U.S. hospitals. Several of the faculty members in the division are listed among the Best Doctors in America.

Our specific role in the Rare Genetic Steroids Consortium is to perform diagnostic testing, including DNA analysis, for Androgen Insensitivity, Steroid 5a-Reductase 2 Deficiency, 17-Hydroxylase Deficiency, and 17b-Hydroxysteroid Dehydrogenase Deficiency. We are also participating in developing and executing clinical trials as part of the Consortium.

Useful Links

University of Texas Southwestern Medical Center at Dallas Web Site

Current Clinical Trials:

5607 - Modifier Genes in 21-Hydroxylase Deficiency

Publications:

Costa-Santos M, Kater CE, and Auchus RJ. 2004 Seven novel CYP17 gene mutations in 24 Brazilian patients with 17-hydroxylase deficiency include two highly prevalent mutations that suggest independent founder effects. J Clin Endocrinol Metab 89:49-60.

Geissler WM, Davis DL, Wu L, Bradshaw KD, Patel S, Mendonca BB, Elliston KO, Wilson JD, Russell DW, and Andersson S 1994 Male pseudohermaphroditism caused by mutations of testicular 17b-hydroxysteroid dehydrogenase 3. Nat Genet 7:34-39.

Andersson S, Berman DM, Jenkins EP, Russell DW 1991 Deletion of steroid 5a-reductase 2 gene in male pseudohermaphroditism. Nature 354:159-161.

Wilson JD, Griffin JE, Russell DW 1993 Steroid 5a-reductase 2 deficiency. Endocr Rev 14:577-593.

McPhaul MJ, Marcelli M, Zoppi S, Griffin JE, Wilson JD 1993 Genetic basis of endocrine disease. 4. The spectrum of mutations in the androgen receptor gene that causes androgen resistance. J Clin Endocrinol Metab 76:17-23.