Mentor: Richard Auchus
Department: Internal Medicine/Endocrinology
Room number: Y5.210A
Mail Code: 8857
Phone number: 8-6751
E-mail: Richard.auchus@utsouthwestern.edu
Project title: Steroid biosynthesis in health and disease
Human subjects IRB approved project number (where applicable): 052007-067; 1203-811; 012006-022; 052004-044; 082008-001
Animal subjects IRB approved project number (where applicable):
Project Type (patient-based research, animal-based research, or basic research; this characterization is only to permit a general classification for grouping similar types of projects)
Brief Description of Project:
Various projects are available, ranging from basic to clinical and translational.
Specific projects will vary with time but examples include:
Mutation analysis and modifier genes in patients with congenital adrenal hyperplasia;
Molecular studies of human adrenal tumors;
Diagnostic strategies in primary aldosteronism and Cushing syndrome;
Pasireotide (SOM230) in the treatment of Cushing's disease;
Steroid hormone profiling by mass spectrometry.
Activities may include preparation of IRB forms, review and analysis of collated data, PCR and sequencing of DNA from patients, enrollment and monitoring of study participants, and molecular studies on enzymes and signaling pathways in human tumors.
Previous Research Activities or Publications with Housestaff:
D.P. Sherbet, D. Tiosano, K.M. Kwist, Z. Hochberg, and R.J. Auchus. CYP17 mutation
E305G causes isolated 17, 20-lyase deficiency by selectively altering substrate
binding. J Biol Chem 278:48563-48569, 2003.
D.P. Sherbet, M. Papari-Zareei, N. Khan, K.K. Sharma, A. Brandmaier, S. Rambally,
A. Chattopadhyay, S. Andersson, A.K. Agarwal, and R.J. Auchus. Cofactors, redox
state, and directional preferences of hydroxysteroid dehydrogenases. Mol Cell
Endocrinol 265-266:83-88, 2007.
I.C. Mitchell, R.J. Auchus, K. Juneja, A.Y. Chang, S.A. Holt, W.H. Snyder III,
F.E. Nwariaku. "Subclinical Cushing syndrome" is not subclinical:
Improvement following adrenalectomy in a series of nine cases. Surgery 142:900-905,
2007.
H.K. Ghayee and R.J. Auchus. Basic concepts and recent developments in human
steroid hormone biosynthesis. Rev Endocr Metab Disord 8:289-300, 2007.
R. Patel, A.Y. Chang, A. Rohatgi, H.K. Ghayee, E. Keeley, R.J. Auchus, and G.
Peterson. Hyperthyroidism-associated coronary vasospasm with myocardial infarction
and subsequent euthyroid angina. Thyroid 18:273-276, 2008.
H. K. Ghayee and R. J. Auchus. Clinical Implications of Androgen Synthesis Via
5?-Reduced Precursors. Endocr Dev 13:55-66, 2008.
A.Y. Chang, H.K. Ghayee, R.J. Auchus. DHEA replacement therapy: panacea, snake
oil, or a bit of both? Nat Clin Pract Endocrinol 4:442-443, 2008.
R.J. Auchus, C. Michaelis, F.H. Wians Jr, B.L. Dolmatch, S.C. Josephs, C.K.
Trimmer, M.E. Anderson, F.E. Nwariaku. Rapid cortisol assays improve success
rate of adrenal vein sampling for primary aldosteronism. Ann Surg (in press).
H.K. Ghayee, B. Havekes, E.P.M. Corssmit, G. Eisenhofer, S.R. Hammes, K. Pacak,
R.J. Auchus. Mediastinal paragangliomas: Association with mutations in the succinate
dehydrogenase genes and aggressive behavior. Endocr Relat Cancer (in press).
D.P. Sherbet, O.L. Guryev, M. Papari-Zareei, S. Rambally, S. Akbar, R.J. Auchus.
Biochemical factors governing the steady-state estrone/estradiol ratios catalyzed
by human 17?-hydroxysteroid dehydrogenase types 1 and 2 in HEK-293 cells. (submitted).