The Rare Genetic Steroid Disorders Consortium
Participating Clinical Centers

University of São Paulo

São Paulo, Brazil

Ivo Arnhold, MD, PhD
Professor
Email: iarnhold@usp.br

Berenice Mendonca, MD, PhD
Professor

Tania Bachegas, MD, PhD

Elaine Costa, MD, PhD

Rafaela Correa MD, PhD

Sorahia Domenice MD, PhD

Guiomar Madureira, MD, PhD

Regina Martin MD, PhD

Suemi Marui, MD, PhD

Marlene Inacio, PhD
Psychologist

Elisa Verduguez, PhD
Psychologist

For more information about these investigators, please see
http://buscatextual.cnpq.br/buscatextual/index.jsp

Contact Information:

Research and Academic
Phone: 011 55 11 3069 7512

About Us:

Unidade de Endocrinologia do Desenvolvimento (Developmental Endocrinology Unit), formerly called Unidade de Intersexo (Intersex Unit), at the Hospital das Clinicas – University of São Paulo Medical School has followed patients with ambiguous genitalia since 1977 under the supervision of Dr. Berenice Mendonca. Over the past 25 years, it has become a center of reference for patients with ambiguous genitalia from Brazil, a country with 170 million inhabitants. In addition to specialized clinical evaluation, we have a laboratory that performs 35,000 hormonal measurements per month as well as cytogenetics and gene sequencing. We believe that the integration of a large number of patients with ambiguous genitalia, experienced clinical judgment, and criteria for hormonal measurement allows a selective indication for genetic studies for molecular diagnosis. In addition, our close collaboration with psychologists and surgeons results in improved management and long follow-up.

Useful Links

University of São Paulo Web Site

Current Clinical Trials:

Trial information is under development - please check back for updates!

Publications:

The degree of external genitalia virilization in girls with 21-hydroxylase deficiency appears to be influenced by the CAG repeats in the androgen receptor gene. Rocha RO, Billerbeck AE, Pinto EM, Melo KF, Lin CJ, Longui CA, Mendonca BB, Bachega TA. Clin Endocrinol (Oxf). 2008 Feb;68(2):226-32.

MOLECULAR GENETICS OF STEROID 5a-REDUCTASE 2 DEFICVIENCY. Thigpen AE., Davis DL., Milatovich A., Mendonca BB., Imperato-McGinley J., Griffin JE., Francke U., Wilson JD. and Russell DW. J. Clin. Invest. 90: 799-809, 1992.

MALE PSEUDOHERMAPHRODITISM CAUSED BY MUTATIONS OF TESTICULAR 17-HYDROXYSTEROID DEHYDROGENASE 3. W. M. Geissler, D. L. Davis, L. Wu, K. D. Bradshaw, S. Patel, Mendonca BB, K. O. Elliston, J. D. Wilson, D. W. Russell & S. Andersson. Nature. Genet. 7(1): 34-39, 1994.

TESTICULAR AND OVARIAN RESISTANCE TO LUTEINIZING HORMONE CAUSED BY HOMOZYGOUS INACTIVATING MUTATIONS OF THE LUTEINIZING HORMONE-RECEPTOR GENE. A.C. Latronico, J. Anasti, I.J.P. Arnhold, R. Rapaport, Mendonca BB., W. Bloise, M. Castro, C. Tsigos and G. P. Chrousos. N. Engl. J. Med. 334(8): 507-512, 1996.

THE GENETIC AND FUNCTIONAL BASIS OF ISOLATED 17,20-LYASE DEFICIENCY. Geller DH., Auchus RJ., Mendonca BB , Miller WL. Nature Genetics 17: 201-205, 1997.

NONGENETIC MALE PSEUDOHERMAPHRODITISM AND REDUCED PRENATAL GWOTH. Mendonca BB ., Billerbeck AE., deZegher F. N. Engl. J. Med. 345(15): 1135-1135, 2001 - Letter to Editor And reply to letter N. Engl. J. Med. 346(8): 628-9, 2002 - Letter to Editor

FEMALE PSEUDOHERMAPHRODITISM CAUSED BY A NOVEL HOMOZYGOUS MISSENSE MUTATION OF THE GR GENE. Mendonca BB., Leite MV, Castro M., Kino T., Elias LL., Bachega TASS., Arnhold IJP., Chrousos GP., Latronico AC. J. Clin. Endocrinol. Metab. 87(4): 1805-1809, 2002

THREE NOVEL MUTATIONS IN CYP21 GENE IN BRAZILIAN PATIENTS WITH THE CLASSICAL FORM OD 21-HYDROXYLASE DEFICIENCY DUE TO A FOUNDER EFFECT. Billerbeck AEC., Mendonca BB Pinto EM ., Madureira G., Arnhold IJP., Bachega TASS. J. Clin. Endocrinol. Metab. 87(9): 4314-4317, 2002.

CLINICAL, HORMONAL, BEHAVIORAL, AND GENETIC CHARACTERISTICS OF ANDROGEN INSENSITIVITY SYNDROME IN A BRAZILIAN COHORT: FIVE NOVEL MUTATIONS IN THE ANDROGEN RECEPTOR GENE . Melo KFS, Mendonca BB, Billerbeck AEC, Costa EMF, Inacio M, Silva FAQ, Leal AMO , Latronico AC, Arnhold IJP. J. Clin. Endocrinol. Metab. 88(7): 3241-3250, 2003

P450C17 DEFICIENCY IN BRAZILIAN PATIENTS: BIOCHEMICAL DIAGNOSIS THROUGH PROGESTERONE LEVELS CONFIRMED BY CYP17 GENOTYPING. Martin RM, Lin CJ, Costa EM , de Oliveira ML, Carrilho A, Villar H, Longui CA, Mendonca BB. J Clin Endocrinol Metab. 88(12):5739-5746, 2003

MUTANT P450 OXIDOREDUCTASE CAUSES DISORDERED STEROIDOGENESIS WITH AND WITHOUT ANTLEY-BIXLER SYNDROME. Fluck CE, Tajima T, Pandey AV, Arlt W, Okuhara K, Verge CF, Jabs EW, Mendonca BB, Fujieda K, Miller WL. www.nature.com/naturegenetics - Published online: 1 February 2004

MICRODELETION IN THE LIGAND BINDING DOMAIN OF HUMAN STEROIDOGENIC FACTOR 1 CAUSES XY SEX REVERSAL WITHOUT ADRENAL INSUFFICIENCY. Correa RV, Domenice S, Bingham NC , Billerbeck AE, Rainey WE, Parker KL, Mendonca BB. J Clin Endocrinol Metab. 2004 (4:1767-1772.

More Publications Available