Details - University of Chicago Medicine Faculty Profiles

Alexandra Dumitrescu

Section of Endocrinology, Diabetes and Metabolism

Associate Professor of Medicine

adumitre@bsd.uchicago.edu

Referring Physician Access Line: 1-877-DOM-2730

Academic Interests

Dr. Dumitrescu’s research is focused on the study of the pathophysiology of inherited defects affecting the thyroid function, in particular those involving transmembrane thyroid hormone transport and intracellular thyroid hormone metabolism. One of the defects she studies is that of the X-linked gene MCT8, a transmembrane transporter of thyroid hormone. Its deficiency results in severe psychomotor and development delay in males, also known as Allan Herndon Dudley syndrome. Among known inherited disorders of the thyroid axis in humans, this is the first involving thyroid hormone transport into cells. Dr. Dumitrescu has generated an Mct8 knockout mouse model. Extensive in vivo and in vitro work on this mouse model continues to uncover the underlying mechanisms for this complex defect.Another novel thyroid defect she studies is that caused by mutations in selenocysteine incorporation sequence binding protein 2 (SBP2) and represents the first defect in a component of the selenoprotein synthesis machinery. This deficiency has consequence on growth and thyroid function at young age, causes decreased fertility in males and is expected to result in increased cancer susceptibility in both genders with age. Severe SBP2 gene mutations present additional features, such as congenital myopathy, developmental delay, sensorineural hearing loss and complex immune deficits, thus reflecting multiple selenoprotein deficiencies. Dr. Dumitrescu's current studies address the need for an in vivo model to further understand the pathophysiology of this new genetic defect, by generating mouse models with Sbp2 deficiency. Initial investigations will uncover the underlying mechanisms for the characteristic thyroid phenotype, infertility, growth delay and myopathy. The study of the aging animals will allow close monitoring for manifestations later in life, and other presumed phenotypes, including cancer, neurodegenerative disorders and immune dysfunction.

Clinical Interests

Endocrinology,thyroidology,inherited thyroid diseases,genetic syndromes

Publications

For a complete list of publications click here:

Training

BS, 1992, High School Alexandru Lahovari, Rimnicu Vilcea, Romania
MD, 1998, University of Medicine and Pharmacy Carol Davila, Medicine and Pharmacy
PhD, 2005, University of Chicago, Human Genetics
Residency, 2009, University of Chicago, Internal Medicine
Fellowship, 2012, University of Chicago, Endocrinology