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Elizabeth Anne Streeten, MD

Academic Title:

Clinical Professor

Primary Appointment:


Additional Title:

Co-Director, Adult Genetics Clinic; Faculty Assembly member


Howard Hall Room 567

Phone (Primary):


Phone (Secondary):




Education and Training

Undergraduate education:Mount Holyoke College, major: biochemistry

Medical School:Albany Medical College

Internship & Residency in Medicine: Johns Hopkins University School of Medicine, Johns Hopkins Hospital

Fellowship in Clinical Genetics: Johns Hopkins University School of Medicine, Johns Hopkins Hospital

Fellowship in Endocrinology & Metabolism: Metabolic Diseases Branch, National Institute of Diabetes, Digestive and Kidney Disease, National Institutes of Health


Dr. Streeten is a Professor of Medicine in the Division of Endocrinology, Diabetes and Nutrition and has a secondary appointment in Pediatrics in the Genetics Division. She is the Co-Director of the Genetics and Personalized Medicine Clinic at the University of Maryland and is board certified in Internal Medicine, Endocrinology and Metabolism, and Clinical Genetics. She has extensive clinical experience in a wide variety of monogenic diseases, including those associated with the endocrine system (in particular, bone and mineral disorders), and non-endocrine disorders (eg. lysosomal storage disorders including Fabry and Pompe diseases, mitochondrial disorders including MELAS, connective tissue disorders including Ehlers Danlos syndrome, Marfan syndrome, skeletal dysplasias and neurodegenerative disorders).

Dr Streeten is the PI on a longstanding study of Osteoporosis Pseudoglioma Syndrome and a study on CYP24A1 mutations and kidney stones. In addition, she is a co-investigator in a study to identify patients with monogenic diabetes (PI: Toni Pollin, PhD) and in studies related to pharmacogenetics of response to medication used to treat diabetes.  She is a team member of the Pharmacogenomics Service at UMMS, currently involved in an intervention project to increase testing of CYP2C19 genotype for patients undergoing PCI who are prescibed clopidogrel.

Contributions to the literature include participation in GWAS association studies on osteoporosis, bone geometry, 25(OH)D level, PTH level, and female reproductive phenotypes; studies of bone quality in OPPG and report of the first adult with hypercalcemia due to CYP24A1 mutation. Much of her research has been carried out at the University of Maryland Amish Research Clinic near Lancaster, PA.

Research/Clinical Keywords

Osteoporosis Pseudoglioma Syndrome, Personalized Medicine, Monogenic endocrine disorders, Clinical Genetics

Highlighted Publications

Streeten E.A., McBride D.J., Lodge A. L., Pollin T.I., Stinchcomb D.G., Argarwala R, Schaffer A.A., ShapiroJ.A., Shuldiner A.R., Mitchell B.D. Reduced incidence of hip fracture in the Old Order Amish. J Bone Min Res 19:308-313, 2004. PMID:14969401

Streeten EA, McBride D, Puffenberger E, Hoffman ME, Pollin TI, Donnelly P, Sack P, Morton DH. Osteoporosis-pseudoglioma Syndrome: Description of 9 New Cases and Beneficial Response to Bisphosphonates. Bone 2008;43:584-590. PMCID:PMC2935289

Daley E, Streeten EA , Sorkin JD, Kuznetsova N, Shapses SA, Carleton SM, Shuldiner AR, Mrini JC, Phillips CL, Goldstein SA, Leikin S, McBride DJ. Variable Bone Fragility Asociated with an Amish COL1A2 Variant and a Knock-in Mouse Model. J Bone Miner Res 2009 Feb; 25(2):247-61. PMCID:PMC3153383

Streeten EA, Zarbalian K, Damcott CM. CYP24A1 mutations in idiopathic infantile hypercalcemia. N Engl J Med. 2011 Nov 3;365(18):1741-2; author reply 1742-3 PMID:22047572

Streeten EA, Ramirez S, Eliades M, Jaimungal S, Chandrasekaran S, Kathleen R, Holmes Morton D, Puffenberger EG, Herskovitz R, Leonard MB. Fractures on bisphosphonats in osteoporosis pseudoglioma syndrome (OPPG): pQCT shows poor bone density and structure.  Bone. 2015 Aug;77:17-23. doi: 10.1016/j.bone.2015.04.007. Epub 2015 Apr 16. PubMed PMID: 25892485; PMCID: PMC4480984.

Additional Publication Citations

Awards and Affiliations

Mount Holyoke College: summa cum laude, Phi Beta Kappa, Sara Williston Scholar

Albany Medical College: Alpha Omega Alpha, Dean’s Outstanding Summer Research Award, 1979, Lamb Award, 1982

University of Maryland School of Medicine, Division of Endocrinology: Faculty Teacher of the Year Award 2010, 2011, 2013 and 2015

Links of Interest

I work one day per week at the Central PA Clinic for Special Children and Adults, in Belleville PA, seeing Amish and Mennonite adults with genetic disorders.