Elizabeth Anne Streeten, MD

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 Clinical Professor of Medicine in the Division of Endocrinology, Diabetes and Nutrition, on the Volunteer Faculty. She retired in 7/21, at which time she closed her clinical practice. However, she remains active in research. Prior to her retirement in 2021, she had a secondary appointment in the Genetics Division in the Department of Pediatrics and was the Co-Director of the Genetics and Personalized Medicine Clinic at the University of Maryland. She is board certified in Internal Medicine, Endocrinology and Metabolism, and Clinical Genetics. She has >35 years of clinical experience in a wide variety of endocrine disorders, with  subspecialty in bone and mineral disorders. In addition, she has extensive experience in 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 has a longstanding interest in Osteoporosis Pseudoglioma Syndrome (OPPG), which she continues to study. Currently, she is studying low muscle mass in OPPG. She has been a co-investigator on numerous studies over her career including studies in the Old Order Amish (including on osteoporosis, vitamin D deficiency, type 2 diabetes, KCNQ1-related long QT syndrome, population based exome sequencing, and pharmacogenetic studies on medications for diabetes) and non-Amish (including on secondary hyperparathyroidism, hypoparathyroidism, MEN1, Paget disease and monogenic diabetes).  

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, report of the first adult with hypercalcemia due to CYP24A1 mutation and a study on an Amish founder variant in KCNQ1 that causes long QT syndrome that enabled population screening. Much of her research has been carried out at the University of Maryland Amish Research Clinic near Lancaster, PA.

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

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.

Streeten EA, Mohtasebi Y, Konig M, Davidoff L, Ryan K. Hypoparathyroidism: Less severe hypocalcemia with treatment with vitamin D2 compared to calcitriol.J Clin Endocrinol Metab. 2017 Jan 23. doi: 10.1210/jc.2016-3712. [Epub ahead of print]PMID:28324108

Streeten EA, See VY, Jeng LBJ, Maloney KA, Lynch M, Glazer AM, Yang T, Roden D, Pollin TI, Daue M, Ryan KA, Van Hout C, Gosalia N, Gonzaga-Jauregui C, Economides A, Perry JA, O'Connell J, Beitelshees A, Palmer K, Mitchell BD, Shuldiner AR; Regeneron Genetics Center. KCNQ1and Long QT Syndrome in 1/45 Amish: The Road From Identification to Implementation of Culturally Appropriate Precision Medicine. Circ Genom Precis Med. 2020 Dec;13(6):e003133. doi: 10.1161/CIRCGEN.120.003133. Epub 2020 Nov 3.PMID: 33141630 

Lynch MT, Maloney KA, Pollin TI, Streeten EA, Xu H; Regeneron Genetics Center; Shuldiner AR, Van Hout CV, Gonzaga-Jauregui C, Mitchell BD. The burden of pathogenic variants in clinically actionable genes in a founder population.Am J Med Genet A. 2021 Nov;185(11):3476-3484. doi: 10.1002/ajmg.a.62472. Epub 2021 Aug 31.PMID: 34467620

Yazdi ZS, Streeten EA, Whitlatch HB, Montasser ME, Beitelshees AL, Taylor SI. Critical Role for 24-Hydroxylation in Homeostatic Regulation of Vitamin D Metabolism.medRxiv [Preprint]. 2024 Mar 7:2023.06.27.23291942. doi: 10.1101/2023.06.27.23291942.Update in:J Clin Endocrinol Metab. 2024 Mar 14:dgae156. doi: 10.1210/clinem/dgae156.PMID: 37425945 

Shahidzadeh Yazdi Z, Streeten EA, Whitlatch HB, Montasser ME, Beitelshees AL, Taylor SI. Vitamin D Deficiency Increases Vulnerability to Canagliflozin-induced Adverse Effects on 1,25-Dihydroxyvitamin D and PTH. J Clin Endocrinol Metab. 2024 Jan 18;109(2):e646-e656. doi: 10.1210/clinem/dgad554.PMID: 37738423