Shana E. McCormack, M.D., M.T.R.

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Associate Professor of Pediatrics (Endocrinology and Diabetes)
Attending Physician, The Children's Hospital of Philadelphia
Attending Physician, Hospital of the University of Pennsylvania
Faculty, Center for Mitochondrial and Epigenomic Medicine & Mitochondrial Medicine Frontier Program, Children's Hospital of Philadelphia
Faculty, Institute of Diabetes, Obesity, and Metabolism and Diabetes Research Center, University of Pennsylvania
Scientific Director, Neuroendocrine Center, Children's Hospital of Philadelphia
Co-Director, Friedreich's Ataxia Center of Excellence, Cardio-Metabolic Core, Children's Hospital of Philadelphia
Faculty, Cardiovascular Institute, Children's Hospital of Philadelphia and University of Pennsylvania
Department: Pediatrics

Contact information
Children’s Hospital of Philadelphia
3500 Civic Center Boulevard
Division of Endocrinology and Diabetes
12th Floor, Buerger Center
Philadelphia, PA 19104
Office: (215) 590 - 3174
Fax: (215) 590 - 3053
A.B. (Biochemical Sciences)
Harvard College, 1999.
M.D. (Health Sciences and Technology Program)
Harvard Medical School and Massachusetts Institute of Technology, 2005.
M.T.R (Translational Research)
University of Pennsylvania School of Medicine, 2015.
NA (Research Mentor Training: Effective Communication and Aligning Expectations)
University of Pennsylvania, 2022.
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Description of Clinical Expertise

I care for children with pediatric endocrine disease. I have a clinical focus on patients with endocrine dysfunction related to individually rare neuroendocrine and metabolic disorders. I serve as scientific director for CHOP's Neuroendocrine Center.

I care for children with endocrine complications of primary mitochondrial disease and Freidreich Ataxia. I collaborate with CHOP's Mitochondrial Medicine Frontiers Program and CHOP's Friedreich Ataxia Center of Excellence. I also care for children inherited and acquired forms of hypothalamic and pituitary dysfunction, with a focus on hypothalamic obesity and diabetes insipidus.

Description of Research Expertise

My translational research program focuses on children and adults with rare disorders that impact neuroendocrine and metabolic function. Our goal is to improve the lives of affected individuals and their families.

We study two main disease areas. First, we study mitochondrial forms of diabetes that occur in the setting of genetic disorders like Friedreich’s Ataxia that impact mitochondrial metabolism. Second, we study hypothalamic obesity and pituitary hormone deficiencies that result from hypothalamic/pituitary tumors, with a focus on craniopharyngioma.

We perform mechanistic studies and clinical trials to develop new therapeutic approaches. To do this work, we develop novel techniques for in vivo assessments of metabolism, mitochondrial bioenergetics, and neuroendocrine function in humans using, for example, non-invasive imaging techniques, stable isotope tracing, and integrated metabolomics and proteomics. We also develop innovative strategies to assess body composition and statistically model pediatric growth in health and disease, and collaborate with CHOP/Penn colleagues to understand the contribution of nuclear and mitochondrial genetics to metabolic phenotypes. Insights from these rare metabolic conditions may help us to better understand and treat more widespread problems related to energy balance, including obesity and diabetes.

Selected Publications

Cilenti NA, Tamaroff JG, Capiola CJ, Faig W, McBride MG, Paridon SM, O'Malley S, Edelson JB, Lynch DR, McCormack SE, Lin KY: Cardiopulmonary exercise testing on adaptive equipment in children and adults with Friedreich ataxia. Muscle Nerve 69(5): 613-619, May 2024.

McCormack SE, Roth CL: Acquired hypothalamic obesity: A clinical overview and update. Diabetes Obes Metab 26: Suppl 2:34-45, Apr 2024.

Bruner WS, Grant SFA, McCormack SE: Obesity: genetics. eLS 2024.

DiVito D, Wellik A, Burfield J, Peterson J, Flickinger J, Tindall A, Albanowski K, Vishnubhatt S, MacMullen L, Martin I, Muraresku C, McCormick E, George-Sankoh I, McCormack S, Goldstein A, Ganetzky R, Yudkoff M, Xiao R, Falk MJ, R Mascarenhas M, Zolkipli-Cunningham Z: Optimized nutrition in mitochondrial disease correlates to improved muscle fatigue, strength, and quality of life. Neurotherapeutics Sep 2023.

Bhandari R, Armenian SH, McCormack S, Natarajan R, Mostoufi-Moab S. : Diabetes in childhood cancer survivors: emerging concepts in pathophysiology and future directions. Front Med Aug 2023.

McCormack SE, Zemel BS: What's past is prologue: growth in infants born from pregnancies complicated by SARS-CoV-2 infection. J Clin Endocrinol Metab Apr 2023.

Marshall E, Joshi N, Crowley J, McCormack S, Cheng S, Faig W, Storm PJB, Resnick A, Mueller S, Malbari F, Kline C : Retrospective dataset and survey analyses identify gaps in data collection for craniopharyngioma and priorities of patients and families affected by the disease. Neoplasia Page: 37:100873, Mar 2023.

McCormack SE, Wang Z, Wade KL, Dedio A, Cilenti N, Crowley J, Plessow F, Bamba V, Roizen JD, Jiang Y, Stylli J, Ramakrishnan A, Platt ML, Shekdar K, Fisher MJ, Vetter VL, Hocking MC, Xiao R, Lawson EA: A pilot randomized clinical trial of intranasal oxytocin to promote weight loss in individuals with hypothalamic obesity. J Endocr Soc Mar 2023.

Kamoun C, Tamaroff J, Cuddapah S, Yukdoff M, McCormack S, Gold JI: Euglycemic diabetic ketoacidosis related to SGLT2 inhibitor use in a patient with cobalamin C deficiency and diabetes. Ann Intern Med Clin Cases Page: In press, Jan 2023.

Roof E, Deal CL, McCandless SE, Cowan RK, Miller JL, Hamilton JK, Roeder ER, McCormack SE, Roshan Lal TR, Abdul-Latif HD, Haqq AM, Obrynba KS, Torchen LC, Vidmar AP, Viskochil DH, Chanoine JP, Lam CKL, Pierce MJ, Williams LL, Bird LM, Butler MG, Jensen DE, Myers SE, Oatman OJ, Baskaran C, Chalmers LJ, Fu C, Alos N, McLean SD, Shah A, Whitman BY, Blumenstein BA, Leonard SF, Ernest JP, Cormier JW, Cotter SP, Ryman DC: Intranasal carbetocin reduces hyperphagia, anxiousness and distress in Prader-Willi Syndrome: CARE-PWS phase 3 trial. J Clin Endocrinol Metab Jan 2023.

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Last updated: 05/20/2024
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