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

faculty photo
Assistant Professor of Pediatrics
Attending Physician, The Children's Hospital of Philadelphia
Attending Physician, Hospital of the University of Pennsylvania
Faculty, Institute of Diabetes, Obesity, and Metabolism and Diabetes Research Center, University of Pennsylvania
Faculty, Center for Mitochondrial and Epigenomic Medicine, Children's Hospital of Philadelphia
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
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.
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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

Vásquez-Trincado C, Dunn J, Han JI, Hymms B, Tamaroff J, Patel M, Nguyen S, Dedio A, Wade K, Enigwe C, Nichtova Z, Lynch DR, Csordas G, McCormack SE, Seifert E: Frataxin deficiency lowers lean mass and triggers the integrated stress response in skeletal muscle. JCI Insight 7(9): e155201, May 2022 Notes: DOI: 10.1172/jci.insight.155201.

Craven M, Crowley JH, Chiang L, Kline C, Malbari F, Hocking MC, McCormack SE.: A survey of patient-relevant outcomes in pediatric craniopharyngioma: focus on hypothalamic obesity. Front Endocrinol May 2022 Notes:

Tamaroff J, DeDio A, Wade K, Wells M, Park C, Leavens K, Rummey C, Kelly A, Lynch DR, McCormack SE: Friedreich's Ataxia related diabetes: epidemiology and management practices. Diabetes Res Clin Pract 186: 109828, Apr 2022 Notes: DOI: 10.1016/j.diabres.2022.109828.

Kindler JM, Guo M, Baker J, McCormack S, Armenian SH, Zemel BS , Leonard MB, Mostoufi-Moab S: Persistent musculoskeletal deficits in pediatric, adolescent and young adult survivors of allogeneic hematopoietic stem-cell transplantation. J Bone Miner Res 37(4): 794-803, Apr 2022.

Dunn J, Tamaroff J, DeDio A, Nguyen S, Wade K, Cilenti N, Weber DR, Lynch DR, McCormack SE: Bone mineral density and current bone health screening practices in Friedreich's Ataxia. Front Neurosci 16: 818750, Mar 2022 Notes: DOI: 10.3389/fnins.2022.818750.

Bhandari R, Teh JB, He T, Peng K, Iukuridze A, Atencio L, Nakamura R, Mostoufi-Moab S, McCormack S, Lee K, Wong FL, Armenian SH: Association between body composition and development of glucose intolerance after allogeneic hematopoietic cell transplantation. BMC Cancer in press 2022.

Ehinger JK, Karlsson M, Sjövall F, Leffler M, McCormack SE, Kubis SE, Åkesson A, Falk MJ, Kilbaugh TJ: Predictors of outcome in children with disorders of mitochondrial metabolism in the pediatric intensive care unit. Pediatr Res 90(6): 1221-1227, Dec 2021.

Patel M, McCormick A, Tamaroff J, Dunn J, Mitchell JA, Lin KY, Farmer J, Rummey C, Perlman SL, Delatycki MB, Wilmot GR, Mathews KD, Yoon G, Hoyle J, Corti M, Subramony SH, Zesiewicz T, Lynch DR, McCormack SE: Body mass index and height in the Friedreich Ataxia Clinical Outcome Measures Study. Neurol Genet 7(6): e638, Nov 2021.

Grgic O*, Gazzara RM*, Chesi A, Medina-Gomez C, Cousminer DL, Mitchell JA, Prijatelj V, de Vries J, Sheroja E, McCormack SE, Kalkwarf HJ, Lappe JM, Gilsanz V, Oberfield SE, Shepherd JA, Kelly A, Mahboubi S, Faucz FR, Feelders RA, de Jong FH, Uitterlinden AG, Visser JA, Ghanem LR, Wolvius EB, Hofland LJ, Stratakis CA, Zemel BS, Barash Y, Grant SFA, Rivadeneira F: CYP11B1 variants influence skeletal maturation via alternative splicing. Commun Biol 4(1): 1274, Nov 2021.

Jensen AK, Sheldon CA, Paley GL, Szperka CL, Liu GW, Liu GT, McCormack SE: Autism spectrum disorder in pediatric idiopathic intracranial hypertension. eLife 11(9): 972, Sep 2021.

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Last updated: 06/21/2022
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