Deborah P. Merke, M.D., M.S.
Pediatric Consult Service
NIH Clinical Center
Dr. Merke has made significant contributions to the study of CAH, including the novel finding of adrenaline deficiency in patients with CAH; the discovery that patients with CAH have smaller-than-normal amygdalas (the part of the brain that regulates emotion); and identification of problems with hydrocortisone suspension, a common medication used by patients with CAH. (Dr. Merke's studies led to a product recall). She currently is conducting the largest ever Natural History Study of CAH, with more than 250 patients enrolled in a study that aims to broaden our understanding of the disease process.
Dr. Merke leads an effort to expand our understanding of the pathophysiology and clinical manifestations of CAH. As part of this work, her group has explored genetic variability in relation to phenotype and has defined a novel connective tissue phenotype in a subset of CAH patients due to a contiguous gene deletion syndrome, termed here CAH-X Syndrome.
Central to her work is the study of new treatments, including a long-term trial testing an antiandrogen and aromatase inhibitor to block excess hormones, and the study of a newly developed form of hydrocortisone which mimics circadian cortisol secretion. She received grants (2005 to 2009) from the Congenital Adrenal Hyperplasia Research, Education and Support Foundation. She has published widely in New England Journal of Medicine, Lancet, Journal of the American Medical Association, the Journal of Clinical Endocrinology and Metabolism, and in other medical journals.
Dr. Merke graduated cum laude from the University of Massachusetts, received a master of science degree in biostatistics from Columbia University, and earned her medical degree from the State University of New York at Buffalo. During medical school, she was elected to the Alpha Omega Alpha Society. She completed her pediatric residency at the Children's Hospital of Philadelphia and a fellowship in pediatric endocrinology at the National Institute of Child Health and Human Development (NICHD). As a fellow, she received an NIH Clinical Research Loan Repayment and Scholarship Award and an NIH Fellows Award for Research Excellence. After completion of her fellowship, she remained at NICHD, studying congenital adrenal hyperplasia, a rare disease of the adrenal gland. Dr. Merke is now considered a world expert in CAH.
In 1999, Dr. Merke was appointed Chief of Pediatric Services for the NIH Clinical Center. In this position, she oversees the care of pediatric patients at the CC, heads the Pediatric Consult Service, and chairs the Pediatric Care Committee, the organizational committee responsible for overseeing clinical policies and guidelines for managing pediatric patient care.
- Merke DP, Auchus RJ. Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency. N Engl J Med. 2020;383(13):1248-1261.
- Merke DP, Mallappa A, Arlt W, Brac de la Perriere A, Lindén Hirschberg A, Juul A, Newell-Price J, Perry CG, Prete A, Rees DA, Reisch N, Stikkelbroeck N, Touraine P, Maltby K, Treasure FP, Porter J, Ross RJ. Modified-Release Hydrocortisone in Congenital Adrenal Hyperplasia. J Clin Endocrinol Metab. 2021;106(5):e2063-e2077.
- El-Maouche D, Hargreaves CJ, Sinaii N, Mallappa A, Veeraraghavan P, Merke DP. Longitudinal Assessment of Illnesses, Stress Dosing, and Illness Sequelae in Patients With Congenital Adrenal Hyperplasia. J Clin Endocrinol Metab. 2018;103(6):2336-2345.
- Merke DP, Chen W, Morissette R, Xu Z, Van Ryzin C, Sachdev V, Hannoush H, Shanbhag SM, Acevedo AT, Nishitani M, Arai AE, McDonnell NB. Tenascin-X haploinsufficiency associated with Ehlers-Danlos syndrome in patients with congenital adrenal hyperplasia. J Clin Endocrinol Metab. 2013;98(2):E379-87.
- Hannah-Shmouni F, Morissette R, Sinaii N, Elman M, Prezant TR, Chen W, Pulver A, Merke DP. Revisiting the prevalence of nonclassic congenital adrenal hyperplasia in US Ashkenazi Jews and Caucasians. Genet Med. 2017;19(11):1276-1279.
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This page was last updated on Saturday, August 20, 2022