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Deborah P. Merke, MS, MD

Senior Investigator
NIH
Bethesda, MD, United States

Dr. Merke is a Senior Investigator and Chief of the Department of Pediatrics at the National Institutes of Health Clinical Center in Bethesda, Maryland. Dr. Merke and her group study congenital disorders of steroidogenesis, especially congenital adrenal hyperplasia (CAH). She has led pivotal studies in the genetics, pathophysiology and development of novel treatment approaches to CAH. She is currently conducting a Natural History Study of CAH at the NIH with over 450 patients enrolled, allowing for longitudinal characterization of disease-related and treatment-related co-morbidities. As part of this longitudinal study, her group defined CAH-X, a novel contiguous gene deletion syndrome associated with hypermobility-type Ehlers Danlos Syndrome, present in approximately 15% of patients with CAH. Her group was the first to identify adrenaline deficiency as a new hormonal imbalance in CAH and developed the first validated CAH-specific patient reported outcome (PRO) tool to measure health-related quality of life outcomes in CAH. Central to her work is the study of new treatments, including circadian cortisol replacement, and the use of adjuvant therapies to allow for lower dose glucocorticoid replacement. Dr. Merke lectures nationally and internationally and has published widely, with over 150 peer-reviewed publications and 16 book chapters in the area of adrenal disorders, including an invited review of CAH in the New England Journal of Medicine.

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