Deborah P.
Merke, MD, MS
Senior Investigator
Chief, Department of Pediatrics
Head, Section on Congenital Disorders
301-496-0718
Dr. Deborah P. Merke's is well known for her expertise in the management of congenital adrenal hyperplasia (CAH), a rare genetic disease of the adrenal gland that is part of the routine newborn screen. She has led pivotal studies in the genetics, pathophysiology and development of novel treatment approaches to CAH.
BS, University of Massachusetts, Amherst
MS, Columbia University School of Public Health, New York
MD, State University of New York at Buffalo
Dr. Merke is a Senior Investigator, Chief of the Department of Pediatrics, and Head of the Section on Congenital Disorders at the NIH Clinical Center.
After receiving a master of science degree in biostatistics from Columbia University and a medical degree from State University of New York at Buffalo, Dr. Merke completed her Pediatric residency at the Children's Hospital of Philadelphia and Pediatric Endocrinology fellowship at the Eunice Kennedy Shriver National Institute of Child Health and Human Development. 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, Dr. Merke remained at NICHD studying CAH and is now considered a world expert in CAH.
In 1999, Dr. Merke was appointed Chief of the Pediatric Service at the NIH Clinical Center. In this position, she oversaw the care of pediatric patients at the Clinical Center, and headed the Pediatric Consult Service. Under her leadership, the Pediatric Consult Service grew and in 2022 the Clinical Center established a new Department, the Department of Pediatrics, with Dr. Merke the inaugural chief. As Chief of the Department of Pediatrics, she established the first Pediatric Hospital Medicine Service at the Clinical Center, creating a unified model of care for pediatric inpatients than functions across Institutes and emphasizes compassionate, age-appropriate, high quality care. Dr. Merke also chairs the Pediatric Care Committee, the organizational committee responsible for overseeing clinical policies and guidelines for managing pediatric patient care.
As a Senior Investigator, she maintains a joint appointment with NICHD.
Dr. Merke has made significant contributions to the study of CAH. Her group has explored genetic variability in relation to phenotype and defined a novel connective tissue phenotype in approximately 15% of CAH patients due to a contiguous gene deletion syndrome, named CAH-X Syndrome. She was the first to identify adrenaline deficiency as a new hormonal imbalance in CAH, identified that patients with CAH have smaller-than-normal amygdalas (the part of the brain that regulates emotion) and identified problems with hydrocortisone suspension; this was a common medication used by patients with CAH, and Dr. Merke's studies led to a product recall. 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.
She currently is conducting the largest ever Natural History Study of CAH, with over 400 patients enrolled in study that aims to broaden our understanding of the disease process.
She has published widely in New England Journal of Medicine, Lancet, Journal of the American Medical Association, and Journal of Clinical Endocrinology and Metabolism, and in other medical journals.
See her Intramural Research Program bio page.
- NIH Clinical Center Director’s Award, in recognition of significant contributions to the study of circadian hormone replacement in patients with adrenal insufficiency, 2017
- NIH Clinical Center CEO Award, in recognition of the establishment of Pediatric Monitored Beds Team, 2017
- Elected Member, Pediatric Endocrinology Subboard, American Board of Pediatrics, 2009-2015
- Pioneer Award, Congenital Adrenal Hyperplasia Research, Education and Support (CARES) Foundation, Inc., in recognition of work with CAH patients, contributions to CAH research and quality patient care, 2011
- USPHS Outstanding Service Medal for Conducting Outstanding Clinical Research and Building an Internationally Renowned Research Program to Further Understanding of Congenital Adrenal Hyperplasia, 2010
- Congenital Adrenal Hyperplasia Research, Education and Support Foundation, Inc. grant in support of research in the area of congenital adrenal hyperplasia, 2005 - 2009;
- NIH Fellows Award for Research Excellence, 1997
- NIH Clinical Research Loan Repayment and Scholarship Award, 1996
- Dr. Louis Sklarow Memorial Award for outstanding graduate in medicine, SUNY at Buffalo, 1991
- Alpha Omega Alpha Society, 1990
Merke DP, Mallappa A, Arlt W, Brac de la Perriere A, Hirschberg AL, Juul A, Newell-Price J, Perry CG, Prete A, Rees DA, Reisch N, Stikkelbroeck N, Tourraine 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. PMID: 33527139
Torky A, Sinaii N, Jha S, Mallappa A, El-Maouche, D, Merke DP. The Development of Cardiovascular Disease Risk Factors and Metabolic Morbidity in a Longitudinal Study of Congenital Adrenal Hyperplasia. J Clin Endocrinol Metab. 2021; PMID: 33677504.
Chosen as JCEM Featured Article of the Week.
Kolli V, Werneck da Cunha I, Kim SA, Iben JR, Mallappa A, Li T, Gaynor A, Coon SI, Quezado MM, Merke DP. Morphologic and molecular characterization of adrenals and adrenal rest affected by congenital adrenal hyperplasia. Frontiers in Endocrinology, eCollection 2021. PMID: 34616364
Mallappa A, Merke DP. Management challenges and therapeutic advances in congenital adrenal hyperplasia. Nat Rev Endocrinol 2022; 18(6):337-352. PMID: 35411073 Lao Q, Brookner B, Merke DP. High Throughput Screening for CYP21A1P-TNXA/TNXB Chimeric Genes Responsible for Ehlers Danlos Syndrome in Patients with Congenital Adrenal Hyperplasia. J Mol Diagn 2019; 21(5):924-931. PMID:31229653
Merke DP, Auchus RJ. Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency. N Engl J Med 2020;.83(13):1248-1261. PMID: 32966723
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. PMID: 29584889
Chosen for the Endocrine Society Thematic Issue on Rare Disorders. Selection based on high Altmetric Attention Score
Lao Q, Des Jardin M, Jayakrishnan R, Ernst M, Merke DP. Complement component 4 variations may influence psychopathology risk in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Human Genetics. 2018; 137(11-12):955-960
Speiser PW, Arlt W, Auchus RJ, Baskin LS, Conway GS, Merke DP, Meyer-Bahlburg HFL, Miller WL, Murad MH, Oberfield SE, White PC. Congenital Adrenal Hyperplasia due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline. J Clin Endocrinol Metab. 2018; 103(11):4043-4088. PMID:30272171
Turcu AF, Mallappa A, Elman M, Avila NA, Marko J, Rao H, Tsodikov A, Auchus R, Merke DP. 11-Oxygenated Androgens are Biomarkers of Adrenal Volume and Testicular Adrenal Rest Tumors in 21-Hydroxylase Deficiency. J Clin Endocrinol Metab. 2017; 102(8):2701-10. PMID:28472487
El-Maouche D, Arlt W, Merke DP. Congenital Adrenal Hyperplasia. Lancet. 2017; 390(10108):2194-2210. PMID: 28576284
Hannah-Shmouni F, Morissette R, Sinai N, Elman M, Prezant TR, Chen W, Pulver A, Merke DP. Revisiting the Prevalence of Nonclassic Congenital Adrenal Hyperplasia in U.S. Ashkenazi Jews and Caucasians. Genet Med. 2017; 19(11):1276-79. PMID:28541281
Nella AA, Mallappa A, Perritt AF, Gounden V, Kumar P, Sinaii N, Daley LA, Ling A, Liu CY, Soldin SJ, Merke DP. A Phase 2 Study of Continuous Subcutaneous Hydrocortisone Infusion in Adults with Congenital Adrenal Hyperplasia. J Clin Endocrinol Metab. 2016; 101(12):4690-8. PMID:27680873
Merke DP, Chen W, Morissette R, Xu Z, VanRyzin C, Sachdev V, Hannoush H, Shanbhag SM, Acevedo AT, Nishitani M, Arai A, 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.PMID:23284009
Visit PubMed.gov for a full list of Dr. Merke's publications.