NIH Clinical Center Senior Staff
Deborah Merke, MD, MS
Dr. Deborah Merke is a Senior Investigator and Chief of Pediatric Services at the NIH Clinical Center. Her research focuses on congenital adrenal hyperplasia (CAH), a rare genetic disease of the adrenal gland that is part of the routine newborn screen.
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 National Institute of Child Health and Human Development, NIH. 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 Pediatric Services for the NIH Clinical Center, a position she still holds. 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. As a Senior Investigator, she maintains a joint appointment with NICHD.
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; this is a common medication used by patients with CAH, and Dr. Merke's studies led to a product recall. She currently is conducting the largest ever Natural History Study of CAH, with over 350 patients enrolled in study that aims to broaden our understanding of the disease process. Her group recently found that patients with CAH due to 21-hydroxylase deficiency commonly have a contiguous gene deletion syndrome resulting in CAH with a connective tissue dysplasia, representing a novel phenotype termed CAH-X. 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. Her group is also conducting a study of physiological cortisol replacement through use of continuous subcutaneous hydrocortisone infusion via a pump.
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, and Journal of Clinical Endocrinology and Metabolism, and in other medical journals.
Honors and Awards
Pioneer Award, Congenital Adrenal Hyperplasia Research, Education and Support (CARES) Foundation, Inc.
Award 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
BOOKS AND BOOK CHAPTERS
Charmandari E, Chrousos GP, Merke DP. Classic congenital adrenal hyperplasia. In: Adrenal Glands: diagnostic aspects and surgical therapy, Chapter 10, pp 101-114. Linos DA, VanHeerden JA, eds., Springer-Verlag, Germany 2005.
Merke DP, Cutler GB. New ideas for medical treatment of Congenital Adrenal Hyperplasia. Endocrinology and Metabolism Clinics of North America 30:121-135, 2001.
Merke DP, Camacho CA. Novel Basic and Clinical Aspects of Congenital Adrenal Hyperplasia. Reviews in Endocrine & Metabolic Disorders 2:289-296, 2001.
Miller RW, Merke DP. Radiation injury. In: Nelson WE et al, eds., Nelson Textbook of Pediatrics, 15th ed. W.B. Saunders, Philadelphia, 2002-4, 1996.
Mallappa A, Sinaii N, Kumar P, Whitaker MJ, Daley LA, Digweed D, Eckland DJA, VanRyzin C, Nieman LK, Arlt W, Ross RJ, Merke DP. A phase 2 study of Chronocort®, a modified-release formulation of hydrocortisone, in the treatment of adults with classic congenital adrenal hyperplasia, J Clin Endocrinol Metab 100:1137-45, 2015.
Morissette R, Merke DP, McDonnell NB. Transforming growth factor-ß (TBG-ß) pathway abnormalities in tenascin-X deficiency associated with CAH-X syndrome. Eur J Med Genet. 57:95-102, 2014.
Merke DP, Poppas DP. Management of adolescents with congenital adrenal hyperplasia. Lancet Diabetes and Endocrinol. 1:341-52, 2013.
Merke DP, Chen W, Morisette 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. 98:E379-87, 2013.
Chen W, Xu Z, Sullivan A, Finkielstain GP, VanRyzin C, Merke DP, McDonnell NB. Junction Site Analysis of Chimeric CYP21A1P/CYP21A2 Genes in 21-Hydroxylase Deficiency. Clin Chem 58:421-30, 2012.
Crocker MK, Barak S, Millo CM, Niyyati M, Beall SA, Chang R, Avila NA, VanRyzin C, Segars J, Quezado M, Merke DP. Use of PET/CT Scan to Identify and Localize Adrenal Rest Tissue Following Adrenalectomy in a Woman with Congenital Adrenal Hyperplasia. J Clin Endocrinol Metab. 97:E2084-89, 2012.
Finkielstain GP, Kim MS, Sinaii N, Nishitani M, VanRyzin C, Reynolds J, Hanna RM, Merke DP. Clinical Characteristics of a Cohort of 244 Patients with Congenital Adrenal Hyperplasia. J Clin Endocrinol Metab. 97:4429-38, 2012.
Nandagopal R, Sinaii N, Avila NA, VanRyzin C, Chen W, Finkielstain GP, Mehta SP, McDonnell NB, Merke DP. Phenotypic Profiling of Parents with Cryptic Nonclassic Congenital Adrenal Hyperplasia: Findings in 145 Unrelated Families. Eur J Endocrinol. 2011; Mar 28, Epub ahead of print.
Finkielstain GP, Chen W, Mehta S, Fujimura FK, Hanna RM, VanRyzin C, McDonnell NB, Merke DP. Comprehensive Genetic Analysis of 182 Unrelated Families with Congenital Adrenal Hyperplasia due to 21- Hydroxylase Deficiency. J Clin Endocrinol Metab 96:E161-E172, 2011.
Speiser PW, Azziz R, Baskin LS, Ghizzoni L, Hensle TW, Merke DP, Meyer-Bahlburg HFL, Miller WL, Montori VM, Oberfield SE, Ritzen M, White PC. Congenital Adrenal Hyperplasia Due to Steroid 21-hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline. J Clin Endocrinol Metab 95:4133-4160, 2010.
Verma S, Van Ryzin C, Sinaii N, Kim MS, Nieman LK, Ravindran S, Arlt WA, Ross, RJ, Merke DP. A Pharmacokinetic and Pharmacodynamic Study of Delayed and Extended Release Hydrocortisone (Chronocort™ ) versus Conventional Hydrocortisone (Cortef™) in the Treatment of Congenital Adrenal Hyperplasia. Clin Endocrinol 72:441-447, 2010.
Ernst M, Maheu FS, Schroth E, Hardin J, Golan LG, Cameron J, Allen R, Holzer S, Nelson E, Pine D, Merke DP. Amygdala function in congenital adrenal hyperplasia: a model for the study of early steroid abnormalities. Neuropsychologia 45:2104-2113, 2007.
Merke DP and Bornstein SR. Seminar: Congenital Adrenal Hyperplasia. The Lancet 365:2125-2136, 2005.
Weise M, Mehlinger SL, Drinkard B, Rawson E, Charmandari E, Hiroi M, Eisenhofer G, Yanovski JA, Chrousos GP, Merke DP. Patients with classic congenital adrenal hyperplasia have decreased epinephrine reserve and defective glucose elevation in response to high intensity exercise. J Clin Endocrinol Metab 89:591-597, 2004.
Merke DP, Fields JD, Keil MF, Vaituzis AC, Chrousos GP, Giedd JN. Children with classic congenital adrenal hyperplasia have decreased amygdala volume: Potential prenatal and postnatal hormonal effects. J Clin Endocrinol Metab 88:1760-1765, 2003.
Charmandari E, Weise M, Bornstein SR, Eisenhofer G, Keil MF, Chrousos GP, Merke DP. Children with classic congenital adrenal hyperplasia have elevated serum leptin concentrations and insulin resistance: Potential clinical implications. J Clin Endocrinol Metab 87:2114-2120, 2002.
Merke DP, Bornstein SR, Avila NA, Chrousos GP. NIH Conference. Future directions in the study and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Annals of Internal Medicine 136:320-334, 2002.
Merke DP, Cho D, Calis KA, Keil MF, Chrousos GP. Hydrocortisone suspension and hydrocortisone tablets are not bioequivalent in the treatment of children with congenital adrenal hyperplasia. J Clin Endocrinol Metab 86:441-445, 2001.
Merke DP, Chrousos GP, Eisenhofer G, Weise M, Keil M, Rogol AD, Van Wyk JJ, Bornstein SR. Adrenomedullary dysplasia and hypofunction in patients with classic 21-hydroxylase deficiency. N Engl J Med 343:1362-1368, 2000.
Merke DP, Keil M, Jones JV, Fields J, Hill S, Cutler GB. Flutamide, testolactone, and reduced hydrocortisone dose maintains normal growth velocity and bone maturation despite elevated androgen levels in children with congenital adrenal hyperplasia. J Clin Endocrinol Metab 85:1114-1120, 2000.
Merke DP, Tajima T, Baron J, Cutler GB. Hypogonadotropic hypogonadism in a female caused by an X-linked recessive mutation in the DAX-1 gene. N Engl J Med 340:1248-1252, 1999.
Merke DP, Bornstein SR, Braddock D, Chrousos GP. Adrenal lymphocytic infiltration and adrenocortical tumors in a patient with 21-hydroxylase deficiency. N Engl J Med 340:1121-1122, 1999.
Merke DP, Cutler GB. New approaches to the treatment of congenital adrenal hyperplasia. JAMA 277:1073-6, 1997.
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This page last updated on 07/06/2017