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Portrait of Deborah Merke
Deborah Merke, MD, MS

Senior Investigator
Chief, Pediatric Service
Head, Section on Congenital Disorders


Pediatric Service


BS, University of Massachusetts, Amherst
MS, Columbia University School of Public Health, New York
MD, State University of New York at Buffalo


Email: dmerke@nih.gov
Phone: 301-496-0718

Portrait of Deborah Merke
Deborah Merke, MD, MS

Senior Investigator
Chief, Pediatric Service
Head, Section on Congenital Disorders


Pediatric Service


BS, University of Massachusetts, Amherst
MS, Columbia University School of Public Health, New York
MD, State University of New York at Buffalo


Email: dmerke@nih.gov
Phone: 301-496-0718


Dr. Deborah Merke's research focuses on congenital adrenal hyperplasia (CAH), a rare genetic disease of the adrenal gland that is part of the routine newborn screen.


Dr. Merke is a Senior Investigator, Chief of the Pediatric Service, 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, a position she still holds. In this position, she oversees the care of pediatric patients at the Clinical Center, 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. Her group identified that about 10 percent of patients with CAH have a contiguous gene deletion syndrome resulting in a novel connective tissue disorder named CAH-X. Central to her work is the study of new treatments, including a long-term trial testing sex hormone blockade in children, and novel ways of replacing cortisol, including the study of physiological cortisol 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.

Journal Articles

Kolli V, Kim H, Torky A, Lao Q, Tatsi C, Mallappa A, Merke DP. Characterization of the CYP11A1 Non-synonymous Variant p.E314K in Children Presenting with Adrenal Insufficiency. J Clin Endocrinol Metab. 2019; 104(2):269-276. PMID:30299480

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

Bornstein SR, Allolio B, Arlt W, Barthel A, Don-Wauchope A, Hammer GD, Husebye ES, Merke DP, Murad MH, Stratakis CA, Torpy DJ. Diagnosis and Treatment of Primary Adrenal Insufficiency: An Endocrine Society Clinical Practice Guideline. J Clin Endocrinol Metab. 2016; 101(2):364-89. PMID:26760044

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

Morissette R, Chen W, Perritt AF, Dreiling JL, Arai AE, Sachdev V, Hannoush H, Mallappa A, Xu Z, McDonnell NB, Quezado M, Merke DP. Broadening the Spectrum of Ehlers Danlos Syndrome in Patients with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency: A Novel TNXB Variant Leads to CAH-X Syndrome. J Clin Endocrinol Metab. 2015; 100(8):E1143-52. PMID:26075496

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.

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.

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.

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.

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.

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, 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.


  • 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
  • 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

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This page last updated on 02/22/2019

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