D Merke

Summary

Affiliation: National Institutes of Health
Country: USA

Publications

  1. doi request reprint Management of adolescents with congenital adrenal hyperplasia
    Deborah P Merke
    National Institutes of Health Clinical Center and Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD, USA Electronic address
    Lancet Diabetes Endocrinol 1:341-52. 2013
  2. pmc Tenascin-X haploinsufficiency associated with Ehlers-Danlos syndrome in patients with congenital adrenal hyperplasia
    Deborah P Merke
    National Institutes of Health Clinical Center, Building 10, CRC, Room 1 2740, 10 Center Drive, MSC 1932, Bethesda, Maryland 20892 1932, USA
    J Clin Endocrinol Metab 98:E379-87. 2013
  3. pmc Clinical characteristics of a cohort of 244 patients with congenital adrenal hyperplasia
    Gabriela P Finkielstain
    Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health NIH, Bethesda, Maryland 20892, USA
    J Clin Endocrinol Metab 97:4429-38. 2012
  4. doi request reprint Adrenomedullary function in patients with nonclassic congenital adrenal hyperplasia
    S Verma
    the Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, Maryland, USA
    Horm Metab Res 42:607-12. 2010
  5. ncbi request reprint The adrenal life cycle: the fetal and adult cortex and the remaining questions
    Deborah P Merke
    Reproductive Biology and Medicine Branch, National Institute of Child Health, Bethesda, MD 20892 1932, USA
    J Pediatr Endocrinol Metab 19:1299-302. 2006
  6. ncbi request reprint Congenital adrenal hyperplasia
    Deborah P Merke
    Pediatric and Reproductive Endocrinology Branch, National Institute of Child Health and Human Development and the Warren Grant Magnuson Clinical Center, National Institutes of Health, Bethesda, MD 20892 1932, USA
    Lancet 365:2125-36. 2005
  7. ncbi request reprint Children experience cognitive decline despite reversal of brain atrophy one year after resolution of Cushing syndrome
    Deborah P Merke
    Pediatric and Reproductive Endocrinology Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892 1932, USA
    J Clin Endocrinol Metab 90:2531-6. 2005
  8. ncbi request reprint New ideas for medical treatment of congenital adrenal hyperplasia
    D P Merke
    Warren Grant Magnuson Clinical Center and the Pediatric and Reproductive Endocrinology Branch, National Institute of Child Health and Human Development of the National Institutes of Health, Bethesda, Maryland, USA
    Endocrinol Metab Clin North Am 30:121-35. 2001
  9. ncbi request reprint Congenital adrenal hyperplasia: epidemiology, management and practical drug treatment
    D Merke
    Warren Grant Magnuson Clinical Center, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892 1932, USA
    Paediatr Drugs 3:599-611. 2001
  10. ncbi request reprint Pubertal and gender-related changes in the sympathoadrenal system in healthy children
    Martina Weise
    Developmental Endocrinology Branch, National Institute of Child Health and Human Development NIH, Building 10, 10 Center Drive, Bethesda, MD 20892 1932, USA
    J Clin Endocrinol Metab 87:5038-43. 2002

Collaborators

Detail Information

Publications38

  1. doi request reprint Management of adolescents with congenital adrenal hyperplasia
    Deborah P Merke
    National Institutes of Health Clinical Center and Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD, USA Electronic address
    Lancet Diabetes Endocrinol 1:341-52. 2013
    ..Transition from paediatric to adult care is most successful when phased over many years. Education of health-care providers on how to successfully transition patients is greatly needed. ..
  2. pmc Tenascin-X haploinsufficiency associated with Ehlers-Danlos syndrome in patients with congenital adrenal hyperplasia
    Deborah P Merke
    National Institutes of Health Clinical Center, Building 10, CRC, Room 1 2740, 10 Center Drive, MSC 1932, Bethesda, Maryland 20892 1932, USA
    J Clin Endocrinol Metab 98:E379-87. 2013
    ..A contiguous deletion of CYP21A2 and TNXB has been described...
  3. pmc Clinical characteristics of a cohort of 244 patients with congenital adrenal hyperplasia
    Gabriela P Finkielstain
    Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health NIH, Bethesda, Maryland 20892, USA
    J Clin Endocrinol Metab 97:4429-38. 2012
    ..Patients with congenital adrenal hyperplasia (CAH) often suffer from long-term complications secondary to chronic glucocorticoid therapy and suboptimal treatment regimens...
  4. doi request reprint Adrenomedullary function in patients with nonclassic congenital adrenal hyperplasia
    S Verma
    the Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, Maryland, USA
    Horm Metab Res 42:607-12. 2010
    ..The degree of epinephrine deficiency in patients with CAH is associated with the severity of adrenocortical dysfunction, as well as glucocorticoid therapy...
  5. ncbi request reprint The adrenal life cycle: the fetal and adult cortex and the remaining questions
    Deborah P Merke
    Reproductive Biology and Medicine Branch, National Institute of Child Health, Bethesda, MD 20892 1932, USA
    J Pediatr Endocrinol Metab 19:1299-302. 2006
  6. ncbi request reprint Congenital adrenal hyperplasia
    Deborah P Merke
    Pediatric and Reproductive Endocrinology Branch, National Institute of Child Health and Human Development and the Warren Grant Magnuson Clinical Center, National Institutes of Health, Bethesda, MD 20892 1932, USA
    Lancet 365:2125-36. 2005
    ..This Seminar reviews the epidemiology, genetics, pathophysiology, diagnosis, and management of CAH, and provides an overview of clinical challenges and future therapies...
  7. ncbi request reprint Children experience cognitive decline despite reversal of brain atrophy one year after resolution of Cushing syndrome
    Deborah P Merke
    Pediatric and Reproductive Endocrinology Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892 1932, USA
    J Clin Endocrinol Metab 90:2531-6. 2005
    ..Despite rapid reversibility of cerebral atrophy, children experience a significant decline in cognitive function 1 yr after correction of hypercortisolism...
  8. ncbi request reprint New ideas for medical treatment of congenital adrenal hyperplasia
    D P Merke
    Warren Grant Magnuson Clinical Center and the Pediatric and Reproductive Endocrinology Branch, National Institute of Child Health and Human Development of the National Institutes of Health, Bethesda, Maryland, USA
    Endocrinol Metab Clin North Am 30:121-35. 2001
    ..The applicability and success of these new approaches await the results of current research...
  9. ncbi request reprint Congenital adrenal hyperplasia: epidemiology, management and practical drug treatment
    D Merke
    Warren Grant Magnuson Clinical Center, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892 1932, USA
    Paediatr Drugs 3:599-611. 2001
    ..New treatment approaches are currently under investigation in the most severely affected patients, while nonclassic CAH does not always require treatment...
  10. ncbi request reprint Pubertal and gender-related changes in the sympathoadrenal system in healthy children
    Martina Weise
    Developmental Endocrinology Branch, National Institute of Child Health and Human Development NIH, Building 10, 10 Center Drive, Bethesda, MD 20892 1932, USA
    J Clin Endocrinol Metab 87:5038-43. 2002
    ..Further studies are needed to investigate a possible modulatory role of the adrenal medulla in the body weight-related timing of adrenarche and/or gonadarche...
  11. pmc Body image in adolescents with disorders of steroidogenesis
    Cong Ning
    Developmental Endocrinology Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA
    J Pediatr Endocrinol Metab 21:771-80. 2008
    ..Little is known about body image in children with endocrine conditions. We evaluated body image in children with congenital adrenal hyperplasia (CAH), familial male precocious puberty (FMPP), and Cushing's syndrome (CS)...
  12. ncbi request reprint Patients with classic congenital adrenal hyperplasia have decreased epinephrine reserve and defective glycemic control during prolonged moderate-intensity exercise
    Liza Green-Golan
    National Institutes of Health Clinical Center, Bethesda, Maryland 20892 1932, USA
    J Clin Endocrinol Metab 92:3019-24. 2007
    ..Patients with classic congenital adrenal hyperplasia (CAH) have adrenomedullary dysplasia and hypofunction, and their lack of adrenomedullary reserve has been associated with a defective glucose response to brief high-intensity exercise...
  13. ncbi request reprint Aplasia cutis congenita following in utero methimazole exposure
    Smita K Baid
    Reproductive Biology and Medicine Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA
    J Pediatr Endocrinol Metab 20:585-6. 2007
  14. pmc Amygdala function in adolescents with congenital adrenal hyperplasia: a model for the study of early steroid abnormalities
    Monique Ernst
    Emotional Development and Affective Neuroscience Branch, National Institute of Mental Health, National Institutes of Health, MD 20892 2670, USA
    Neuropsychologia 45:2104-13. 2007
    ..This study provides data that can be further tested in a model of the neurobiological mechanisms underlying early androgen organizational effects on amygdala function...
  15. pmc Hypoglycemia during acute illness in children with classic congenital adrenal hyperplasia
    Margaret F Keil
    Reproductive Medicine and Biology Branch, National Institutes of Health, Bethesda, MD, USA
    J Pediatr Nurs 25:18-24. 2010
    ..Our data suggest that children with classic CAH may experience lowering of blood glucose during illnesses, and patient education regarding the management of common childhood illness should include glucose supplementation...
  16. pmc Steroid abnormalities and the developing brain: declarative memory for emotionally arousing and neutral material in children with congenital adrenal hyperplasia
    Francoise S Maheu
    Mood and Anxiety Disorders Program, Emotional Development and Affective Neuroscience Section, National Institute of Mental Health, 15K North Drive, Room 300 C, Bethesda, MD 20892 2670, USA
    Psychoneuroendocrinology 33:238-45. 2008
    ..Such memory impairments may result from abnormal brain organization and function following hormonal dysfunction during critical periods of development...
  17. pmc Approach to the adult with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
    Deborah P Merke
    National Institutes of Health Clinical Center, Reproductive Biology and Medicine Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892 1932, USA
    J Clin Endocrinol Metab 93:653-60. 2008
    ..Nevertheless, patients benefit from careful individualized therapy with avoidance of Cushingoid side effects and optimization of reproductive, sexual, and bone health...
  18. pmc Quality of life in children and adolescents 1-year after cure of Cushing syndrome: a prospective study
    Margaret F Keil
    Office of the Chief, Program on Developmental Endocrinology and Genetics PDEGEN, National Institute of Child Health and Human Development NICHD, Bethesda, MD 20892, USA
    Clin Endocrinol (Oxf) 71:326-33. 2009
    ..Cushing syndrome (CS) in children is associated with symptoms that may impair health related quality of life (HRQL). There are no prospective reports of HRQL in children with CS...
  19. ncbi request reprint Utility of plasma free metanephrines for detecting childhood pheochromocytoma
    Martina Weise
    Developmental Endocrinology Branch, National Institute of Child Health and Human Development, Bethesda, Maryland 20892, USA
    J Clin Endocrinol Metab 87:1955-60. 2002
    ..The findings indicate that plasma free metanephrines provide a sensitive tool for detection of pheochromocytoma in children. Age appropriate reference ranges should be used and gender differences should be considered...
  20. doi request reprint Psychiatric characterization of children with genetic causes of hyperandrogenism
    Sven C Mueller
    Section of Developmental and Affective Neuroscience, National Institute of Mental Health, NIH, 15K North Drive, Bethesda, Maryland 20892 1932, USA
    Eur J Endocrinol 163:801-10. 2010
    ..Very little is known about the mental health status in children with genetic causes of hyperandrogenism. This study sought to characterize psychiatric morbidity in this group...
  21. ncbi request reprint In boys with abnormal developmental tempo, maturation of the skeleton and the hypothalamic-pituitary-gonadal axis remains synchronous
    Armando Flor-Cisneros
    Developmental Endocrinology Branch, National Institutes of Health, Bethesda, Maryland 20892, USA
    J Clin Endocrinol Metab 89:236-41. 2004
    ..This synchrony is consistent with the hypothesis that in boys, skeletal maturation influences hypothalamic-pituitary-gonadal axis maturation...
  22. pmc Early hyperandrogenism affects the development of hippocampal function: preliminary evidence from a functional magnetic resonance imaging study of boys with familial male precocious puberty
    Sven C Mueller
    Emotional Development and Affective Neuroscience Branch, National Institute of Mental Health, National Institutes of Health, Bethesda, Maryland, USA
    J Child Adolesc Psychopharmacol 19:41-50. 2009
    ..In contrast, no significant activation of the amygdala was found. These data are consistent with previous studies of the effects of sex hormones on brain function and support the role of testosterone on emotional development...
  23. ncbi request reprint Adrenocorticotropin hypersecretion and pituitary microadenoma following bilateral adrenalectomy in a patient with classic 21-hydroxylase deficiency
    Evangelia Charmandari
    Pediatric and Reproductive Endocrinology Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA
    J Pediatr Endocrinol Metab 18:97-101. 2005
    ..v. bolus) and a low dose (0.5 mg given orally every 6 h for 48 h) dexamethasone suppression test. Patients with CAH have hyperactivity of the hypothalamic-pituitary-adrenal axis and are at risk for pituitary tumor formation...
  24. ncbi request reprint Children with classic congenital adrenal hyperplasia have elevated serum leptin concentrations and insulin resistance: potential clinical implications
    Evangelia Charmandari
    Pediatric and Reproductive Endocrinology Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA
    J Clin Endocrinol Metab 87:2114-20. 2002
    ....
  25. ncbi request reprint Stress dose of hydrocortisone is not beneficial in patients with classic congenital adrenal hyperplasia undergoing short-term, high-intensity exercise
    Martina Weise
    Developmental Endocrinology Branch, National Institutes of Health, Bethesda, Maryland 20892, USA
    J Clin Endocrinol Metab 89:3679-84. 2004
    ....
  26. ncbi request reprint Adrenomedullary function may predict phenotype and genotype in classic 21-hydroxylase deficiency
    Evangelia Charmandari
    Pediatric and Reproductive Endocrinology Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA
    J Clin Endocrinol Metab 87:3031-7. 2002
    ..Molecular genotype and plasma free metanephrine concentration predict phenotype with similar accuracy. Both methods are more accurate in the most severe forms of the disease...
  27. pmc Altered amygdala and hippocampus function in adolescents with hypercortisolemia: a functional magnetic resonance imaging study of Cushing syndrome
    Francoise S Maheu
    National Institute of Mental Health, Bethesda, MD, 20892 2670, USA
    Dev Psychopathol 20:1177-89. 2008
    ....
  28. ncbi request reprint Patients with classic congenital adrenal hyperplasia have decreased epinephrine reserve and defective glucose elevation in response to high-intensity exercise
    Martina Weise
    Developmental Endocrinology Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA
    J Clin Endocrinol Metab 89:591-7. 2004
    ..Whether the combination of epinephrine and cortisol deficiency poses a risk for hypoglycemia and/or decreased endurance during long-term physical stress has to be determined...
  29. ncbi request reprint Children with classic congenital adrenal hyperplasia have decreased amygdala volume: potential prenatal and postnatal hormonal effects
    Deborah P Merke
    Pediatric and Reproductive Endocrinology Branch, National Institute of Child Health and Human Development, The Warren Grant Magnuson Clinical Center, National Institutes of Health, Bethesda, Maryland 20892 1932, USA
    J Clin Endocrinol Metab 88:1760-5. 2003
    ....
  30. ncbi request reprint Use of aromatase inhibitors in precocious puberty
    P Feuillan
    Developmental Endocrinology Branch, NICHD, National Institutes of Health, Bethesda, Maryland 20892, USA
    Endocr Relat Cancer 6:303-6. 1999
    ..We conclude that suppressing of estrogen with testolactone was effective therapy, and that more potent and specific inhibitors of aromatase could further improve the treatment of these disorders...
  31. pmc A pharmacokinetic and pharmacodynamic study of delayed- and extended-release hydrocortisone (Chronocort) vs. conventional hydrocortisone (Cortef) in the treatment of congenital adrenal hyperplasia
    Somya Verma
    Reproductive Biology and Medicine Branch, the Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD, USA
    Clin Endocrinol (Oxf) 72:441-7. 2010
    ..We compared hormonal profiles during therapy with a new modified-release hydrocortisone (MR-HC), Chronocort, to conventional hydrocortisone (HC), Cortef, in patients with CAH...
  32. ncbi request reprint Effects of hormones and sex chromosomes on stress-influenced regions of the developing pediatric brain
    A Blythe Rose
    National Institute of Mental Health, National Institutes of Health, Bldg 10, Rm 4C110, 10 Center Drive, Bethesda, MD 20892, USA
    Ann N Y Acad Sci 1032:231-3. 2004
    ..Future studies that examine longitudinal data and/or other diagnostic groups, however, may help to better elucidate specific hormone and sex chromosome effects upon stress-related structures in the brain...
  33. ncbi request reprint Endocrinologic and psychologic evaluation of 21-hydroxylase deficiency carriers and matched normal subjects: evidence for physical and/or psychologic vulnerability to stress
    Evangelia Charmandari
    Pediatric and Reproductive Endocrinology Branch, National Institute of Child Health and Human Development, The Warren Grant Magnuson Clinical Center, National Institute of Mental Health, National Institutes of Health, Bethesda, Maryland 20892, USA
    J Clin Endocrinol Metab 89:2228-36. 2004
    ..These changes might predict mild predisposition of these subjects to physical and psychologic pathology, suggesting that larger studies are necessary...
  34. ncbi request reprint Flutamide decreases cortisol clearance in patients with congenital adrenal hyperplasia
    Evangelia Charmandari
    Pediatric and Reproductive Endocrinology Branch, National Institute of Child Health and Human Development NIH, 10 Center Drive, Building 10 Suite 9D42, Bethesda, MD 20892, USA
    J Clin Endocrinol Metab 87:3197-200. 2002
    ..Glucocorticoid replacement doses should be reduced when flutamide is added to the treatment regimen of patients receiving hydrocortisone...
  35. pmc Comprehensive genetic analysis of 182 unrelated families with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
    Gabriela P Finkielstain
    Program in Developmental Endocrinology and Genetics, National Institutes of Health, Bethesda, Maryland 20892 1932, USA
    J Clin Endocrinol Metab 96:E161-72. 2011
    ..Genetic analysis is commonly performed in patients with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency...
  36. doi request reprint Cardiovascular disease risk in adult women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
    Mimi S Kim
    Reproductive Biology and Medicine Branch, the Eunice Kennedy Shriver National Institute of Child Health and Human Development, and The National Institutes of Health Clinical Center, Bethesda, MD 20892 1932, USA
    Semin Reprod Med 27:316-21. 2009
    ..Longitudinal studies are needed, and interventions targeting obesity, insulin resistance, hypertension, and hyperandrogenism may offer improved outcome...
  37. ncbi request reprint NIH conference. Future directions in the study and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency
    Deborah P Merke
    Warren Grant Magnuson Clinical Center, Clinical Building 10, Room 13S260, 10 Center Drive MSC 1932, Bethesda, MD 20892 1932, USA
    Ann Intern Med 136:320-34. 2002
    ..Other approaches, which are in a preclinical stage of investigation, include treatment with a corticotropin-releasing hormone antagonist and gene therapy...
  38. ncbi request reprint Maternal 21-hydroxylase deficiency and uniparental isodisomy of chromosome 6 and X results in a child with 21-hydroxylase deficiency and Klinefelter syndrome
    Elizabeth A Parker
    National Institutes of Health, Developmental Endocrinology Branch, NICHD, Bethesda, Maryland, USA
    Am J Med Genet A 140:2236-40. 2006