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Genomes and GenesSpecies | D MerkeSummaryAffiliation: National Institutes of Health Country: USA Publications
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Publications
Tenascin-x haploinsufficiency associated with ehlers-danlos syndrome in patients with congenital adrenal hyperplasiaDeborah P Merke
MD, MS, National Institutes of Health Clinical Center, Building 10, CRC, Room 1 2740, 10 Center Drive, MSC 1932, Bethesda, Maryland 20892 1932
J Clin Endocrinol Metab 98:E379-87. 2013..A subset of parents had clinical findings. Conclusions: Clinical evaluation for connective tissue dysplasia should be routinely performed in CAH patients, especially those harboring a CYP21A2 deletion...- Clinical characteristics of a cohort of 244 patients with congenital adrenal hyperplasiaGabriela 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... 
Congenital adrenal hyperplasiaDeborah 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...
Adrenomedullary function in patients with nonclassic congenital adrenal hyperplasiaS 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...- The adrenal life cycle: the fetal and adult cortex and the remaining questionsDeborah 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 - Children experience cognitive decline despite reversal of brain atrophy one year after resolution of Cushing syndromeDeborah 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... - New ideas for medical treatment of congenital adrenal hyperplasiaD 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... - Congenital adrenal hyperplasia: epidemiology, management and practical drug treatmentD 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... - Pubertal and gender-related changes in the sympathoadrenal system in healthy childrenMartina 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... - Body image in adolescents with disorders of steroidogenesisCong 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)... - Patients with classic congenital adrenal hyperplasia have decreased epinephrine reserve and defective glycemic control during prolonged moderate-intensity exerciseLiza 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... - Amygdala function in adolescents with congenital adrenal hyperplasia: a model for the study of early steroid abnormalitiesMonique 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... - Approach to the adult with congenital adrenal hyperplasia due to 21-hydroxylase deficiencyDeborah 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... - Early hyperandrogenism affects the development of hippocampal function: preliminary evidence from a functional magnetic resonance imaging study of boys with familial male precocious pubertySven 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... - Aplasia cutis congenita following in utero methimazole exposureSmita 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 - Steroid abnormalities and the developing brain: declarative memory for emotionally arousing and neutral material in children with congenital adrenal hyperplasiaFrancoise 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... - Adrenocorticotropin hypersecretion and pituitary microadenoma following bilateral adrenalectomy in a patient with classic 21-hydroxylase deficiencyEvangelia 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... - Utility of plasma free metanephrines for detecting childhood pheochromocytomaMartina 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... - Children with classic congenital adrenal hyperplasia have elevated serum leptin concentrations and insulin resistance: potential clinical implicationsEvangelia 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.... - Psychiatric characterization of children with genetic causes of hyperandrogenismSven 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... - In boys with abnormal developmental tempo, maturation of the skeleton and the hypothalamic-pituitary-gonadal axis remains synchronousArmando 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... - Hypoglycemia during acute illness in children with classic congenital adrenal hyperplasiaMargaret 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... - Quality of life in children and adolescents 1-year after cure of Cushing syndrome: a prospective studyMargaret 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... - Patients with classic congenital adrenal hyperplasia have decreased epinephrine reserve and defective glucose elevation in response to high-intensity exerciseMartina 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... - Adrenomedullary function may predict phenotype and genotype in classic 21-hydroxylase deficiencyEvangelia 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... - Stress dose of hydrocortisone is not beneficial in patients with classic congenital adrenal hyperplasia undergoing short-term, high-intensity exerciseMartina Weise
Developmental Endocrinology Branch, National Institutes of Health, Bethesda, Maryland 20892, USA
J Clin Endocrinol Metab 89:3679-84. 2004.... - Altered amygdala and hippocampus function in adolescents with hypercortisolemia: a functional magnetic resonance imaging study of Cushing syndromeFrancoise S Maheu
National Institute of Mental Health, Bethesda, MD, 20892 2670, USA
Dev Psychopathol 20:1177-89. 2008.... - Children with classic congenital adrenal hyperplasia have decreased amygdala volume: potential prenatal and postnatal hormonal effectsDeborah 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.... - Use of aromatase inhibitors in precocious pubertyP 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... - A pharmacokinetic and pharmacodynamic study of delayed- and extended-release hydrocortisone (Chronocort) vs. conventional hydrocortisone (Cortef) in the treatment of congenital adrenal hyperplasiaSomya 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... - Effects of hormones and sex chromosomes on stress-influenced regions of the developing pediatric brainA 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... - Endocrinologic and psychologic evaluation of 21-hydroxylase deficiency carriers and matched normal subjects: evidence for physical and/or psychologic vulnerability to stressEvangelia 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... - Flutamide decreases cortisol clearance in patients with congenital adrenal hyperplasiaEvangelia 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... - Comprehensive genetic analysis of 182 unrelated families with congenital adrenal hyperplasia due to 21-hydroxylase deficiencyGabriela 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... - Cardiovascular disease risk in adult women with congenital adrenal hyperplasia due to 21-hydroxylase deficiencyMimi 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... - NIH conference. Future directions in the study and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiencyDeborah 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... - Maternal 21-hydroxylase deficiency and uniparental isodisomy of chromosome 6 and X results in a child with 21-hydroxylase deficiency and Klinefelter syndromeElizabeth A Parker
National Institutes of Health, Developmental Endocrinology Branch, NICHD, Bethesda, Maryland, USA
Am J Med Genet A 140:2236-40. 2006