Congenital adrenal hyperplasia.

Merke, Deborah P; Bornstein, Stefan R

doi:10.1016/s0140-6736(05)66736-0

Cited by 630Sexual Differentiation and DisordersAdrenal Hormones and DisordersMetabolism and Genetic Disorders

Congenital adrenal hyperplasia.

Merke, Deborah P, Bornstein, Stefan R·2005·The Lancet

DOI 10.1016/s0140-6736(05)66736-0

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Abstract

Congenital adrenal hyperplasia (CAH) due to deficiency of 21-hydroxylase is a disorder of the adrenal cortex characterised by cortisol deficiency, with or without aldosterone deficiency, and androgen excess. Patients with the most severe form also have abnormalities of the adrenal medulla and epinephrine deficiency. The severe classic form occurs in one in 15,000 births worldwide, and the mild non-classic form is a common cause of hyperandrogenism. Neonatal screening for CAH and gene-specific prenatal diagnosis are now possible. Standard hormone replacement fails to achieve normal growth and development for many children with CAH, and adults can experience iatrogenic Cushing's syndrome, hyperandrogenism, infertility, or the development of the metabolic syndrome. This Seminar reviews the epidemiology, genetics, pathophysiology, diagnosis, and management of CAH, and provides an overview of clinical challenges and future therapies.

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21-Hydroxylase deficiency, caused by mutations in P450c21, is the most common form of CAH and one of the most common inborn errors of metabolism.
“21-Hydroxylase deficiency, caused by mutations in P450c21, is the most common form of CAH and one of the most common inborn errors of metabolism.”
From The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders (2011) · cites this paper as [409]
Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders characterized by a defect in cortisol biosynthesis.
“Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders characterized by a defect in cortisol biosynthesis (1).”
From Clinical characteristics of a cohort of 244 patients with congenital adrenal hyperplasia (2012) · cites this paper as [1]
The most frequent cause of primary adrenal insufficiency is autosomal recessive congenital adrenal hyperplasia, which results from defects in enzymes involved in steroid biosynthesis.
“The most frequent cause of primary AI is autosomal recessive congenital adrenal hyperplasia (CAH), which results from defects in enzymes involved in steroid biosynthesis (Merke and Bornstein, 2005).”
From Modeling Congenital Adrenal Hyperplasia and Testing Interventions for Adrenal Insufficiency Using Donor-Specific Reprogrammed Cells (2018) · cites this paper as Merke and Bornstein, 2005
Lifelong glucocorticoid replacement therapy with hydrocortisone is standard of care for congenital adrenal hyperplasia patients.
“Lifelong glucocorticoid replacement therapy with hydrocortisone is standard of care for CAH patients and personalized replacement therapy through precision medicine is essential in optimizing care ( Merke and Bornstein, 2005 ; Hindmarsh, 2009 ; Kamoun et al., 2013 ).”
From Insights in the maturational processes influencing hydrocortisone pharmacokinetics in congenital adrenal hyperplasia patients using a middle-out approach (2023) · cites this paper as Merke and Bornstein, 2005

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Fertility in Women With Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
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High Incidence of Molecular Defects of the CYP21 Gene in Patients with Premature Adrenarche
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Long-term outcome of classical 21-hydroxylase deficiency: diagnosis, complications and quality of life
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The role of bilateral adrenalectomy in the treatment of congenital adrenal hyperplasia
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Restoration of adrenal steroidogenesis by adenovirus-mediated transfer of human cytochromeP450 21-hydroxylase into the adrenal gland of21-hydroxylase-deficient mice
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Testicular adrenal rest tissue in congenital adrenal hyperplasia: serial sonographic and clinical findings.
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Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
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Genetic and Hormonal Characterization of Cryptic 21-Hydroxylase Deficiency*
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General intelligence and cognitive profile in women with congenital adrenal hyperplasia (CAH)
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The effect of treatment of final height in classical congenital adrenal hyperplasia (CAH)
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Mortality in patients with congenital adrenal hyperplasia: a cohort study
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Stress dose of hydrocortisone is not beneficial in patients with classic congenital adrenal hyperplasia undergoing short-term, high-intensity exercise.
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Adrenomedullary function is severely impaired in 21-hydroxylase-deficient mice
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Characterization of pulsatile secretion and clearance of plasma cortisol in premature and term neonates using deconvolution analysis
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Isolated precocious pubarche: an approach
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COGNITIVE FUNCTION IN CONGENITAL ADRENAL HYPERPLASIA
Berenbaum, S. A. (2001) · Endocrinology and Metabolism Clinics of North America · doi:10.1016/s0889-8529(08)70025-2 · Cited by 71 · see citing works
Adrenomedullary function may predict phenotype and genotype in classic 21-hydroxylase deficiency
Charmandari, E., Eisenhofer, G., Mehlinger, S. L., Carlson, A., Wesley, R., Keil, M. F., Chrousos, G. P., New, M. I., & Merke, D. P. (2002) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.87.7.8664 · Cited by 70 · see citing works
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Congenital adrenal hyperplasia complicated by central precocious puberty: Linear growth during infancy and treatment with gonadotropin-releasing hormone analog
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Patients with classic congenital adrenal hyperplasia have decreased epinephrine reserve and defective glucose elevation in response to high-intensity exercise.
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Magnetic resonance imaging in the congenital adrenal hyperplasia population: increased frequency of white-matter abnormalities and temporal lobe atrophy
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Glucocorticoids stimulate transcription of the rat phenylethanolamineN-methyltransferase (PNMT) genein vivo andin vitro
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Successful treatment with ICSI of infertility caused by azoospermia associated with adrenal rests in the testes: Case report
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Normal Bone Mineral Content in Young Adults with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency
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Assignment of sex in neonates with ambiguous-genitalia
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Cognitive and neuroradiological findings in congenital adrenal hyperplasia
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Presentation, acute illness, and learning difficulties in salt wasting 21-hydroxylase deficiency
Donaldson, M. D., Thomas, P. H., Love, J. G., Murray, G. D., McNinch, A. W., & Savage, D. C. (1994) · Archives of Disease in Childhood · doi:10.1136/adc.70.3.214 · Cited by 60 · see citing works
Testicular adrenal-like tissue (TALT) in congenital adrenal hyperplasia: Detection by ultrasonography
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Delayed Diagnosis in Congenital Adrenal Hyperplasia
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The Effect of Therapy on Mature Height in Congenital Adrenal Hyperplasia*
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Ovarian adrenal-like tissue in congenital adrenal hyperplasia
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Non-classical 21-hydroxylase deficiency in infancy and childhood: the effect of time of initiation of therapy on puberty and final height
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Neonatal Screening Program for Congenital Adrenal Hyperplasia: Adjustments to the Recall Protocol
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Congenital Adrenal Hyperplasia - How to Improve the Transition from Adolescence to Adult Life
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Endocrinologic and Psychologic Evaluation of 21-Hydroxylase Deficiency Carriers and Matched Normal Subjects: Evidence for Physical and/or Psychologic Vulnerability to Stress
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Psychosexual Adjustment in Congenital Adrenal Hyperplasia
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Improved test to identify heterozygotes for congenital adrenal hyperplasia without index case examination
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Steroid 21-Hydroxylase Deficiency in Mice*
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Late-Onset 21-Hydroxylase Deficiency Is an Allelic Variant of Congenital Adrenal Hyperplasia Characterized by Attenuated Clinical Expression and Different HLA Haplotype Associations
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Adenoviral vectors can impair adrenocortical steroidogenesis: Clinical implications for natural infections and gene therapy
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Late onset adrenocortical hydroxylase deficiencies associated with menstrual dysfunction.
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Combinatorial code of growth factors and neuropeptides define neuroendocrine differentiation in PC12 cells
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Increased prevalence of heterozygous 21‐OH germline mutations in patients with adrenal incidentalomas
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Neonatal dexamethasone therapy: short- and long-term consequences
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Minimal Surgical Intervention in the Management of Intersex Conditions
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Prenatal dexamethasone treatment does not prevent alterations of the hypothalamic pituitary adrenal axis in steroid 21-hydroxylase deficient mice.
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Nonclassical Congenital Adrenal Hyperplasia and the Polycystic Ovarian Syndromea
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Intelligence of patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency, their parents and unaffected siblings.
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Hypoglycaemia during illness in children with congenital adrenal hyperplasia
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REVERSIBLE INFERTILITY, PHARMACEUTICAL AND SPONTANEOUS, IN A MALE WITH LATE ONSET CONGENITAL ADRENAL HYPERPLASIA, DUE TO 21-HYDROXYLASE DEFICIENCY
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Congenital adrenal hyperplasia: transitional care
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Clinical and metabolic findings in adolescent females with hyperandrogenism
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Loss of Therapeutic Control in Congenital Adrenal Hyperplasia due to Interaction between Dexamethasone and Primidone
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Flutamide Decreases Cortisol Clearance in Patients with Congenital Adrenal Hyperplasia
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The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders
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Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society Clinical Practice Guideline.
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Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management
Claahsen - van der Grinten, H. L., Speiser, P. W., Ahmed, S. F., Arlt, W., Auchus, R. J., Falhammar, H., Flück, C. E., Guasti, L., Huebner, A., Kortmann, B. B. M., et al. (2022) · Endocrine Reviews · doi:10.1210/endrev/bnab016 · Cited by 556 · see citing works
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Health status of adults with congenital adrenal hyperplasia: a cohort study of 203 patients
Arlt, W., Willis, D. S., Wild, S. H., Krone, N., Doherty, E. J., Hahner, S., Han, T. S., Carroll, P. V., Conway, G. S., Rees, D. A., et al. (2010) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2010-0917 · Cited by 506 · see citing works
Gender identity development in adolescence
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Predisposing Factors for Adrenal Insufficiency
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Clinical characteristics of a cohort of 244 patients with congenital adrenal hyperplasia
Finkielstain, G. P., Kim, M. S., Sinaii, N., Nishitani, M., Van Ryzin, C., Hill, S. C., Reynolds, J. C., Hanna, R. M., & Merke, D. P. (2012) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2012-2102 · Cited by 313 · see citing works
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Genetics of congenital adrenal hyperplasia
Krone, N., & Arlt, W. (2009) · Best Practice & Research Clinical Endocrinology & Metabolism · doi:10.1016/j.beem.2008.10.014 · Cited by 312 · see citing works
Approaching the shared biology of obesity and depression: the stress axis as the locus of gene–environment interactions
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Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management
Carrillo, N., Chandler, R. J., & Venditti, C. P. (2011) · Journal of Inherited Metabolic Disease · doi:10.1007/s10545-011-9364-y · Cited by 233 · see citing works
The clinical use of corticosteroids in pregnancy
Kemp, M. W., Newnham, J. P., Challis, J. R. G., Jobe, A., & Stock, S. (2015) · Human Reproduction Update · doi:10.1093/humupd/dmv047 · Cited by 217 · see citing works
Increased cardiovascular and metabolic morbidity in patients with 21-hydroxylase deficiency: a Swedish population-based national cohort study
Falhammar, H., Frisén, L., Hirschberg, A. L., Norrby, C., Almqvist, C., Nordenskjöld, A., & Nordenström, A. (2015) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2015-2093 · Cited by 204 · see citing works
Increased mortality in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Falhammar, H., Frisén, L., Norrby, C., Hirschberg, A. L., Almqvist, C., Nordenskjöld, A., & Nordenström, A. (2014) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2014-2957 · Cited by 196 · see citing works
Comprehensive genetic analysis of 182 unrelated families with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Finkielstain, G. P., Chen, W., Mehta, S. P., Fujimura, F. K., Hanna, R. M., Van Ryzin, C., McDonnell, N. B., & Merke, D. P. (2011) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2010-0319 · Cited by 192 · see citing works
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Research Review: Gender identity in youth: treatment paradigms and controversies
Turban, J. L., & Ehrensaft, D. (2017) · Journal of Child Psychology and Psychiatry · doi:10.1111/jcpp.12833 · Cited by 170 · see citing works
Metabolic profile and body composition in adult women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Falhammar, H., Filipsson, H., Holmdahl, G., Janson, P.-O., Nordenskjöld, A., Hagenfeldt, K., & Thorén, M. (2007) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2006-1350 · Cited by 167 · see citing works
Recent Advances in Acne Pathogenesis: Implications for Therapy
Das, S., & Reynolds, R. V. (2014) · American Journal of Clinical Dermatology · doi:10.1007/s40257-014-0099-z · Cited by 157 · see citing works
Fractures and bone mineral density in adult women with 21-hydroxylase deficiency
Falhammar, H., Filipsson, H., Holmdahl, G., Janson, P.-O., Nordenskjöld, A., Hagenfeldt, K., & Thorén, M. (2007) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2007-0744 · Cited by 151 · see citing works
Physiological basis for the etiology, diagnosis, and treatment of adrenal disorders: Cushing’s syndrome, adrenal insufficiency, and congenital adrenal hyperplasia
Raff, H., Sharma, S. T., & Nieman, L. K. (2014) · Comprehensive Physiology · doi:10.1002/cphy.c130035 · Cited by 141 · see citing works
Adrenal insufficiency: etiology, diagnosis and treatment
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Prenatal androgen exposure alters girls’ responses to information indicating gender-appropriate behaviour
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Frequency and causes of adrenal crises over lifetime in patients with 21-hydroxylase deficiency
Reisch, N., Willige, M., Kohn, D., Schwarz, H.-P., Allolio, B., Reincke, M., Quinkler, M., Hahner, S., & Beuschlein, F. (2012) · European Journal of Endocrinology · doi:10.1530/eje-12-0161 · Cited by 136 · see citing works
Clinical perspectives in congenital adrenal hyperplasia due to 11β-hydroxylase deficiency
Bulsari, K., & Falhammar, H. (2016) · Endocrine · doi:10.1007/s12020-016-1189-x · Cited by 139 · see citing works
Precocious Pubarche: Distinguishing Late-Onset Congenital Adrenal Hyperplasia from Premature Adrenarche
Armengaud, J.-B., Charkaluk, M.-L., Trivin, C., Tardy, V., Bréart, G., Brauner, R., & Chalumeau, M. (2009) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2009-0314 · Cited by 135 · see citing works
Congenital adrenal hyperplasia and P450 oxidoreductase deficiency
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Authors: Merke, D. P., & Bornstein, S. R.
Affiliations: National Institutes of Health (US)
Technische Universität Dresden (DE)
Corresponding author: Merke, Deborah P
ORCID: Merke, Deborah P
Bornstein, Stefan R
Venue: The Lancet
Publisher: Elsevier BV
Published: 2005-06
Volume: 365
Issue: 9477
Pages: 2125-2136
ISSN: 0099-5355 (ISSN-L)
0140-6736
DOI: 10.1016/s0140-6736(05)66736-0
OpenAlex: W2913693499
Cited by: 628
References: 153
Citations by year: 2026: 14 · 2025: 22 · 2024: 22 · 2023: 28 · 2022: 33 · 2021: 34 · 2020: 27 · 2019: 21 · 2018: 29 · 2017: 37 · 2016: 42 · 2015: 36 · 2014: 38 · 2013: 33 · 2012: 43
FWCI: 1.84
Type: journal article
Language: en
Open access: closed
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
Locations: The Lancet (publishedVersion)
PubMed (publishedVersion)
Site cant be reached (submittedVersion)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Adrenal Hormones and Disorders
Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
Keywords: congenital adrenal hyperplasia, 21-hydroxylase deficiency, cortisol deficiency, aldosterone deficiency, hyperandrogenism, newborn screening, prenatal diagnosis, hormone replacement therapy, iatrogenic Cushing's syndrome, infertility, metabolic syndrome, pathophysiology, diagnosis
MeSH terms: Adrenal Hyperplasia, Congenital, Humans

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Congenital adrenal hyperplasia.

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