Cited by 628Sexual Differentiation and DisordersAdrenal Hormones and DisordersMetabolism and Genetic Disorders

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Congenital adrenal hyperplasia.

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

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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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Stress hormones: their interaction and regulation
Axelrod, J., & Reisine, T. D. (1984) · Science · doi:10.1126/science.6143403 · Cited by 1,527
Androgen Excess in Women: Experience with Over 1000 Consecutive Patients
Azziz, R., Sanchez, L. A., Knochenhauer, E. S., Moran, C., Lazenby, J., Stephens, K. C., Taylor, K., & Boots, L. R. (2004) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2003-031122 · Cited by 1,132
A Consensus Statement on Health Care Transitions for Young Adults With Special Health Care Needs
American Academy of Pediatrics, American Academy of Family Physicians, & American College of Physicians-American Society of Internal Medicine (2002) · PEDIATRICS · doi:10.1542/peds.110.s3.1304 · Cited by 894
Dehydroepiandrosterone Replacement in Women with Adrenal Insufficiency
Arlt, W., Callies, F., van Vlijmen, J. C., Koehler, I., Reincke, M., Bidlingmaier, M., Huebler, D., Oettel, M., Ernst, M., Schulte, H. M., et al. (1999) · New England Journal of Medicine · doi:10.1056/nejm199909303411401 · Cited by 644
Genotyping steroid 21-hydroxylase deficiency: hormonal reference data
NEW, M. I., LORENZEN, F., LERNER, A. J., KOHN, B., OBERFIELD, S. E., POLLACK, M. S., DUPONT, B., STONER, E., LEVY, D. J., PANG, S., et al. (1983) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem-57-2-320 · Cited by 624
Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Speiser, P. W., Dupont, J., Zhu, D., Serrat, J., Buegeleisen, M., Tusie-Luna, M. T., Lesser, M., New, M. I., & White, P. C. (1992) · Journal of Clinical Investigation · doi:10.1172/jci115897 · Cited by 572
Consensus Statement on 21-Hydroxylase Deficiency from The European Society for Paediatric Endocrinology and The Lawson Wilkins Pediatric Endocrine Society
Vogeser, M., Zachoval, R., Felbinger, T. W., Jacob, K., Radetti, G., Bona, G., Corrias, A., Cappa, M., DeSanctis, V., Lauriola, S., et al. (2002) · Hormone Research in Paediatrics · doi:10.1159/000065490 · Cited by 452
Androgen and psychosexual development: Core gender identity, sexual orientation, and recalled childhood gender role behavior in women and men with congenital adrenal hyperplasia (CAH)
Hines, M., Brook, C. G. D., & Conway, G. S. (2004) · The Journal of Sex Research · doi:10.1080/00224490409552215 · Cited by 445
Non-compliance and transfer from paediatric to adult transplant unit
Watson, A. R. (2000) · Pediatric Nephrology · doi:10.1007/s004670050794 · Cited by 428
Environmental influences in the development of neural crest derivatives: glucocorticoids, growth factors, and chromaffin cell plasticity
Doupe, A. J., Landis, S. C., & Patterson, P. (1985) · Journal of Neuroscience · doi:10.1523/jneurosci.05-08-02119.1985 · Cited by 399

Show all 153 references

Research works printed but not linked: 17

Speiser, 1985, High frequency of nonclassical steroid 21-hydroxylase deficiency, Am J Hum Genet, 37, 650
Fitness, 1999, Genotyping of CYP21, linked chromosome 6p markers, and a sex-specific gene in neonatal screening for congenital adrenal hyperplasia, J Clin Endocrinol Metab, 84, 960
Kawaguchi, 1992, Evolutionary origin of mutations in the primate cytochrome P450c21 gene, Am J Hum Genet, 50, 766
Tajima, 1993, De novo mutation causes steroid 21-hydroxylase deficiency in one family of HLA-identical affected and unaffected siblings, J Clin Endocrinol Metab, 77, 86
Wilson, 1995, Steroid 21 hydroxylase deficiency: genotype may not predict phenotype, J Clin Endocrinol Metab, 80, 2322
Jaaskelainen, 1997, Population-wide evaluation of disease manifestation in relation to molecular genotype in steroid 21-hydroxylase (CYP21) deficiency: good correlation in a well defined population, J Clin Endocrinol Metab, 82, 3293
Knochenhauer, 1997, Carriers of 21-hydroxylase deficiency are not at increased risk for hyperandrogenism, J Clin Endocrinol Metab, 82, 479
Speiser, 1992, Insulin insensitivity in adrenal hyperplasia due to nonclassical steroid 21-hydroxylase deficiency, J Clin Endocrinol Metab, 75, 1421
Nordenstrom, 1999, Genotyping is a valuable diagnostic complement to neonatal screening for congenital adrenal hyperplasia due to steroid 21 hydroxylase deficiency, J Clin Endocrinol Metab, 84, 1505
Azziz, 1994, Clinical review 56: nonclassic adrenal hyperplasia: current concepts, J Clin Endocrinol Metab, 78, 810
New, 1988, Growth and final height in classical and nonclassical 21-hydroxylase deficiency, Acta Paediatr Jpn, 30, 79
David, 1994, Final height in 69 patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency, Arch Pediatr, 1, 363
Jaaskelainen, 2000, Child rate, pregnancy outcome and ovarian function in females with classical 21-hydroxylase deficiency, Acta Obstet Gynecol Scand, 79, 687
Feldman, 1992, Fertility in women with late-onset adrenal hyperplasia due to 21-hydroxylase deficiency, J Clin Endocrinol Metab, 74, 635
Lo, 1999, Normal female infants born of mothers with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, J Clin Endocrinol Metab, 84, 930
Margolis, 1974, Experimental adenovirus infection of the mouse adrenal gland. I. Light microscopic observations, Am J Pathol, 75, 363
Stauber, 1978, Experimental intraamnionic exposure of bovine fetuses with subgroup 2, type 7 adenovirus, Can J Comp Med, 42, 466

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Bornstein, S. R., Steenblock, C., Chrousos, G. P., Schally, A. V., Beuschlein, F., Kline, G. A., Krone, N. P., Licinio, J., Wong, M., Ullmann, E., et al. (2018) · Molecular Psychiatry · doi:10.1038/s41380-018-0244-9 · Cited by 29
Self-citation
Molecular mechanisms associated with 46,XX disorders of sex development
Knarston, I. M., Ayers, K. L., & Sinclair, A. H. (2016) · Clinical Science · doi:10.1042/cs20150579 · Cited by 29
Recent advances in biochemical and molecular analysis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency
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An update to 21-hydroxylase deficient congenital adrenal hyperplasia
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Clinical guidelines for the diagnosis and treatment of 21-hydroxylase deficiency (2021 revision)
Ishii, T., Kashimada, K., Amano, N., Takasawa, K., Nakamura‐Utsunomiya, A., Yatsuga, S., Mukai, T., Ida, S., Isobe, M., Fukushi, M., et al. (2022) · Clinical Pediatric Endocrinology · doi:10.1297/cpe.2022-0009 · Cited by 35
Motor development in individuals with congenital adrenal hyperplasia: Strength, targeting, and fine motor skill
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“In the most common form of CAH, a deficiency of the enzyme 21-hydroxylase leads to deficient production of cortisol and often of mineralocorticoids (Merke & Bornstein, 2005).”
Background
The Adrenal Cortex and Its Disorders
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Lesions of the adrenal cortex
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Differential Effects of Prenatal Testosterone Timing and Duration on Phenotypic and Behavioral Masculinization and Defeminization of Female Sheep1
Roberts, E. K., Padmanabhan, V., & Lee, T. M. (2008) · Biology of Reproduction · doi:10.1095/biolreprod.107.067074 · Cited by 28
Emotional Memory in Early Steroid Abnormalities: An fMRI Study of Adolescents With Congenital Adrenal Hyperplasia
Mazzone, L., Mueller, S. C., Maheu, F. S., VanRyzin, C., Merke, D. P., & Ernst, M. (2011) · Developmental Neuropsychology · doi:10.1080/87565641.2010.549866 · Cited by 28
“Patients with CAH show hypersecretion of CRH and ACTH, due to lack of glucocorticoid feedback on the hypothalamus-pituitary-adrenal (HPA) axis (Merke & Bornstein, 2005).”
BackgroundSelf-citation
Steroid abnormalities and the developing brain: Declarative memory for emotionally arousing and neutral material in children with congenital adrenal hyperplasia
Maheu, F. S., Merke, D. P., Schroth, E. A., Keil, M. F., Hardin, J., Poeth, K., Pine, D. S., & Ernst, M. (2008) · Psychoneuroendocrinology · doi:10.1016/j.psyneuen.2007.11.006 · Cited by 28
“Such overproduction of ACTH stimulates the adrenals and leads to excess adrenal androgen production (Merke and Bornstein, 2005).”
BackgroundMethodSelf-citation
Obesity and Familial Predisposition Are Significant Determining Factors of an Adverse Metabolic Profile in Young Patients with Congenital Adrenal Hyperplasia
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Congenital Adrenal Hyperplasias Presenting in the Newborn and Young Infant
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“The incidence of classic forms (SW and SV) ranges between 1 in 13,000 and 1 in 15,000 live births (42): in most populations, the frequency of heterozygous carriers is 1 in 60.”
Background
Ten-year evaluation of a Neonatal Screening Program for Congenital Adrenal Hyperplasia
Nascimento, M. L., Cristiano, A. N. B., de Campos, T., Ohira, M., Cechinel, E., Simoni, G., Lee, J. V. D. S., Linhares, R. M. M., & da Silva, P. C. A. (2014) · Arquivos Brasileiros de Endocrinologia & Metabologia · doi:10.1590/0004-2730000003310 · Cited by 26
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Linking prenatal androgens to gender-related attitudes, identity, and activities: evidence from girls with congenital adrenal hyperplasia
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The role of 21-hydroxylase in the pathogenesis of adrenal masses: review of the literature and focus on our own experience
Barzon, L., Maffei, P., Sonino, N., Pilon, C., Baldazzi, L., Balsamo, A., Del Maschio, O., Masi, G., Trevisan, M., Pacenti, M., et al. (2007) · Journal of Endocrinological Investigation · doi:10.1007/bf03346358 · Cited by 24
Long-term cardio-metabolic outcomes in patients with classical congenital adrenal hyperplasia: is the risk real?
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Congenital Adrenal Hyperplasia Associated with Mutation in an 11β-Hydroxylase-Like Gene in a Cat
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Thirty-Year Lessons from the Newborn Screening for Congenital Adrenal Hyperplasia (CAH) in Japan
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Adrenal steroid profiling as a diagnostic tool to differentiate polycystic ovary syndrome from nonclassic congenital adrenal hyperplasia: pinpointing easy screening possibilities and normal cutoff levels using liquid chromatography tandem mass spectrometry
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A Diagnostic Approach to Adrenal Cortical Lesions
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Substitution therapy in adult patients with congenital adrenal hyperplasia
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Confirmation of congenital adrenal hyperplasia by adrenal steroid profiling of filter paper dried blood samples using ultra-performance liquid chromatography-tandem mass spectrometry
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Congenital adrenal hyperplasia
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Endocrine profile and phenotype-genotype correlation in unrelated patients with non-classical congenital adrenal hyperplasia
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Neonatal mass screening for 21-hydroxylase deficiency
Tajima, T., & Fukushi, M. (2016) · Clinical Pediatric Endocrinology · doi:10.1297/cpe.25.1 · Cited by 22
Testicular adrenal rest tumor screening and fertility counseling among males with congenital adrenal hyperplasia
Chaudhari, M., Johnson, E. K., Dajusta, D. G., & Nahata, L. (2017) · Journal of Pediatric Urology · doi:10.1016/j.jpurol.2017.11.011 · Cited by 22
Update: Newborn Screening for Endocrinopathies
Pass, K. A., & Neto, E. C. (2009) · Endocrinology and Metabolism Clinics of North America · doi:10.1016/j.ecl.2009.08.005 · Cited by 22
Adrenal Insufficiency in Children With Nephrotic Syndrome on Corticosteroid Treatment
Bakar, K. A., Khalil, K., Lim, Y. N., Yap, Y. C., Appadurai, M., Sidhu, S., Lai, C. S., Zaini, A. A., Samingan, N. B., & Jalaludin, M. Y. (2020) · Frontiers in Pediatrics · doi:10.3389/fped.2020.00164 · Cited by 21
Russian clinical practice guidelines «congenital adrenal hyperplasia»
Mokrysheva, N. G., Mel'nichenko, G. A., Adamyan, L. V., Troshina, E. A., Молашенко, Н. В., Игоревна, С. А., Uvarova, E. V., Esayan, E. R. M., Andreeva, E. N., Ужегова, Ж. А., et al. (2021) · Obesity and metabolism · doi:10.14341/omet12787 · Cited by 28
Prenatal androgen exposure and sex-typical play behaviour: A meta-analysis of classic congenital adrenal hyperplasia studies
Kung, K. T. F., Louie, K., Spencer, D., & Hines, M. (2024) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2024.105616 · Cited by 23
Voice problems due to virilization in adult women with congenital adrenal hyperplasia due to 21‐hydroxylase deficiency
Nygren, U., Nyström, H. F., Falhammar, H., Hagenfeldt, K., Nordenskjöld, A., & Södersten, M. (2013) · Clinical Endocrinology · doi:10.1111/cen.12226 · Cited by 21
Sex differences and effects of prenatal exposure to excess testosterone on ventral tegmental area dopamine neurons in adult sheep
Brown, E. C. Z., Steadman, C. J., Lee, T. M., Padmanabhan, V., Lehman, M. N., & Coolen, L. M. (2015) · European Journal of Neuroscience · doi:10.1111/ejn.12871 · Cited by 21
“…been documented in several species including rat (Wolf et al., 2002; Wu et al., 2010), rhesus macaque (Goy et al., 1988; Abbott et al., 2005), human (Merke & Bornstein, 2005) and sheep (Wood & Foster, 1998; Robinson et al., 2002; Padmanabhan et al., 2006; Bormann et al., 2011; Hogg et al., 2011).”
Background
Bone Health Should Be an Important Concern in the Care of Patients Affected by 21 Hydroxylase Deficiency
Bachelot, A., Chakhtoura, Z., Samara‐Boustani, D., Dulon, J., Touraine, P. A., & Polak, M. (2010) · International Journal of Pediatric Endocrinology · doi:10.1155/2010/326275 · Cited by 23

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: Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › 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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