The DOI matches its Crossref record; 136 of the 153 references it cites were found in a registry or an index.
Congenital adrenal hyperplasia.
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.”
From The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders (2011) · cites this paper as [409]
In the citing paper
“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]
In the citing paper
“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
In the citing paper
“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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“Congenital adrenal hyperplasia (CAH) Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders encompassing enzyme deficiencies in the adrenal steroidogenesis pathway that lead to impaired cortisol biosynthesis (Merke and Bornstein, 2005).”
BackgroundCross‐talk between Adrenal Medulla and Adrenal Cortex in Stress
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“Classic CAH is a defect in the CYP21A2 gene that encodes 21-hydroxylase (Merke and Bornstein, 2005).”
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“…enzyme is 21-hydroxylase, and this deficiency results in low levels of the glucocorticoid cortisol and in high levels of adrenal androgens, including testosterone, starting at about the seventh week of gestation (Merke and Bornstein, 2005; Speiser and White, 2003; White and Speiser, 2000).”
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Comprehensive Mutation Analysis of the CYP21A2 Gene
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Metadata
- Authors
- Merke, D. P., & Bornstein, S. R.
- Affiliations
- National Institutes of Health (US)
- Technische Universität Dresden (DE)
- Corresponding author
- Merke, Deborah P
- Venue
- The Lancet
- Publisher
- Elsevier BV
- Published
- 2005-06
- Volume
- 365
- Issue
- 9477
- Pages
- 2125-2136
- ISSN
- 0099-5355 (ISSN-L)
- 0140-6736
- 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
- 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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