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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In the citing paper
“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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Items 601–628 of 628
Oyenusi, E. E., Babatunde, F., AKOWUNDU, P. K., Nwigbo, U. F., & Oduwole, A. (2022) · African Journal of Endocrinology and Metabolism · doi:10.4103/ajem.ajem_14_22
Ormoni steroidei surrenalici: androstenedione
D’Agostini, M., del GdS-EMM, A. N., & INCALZA, M. A. (2024) · La Rivista Italiana della Medicina di Laboratorio - Italian Journal of Laboratory Medicine · doi:10.23736/s1825-859x.24.00258-5
Interpretation of Neonatal Adrenal Function Results and Adrenal Function Results in Critical Illness
Akyürek, N., Eklioğlu, B. S., & Binay, Ç. (2024) · Journal of Clinical Research in Pediatric Endocrinology · doi:10.4274/jcrpe.galenos.2024.2024-6-1-s
Aggressive Behavior and Characteristics in Congenital Adrenal Hyperplasia
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Aswani, A., Butt, E., Akinooye, O., Chokapirat, C., & Osaretin, O. (2025) · Cureus · doi:10.7759/cureus.89331
“Congenital adrenal hyperplasia, most commonly caused by 21-hydroxylase deficiency, results in cortisol deficiency and androgen excess [2,8].”
Aggressive Behavior and Characteristics in Congenital Adrenal Hyperplasia
Çetin, S. K., & Aycan, Z. (2025) · Springer eBooks · doi:10.1007/978-3-031-73363-5_146
Função reprodutiva em portadoras de hiperplasia adrenal congênita: revisão narrativa da literatura
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Genetics of Metabolic Diseases
Amoli, M. M., Taheri, F., Goharifar, A., Safari, M., & Salmaninejad, A. (2025) · Springer eBooks · doi:10.1007/978-981-95-2286-6_2
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Galindo, C. D., Gonzalez, C., Avendaño, D. O., & Pabon, L. C. B. (2025) · Cureus · doi:10.7759/cureus.97582
Corticosteroids in Pediatric Endocrinology
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“Classic CAH can be subclassi fi ed into salt-wasting (SW) or simple virilizing subtypes based on the extent of aldosterone de fi ciency (2, 3).”
Atılgan, A. E., Kılıç, F., Acar, A., Akçaoğlu, T., & Uzun, A. (2021) · DergiPark (Istanbul University)
FERREIRA, B., Robin, G., Pigny, P., Bachelot, A., RIBIERE, L., & Catteau-Jonard, S. (2026) · Gynecological Endocrinology · doi:10.1080/09513590.2026.2659979
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Congenital adrenal hyperplasia
Vorontsova, M. V., Кокорина, Т. С., Nuralieva, N. F., Yukina, M. Y., Troshina, E., Mel'nichenko, G. A., & Mokrysheva, N. G. (2026) · Problems of Endocrinology · doi:10.14341/probl13763
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Navardauskaitė, R., Niklasson, A., Nierop, A. F. M., Pivodic, A., Verkauskienė, R., & Holmgren, A. (2026) · Frontiers in Endocrinology · doi:10.3389/fendo.2026.1736405
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“Congenital adrenal hyperplasia is not merely a disease affecting the endocrine system; it can lead to multisystemic consequences due to chronic hormonal imbalance, long-term glucocorticoid therapy and metabolic effects [3].”
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“For study purposes, predefined hormonal targets were a period median 17-OHP level ≤ 12 ng/mL and a period median androstene-dione level within the age-and sex-specific reference range [13,15,16].”
Dörr, H. W., & Riepe, F. G. (2015) · Elsevier eBooks · doi:10.1016/b978-3-437-22061-6.50393-1
Définition et classification des maladies héréditaires du métabolisme
Thervet, É. (2013) · Références en médecine d'urgence · doi:10.1007/978-2-8178-0350-0_3
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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