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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Francis, G. L. (2022) · Clinical Thyroidology · doi:10.1089/ct.2022;34.282-285
Adrenal Glands - The Current Stage and New Perspectives of Diseases and Treatment
Păun, D. L., Cianci, P., & Restini, E. (2022) · IntechOpen eBooks · doi:10.5772/intechopen.102209 · Cited by 1
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Acute Gastroenteritis Induced Adrenal Crisis in a patient with Congenital Adrenal Hyperplasia: A Case Report
Chapagain, N., Adhikari, A., Adhikari, N., Paudel, S., & Mandal, D. (2023) · Journal of Nepal Medical Association · doi:10.31729/jnma.7926
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Deakandi, W. Y., Ni’mah, N. L., Rusdiana, A., Nuzula, T. M., & Mutaqin, F. (2023) · International Journal Of Scientific Advances · doi:10.51542/ijscia.v4i1.20
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Åkerman, A., Sævik, Å. B., Thorsby, P. M., Methlie, P., Quinkler, M. O., Jørgensen, A. P., Höybye, C., Dębowska, A., Nedrebø, B. G., Dahle, A. L., et al. (2023) · Journal of Clinical Medicine · doi:10.3390/jcm12103602
“In congenital adrenal hyperplasia (CAH), low levels of epinephrine are reported from birth through adulthood [13,14], and patients also show significantly lower epinephrine response during moderate–intense physical activity [15].”
Background
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Caracterización molecular de la nueva entidad clínica relacionada con la hiperplasia suprarrenal congénita, síndrome CAH-X en población española
Figueras, L. M., Muñoz‐Pacheco, R., González, D. G., Arriba, M., & Zubicaray, B. E. (2023) · Advances in Laboratory Medicine / Avances en Medicina de Laboratorio · doi:10.1515/almed-2023-0050 · Cited by 1
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de Oliveira, N. M. (2022) · doi:10.47749/t/unicamp.2022.1258320
Adrenal Gland Therapies
Quarde, A. (2023) · Wiley eBooks · doi:10.1002/9781119863564.ch3
EVALUATION OF FINAL HEIGHT IN PATIENTS WITH CONGENITAL ADRENAL HYPERPLASIA
Kurtipek, F. B., Keskın, M., Bayramoğlu, E., & Aycan, Z. (2024) · Pamukkale Medical Journal · doi:10.31362/patd.1366476
Innovative Pharmacometric Approaches to Inform Drug Development and Clinical Use
(2024) · Frontiers research topics · doi:10.3389/978-2-8325-4503-4
Adrenomedullin level in children with congenital adrenal hyperplasia: Relationship to vascular and left ventricular functionsPreprint
Farghaly, H. S., Eltayeb, A. A., Kalil, K. A. M., Mohammad, S. K., Kandiel, R. A., Saied, G. M., & Mohammed1, A. A. (2024) · Research Square · doi:10.21203/rs.3.rs-4193617/v1

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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