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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Hiperplasia congénita da suprarenal de expressão tardia por deficiência de 21-hidroxilase: revisão da literatura e estudo genético preconcepção de cinco casais.
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Initial high dose hydrocortisone (HDC) treatment for 21-hydroxylase deficiency (21-OHD) does not affect linear growth during the first three years of life
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A rare occurrence of non-classic congenital adrenal hyperplasia and type 1 diabetes mellitus in a girl with Prader-Willi Syndrome: Case report and review of the literature
Aureli, A., Bocchini, S., Mariani, M., Crinò, A., Cappa, M., & Fintini, D. (2023) · Frontiers in Endocrinology · doi:10.3389/fendo.2023.1148318 · Cited by 4
Effect of complete suppression of androstenedione on auxological development in prepubertal patients with classical congenital adrenal hyperplasia
Debor, B., Pozza, S. B., Reisch, N., Schmidt, H., & Dubinski, I. (2023) · Journal of Pediatric Endocrinology and Metabolism · doi:10.1515/jpem-2023-0169 · Cited by 4
Clinical Features of Unrecognized Congenital Adrenal Hyperplasia due to 17α-hydroxylase Deficiency Since Adolescence: A Case Report
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Renal Modulation: The Renin-Angiotensin-Aldosterone System (RAAS)
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Surgical Outcomes of Clitoroplasty in Children with Congenital Adrenal Hyperplasia and Clitoral Hypertrophy: A 19-Year Experience of a Single Surgeon
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Adrenal Insufficiency
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The utility of annual growth velocity standard deviation scores and measurements of biochemical parameters in long-term treatment monitoring of children with 21-hydroxylase deficiency
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Syndromes that link the endocrine system and genitourinary tract
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Klassisches adrenogenitales Syndrom mit 21-Hydroxylase-Defekt
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Hyperplasie congénitale des surrénales: les formes précoces
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Hyperplasie congénitale des surrénales par déficit en 21-hydroxylase
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Congenital Adrenal Hyperplasia (CAH)
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Acne
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Adrenal causes of endocrine hypertension in childhood or adolescence
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Fertility in congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a review
Roszkowska, Z., Bobrowicz, M., Betlejewska, J., Hubska, J., Rak, B., & Ambroziak, U. (2025) · Frontiers in Endocrinology · doi:10.3389/fendo.2025.1682341 · Cited by 3
“If the carrier status of the partner of a CAH patient is unknown, the risk of giving birth to a child with classic CAH is approximately 1:120 and the risk of giving birth to a child with nonclassic CAH is 1:360 (77, 78).”
Hypoglycémie néonatale sévère et récidivante sans perte de sel révélatrice d’un syndrome de résistance à l’ACTH
Delmas, O., Marrec, C., Caietta, E., Simonin, G., Morel, Y., Girard, N. J., Roucher‐Boulez, F., Sarles, J., Chabrol, B., & Reynaud, R. (2014) · Archives de Pédiatrie · doi:10.1016/j.arcped.2014.09.010 · Cited by 3
Testicular tumours of adrenogenital syndrome
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Congenital Adrenal Hyperplasia Associated with Mania and Serious Violence
Nielssen, O. B., Holmes-Walker, D. J., Large, M. M. B., & Steinbeck, K. S. (2010) · Biological Psychiatry · doi:10.1016/j.biopsych.2010.09.058 · Cited by 3
Congenital adrenal hyperplasia with localized aggressive periodontitis and amelogenesis imperfecta
Ajlan, S. A. (2015) · Congenital Anomalies · doi:10.1111/cga.12122 · Cited by 3
“However, the remaining cases vary according to the affected enzymes, with hyperandrogenism symptoms appearing later in childhood or early adulthood (Merke and Bornstein 2005).”
Background
Two cases of male patients followed for a classical form of congenital adrenal hyperplasia (CAH), presenting an azoospermia: analysis and review of the literature
Fouques, C., Fatfouta, I., Hiéronimus, S., Sadoul, J., & Bongain, A. (2019) · Basic and Clinical Andrology · doi:10.1186/s12610-019-0084-8 · Cited by 3
Syndromes associated with abnormalities in the adrenal cortex
Hunt, J. L. (2009) · Diagnostic histopathology · doi:10.1016/j.mpdhp.2009.01.004 · Cited by 4
Diagnosis, treatment and preventive measures in congenital adrenal hyperplasia due to 21-hydroxylase deficiency in patients in adulthood
Молашенко, Н. В., Игоревна, С. А., & Troshina, E. A. (2016) · V F Snegirev Archives of Obstetrics and Gynecology · doi:10.18821/2313-8726-2016-3-1-26-32 · Cited by 3
Endokrinologische Erkrankungen
Luger, T. A., & Böhm, M. (2012) · Springer eBooks · doi:10.1007/978-3-642-24163-5_98 · Cited by 3

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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