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

The DOI matches its Crossref record; 136 of the 153 references it cites were found in a registry or an index.

Congenital adrenal hyperplasia.

Merke, Deborah P, Bornstein, Stefan R·2005·The Lancet
DOI 10.1016/s0140-6736(05)66736-0
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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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Crossref · 10.1016/s0140-6736(05)66736-0

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Citations

Cites

Research works printed but not linked: 17

  1. Speiser, 1985, High frequency of nonclassical steroid 21-hydroxylase deficiency, Am J Hum Genet, 37, 650
  2. 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
  3. Kawaguchi, 1992, Evolutionary origin of mutations in the primate cytochrome P450c21 gene, Am J Hum Genet, 50, 766
  4. 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
  5. Wilson, 1995, Steroid 21 hydroxylase deficiency: genotype may not predict phenotype, J Clin Endocrinol Metab, 80, 2322
  6. 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
  7. Knochenhauer, 1997, Carriers of 21-hydroxylase deficiency are not at increased risk for hyperandrogenism, J Clin Endocrinol Metab, 82, 479
  8. Speiser, 1992, Insulin insensitivity in adrenal hyperplasia due to nonclassical steroid 21-hydroxylase deficiency, J Clin Endocrinol Metab, 75, 1421
  9. 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
  10. Azziz, 1994, Clinical review 56: nonclassic adrenal hyperplasia: current concepts, J Clin Endocrinol Metab, 78, 810
  11. New, 1988, Growth and final height in classical and nonclassical 21-hydroxylase deficiency, Acta Paediatr Jpn, 30, 79
  12. David, 1994, Final height in 69 patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency, Arch Pediatr, 1, 363
  13. Jaaskelainen, 2000, Child rate, pregnancy outcome and ovarian function in females with classical 21-hydroxylase deficiency, Acta Obstet Gynecol Scand, 79, 687
  14. Feldman, 1992, Fertility in women with late-onset adrenal hyperplasia due to 21-hydroxylase deficiency, J Clin Endocrinol Metab, 74, 635
  15. Lo, 1999, Normal female infants born of mothers with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, J Clin Endocrinol Metab, 84, 930
  16. Margolis, 1974, Experimental adenovirus infection of the mouse adrenal gland. I. Light microscopic observations, Am J Pathol, 75, 363
  17. Stauber, 1978, Experimental intraamnionic exposure of bovine fetuses with subgroup 2, type 7 adenovirus, Can J Comp Med, 42, 466

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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
ORCID
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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