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Cited by 147Sexual Differentiation and DisordersAdrenal Hormones and DisordersOvarian function and disorders

The DOI matches its Crossref record; 90 of the 90 references it cites were found in a registry or an index.

Future Directions in the Study and Management of Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

Merke, Deborah P., Bornstein, Stefan R., Avila, Nilo A., Chrousos, George P.·2002·Annals of Internal Medicine
DOI 10.7326/0003-4819-136-4-200202190-00012
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Abstract

Congenital adrenal hyperplasia describes a group of inherited autosomal recessive disorders characterized by an enzymatic defect in cortisol biosynthesis, compensatory increases in corticotropin secretion, and adrenocortical hyperplasia. 21-Hydroxylase deficiency is responsible for more than 95% of cases and is one of the most common known autosomal recessive disorders. The classic or severe type presents in the newborn period or early childhood with virilization and adrenal insufficiency, with or without salt loss; the mild or nonclassic form presents in late childhood or early adulthood with mild hyperandrogenism and is an important cause of masculinization and infertility in women. This wide range of phenotypic expression is mostly explained by genetic variation, although genotype-phenotype discrepancies have been described. Reproductive, metabolic, and other comorbid conditions, including risk for tumors, are currently under investigation in both forms of the disease. A high proportion of patients with adrenal incidentalomas may be homozygous or heterozygous for 21-hydroxylase deficiency. Women with congenital adrenal hyperplasia often develop the polycystic ovary syndrome. Ectopic adrenal rest tissue is often found in the testes of men with congenital adrenal hyperplasia; characteristic clinical and radiologic findings help differentiate this tissue from other tumors. Levels of corticotropin-releasing hormone are elevated in patients with depression and anxiety and are expected to be elevated in patients with congenital adrenal hyperplasia; it is unknown whether patients with 21-hydroxylase deficiency have an increased incidence of these psychiatric disorders. Abnormalities in both the structure and function of the adrenal medulla have been shown in patients with classic congenital adrenal hyperplasia, and the degree of adrenomedullary impairment may be a biomarker of disease severity. The 21-hydroxylase-deficient mouse has provided a useful model with which to examine disease mechanisms and test new therapeutic interventions in classic disease, including gene therapy. Treatment of this condition is intended to reduce excessive corticotropin secretion and replace both glucocorticoids and mineralocorticoids. However, clinical management is often complicated by inadequately treated hyperandrogenism, iatrogenic hypercortisolism, or both. New treatment approaches currently under investigation include combination therapy to block androgen action and inhibit estrogen production, and bilateral adrenalectomy in the most severely affected patients. Other approaches, which are in a preclinical stage of investigation, include treatment with a corticotropin-releasing hormone antagonist and gene therapy.

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Crossref · 10.7326/0003-4819-136-4-200202190-00012

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Citations

Cites

Show all 90 references

Research works printed but not linked: 15

  1. New MI, 1988, Acta Paediatr Jpn, 30, 79
  2. David M, 1994, Arch Pediatr, 1, 363
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  11. Miller WL, 1999, Adv Intern Med, 44, 155
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Metadata

Authors
Merke, D. P., Bornstein, S. R., Avila, N. A., & Chrousos, G. P.
Affiliations
National Institutes of Health (US)
ORCID
Venue
Annals of Internal Medicine
Publisher
American College of Physicians
Published
2002-02-19
Volume
136
Issue
4
Pages
320-334
ISSN
  • 0003-4819 (ISSN-L)
  • 1539-3704
DOI
10.7326/0003-4819-136-4-200202190-00012
OpenAlex
W2053576425
Semantic Scholar
8b9530c22bd0594e065012a3a57fac6633e9b97d
Cited by
147
References
90
Citations by year
2025: 1 · 2024: 2 · 2023: 4 · 2022: 3 · 2021: 2 · 2019: 4 · 2018: 1 · 2017: 2 · 2016: 6 · 2015: 5 · 2014: 2 · 2013: 5 · 2012: 6
FWCI
4.40
Type
journal article
Language
en
Open access
closed
Licence
www.acpjournals.org/journal/aim/text-and-data-mining (tdm)
Locations
  • Annals of Internal Medicine (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
  • Health Sciences › Medicine › Reproductive Medicine › Ovarian function and disorders
Keywords
congenital adrenal hyperplasia, 21-hydroxylase deficiency, cortisol production, autosomal recessive disorder, non-classical congenital adrenal hyperplasia, classic congenital adrenal hyperplasia, hyperandrogenism, female infertility, polycystic ovary syndrome, adrenal incidentaloma, genotype-phenotype discrepancy, corticotropin-releasing factor, anxiety and depression, glucocorticoid replacement therapy, mineralocorticoid replacement therapy, androgen receptor antagonists, bilateral adrenalectomy, gene therapy, disease severity markers, cancer risk
MeSH terms
Adrenal Hyperplasia, Congenital, Animals, Female, Humans, Male, Steroid 21-Hydroxylase, Models, Animal

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