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Cited by 178Sexual Differentiation and DisordersAdrenal Hormones and DisordersMetabolism and Genetic Disorders

The DOI matches its Crossref record; 418 of the 418 references it cites were found in a registry or an index.

An Update of Congenital Adrenal Hyperplasia

NEW, MARIA I.·2004·Annals of the New York Academy of Sciences
DOI 10.1196/annals.1315.009
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Abstract

Congenital adrenal hyperplasia (CAH) is a family of autosomal recessive disorders caused by mutations that encode for enzymes involved in one of the various steps of adrenal steroid synthesis. These defects result in the absence or the decreased synthesis of cortisol from its cholesterol precursor. The anterior pituitary secretes excess adrenocorticotrophic hormone (ACTH) via feedback regulation by cortisol, which results in overstimulation of the adrenals and causes hyperplasia. Symptoms due to CAH can vary from mild to severe depending on the degree of ensymatic defect. In the classical form of CAH, there is a severe enzymatic defect owing to mutations in the CYP21 gene. Classically affected female fetuses undergo virilization of the genitalia prenatally and present with genital ambiguity at birth; however, prenatal treatment of CAH with dexamethasone to prevent ambiguity has been successfully utilized for over a decade. In the less severe, late-onset form of CAH, prenatal virilization does not occur. The milder enzyme deficiency was termed nonclassical 21-hydroxylase deficiency (NC21OHD) in 1979 and was later found to be the most common autosomal recessive disorder in humans. Disease frequency of NC21OHD varies between ethnic groups with the highest ethnic-specific disease frequency in Ashkenazi Jews at 1/27. NC21OHD is diagnosed by serum elevations of 17-OHP that plot on a nomogram between the range for unaffected individuals and levels observed for classical CAH and is typically confirmed with molecular genetic analysis. Similar to classical CAH, nonclassical 21-hydroxylase deficiency may cause premature development of pubic hair, advanced bone age, accelerated linear growth velocity and diminished final height in both males and females. Severe cystic acne has also been attributed to nonclassical CAH. Women may present with symptoms of androgen excess, including hirsutism, temporal baldness, and infertility. Menarche in females may be normal or delayed and secondary amenorrhea is a frequent occurrence. Polycystic ovary syndrome may also be seen in these patients. In males, early beard growth, acne, and growth spurt may prompt the diagnosis of NC21OHD. Although many males appear to be asymptomatic, they may present with oligozoospermia or diminished fertility. Individuals presenting to dermatology and infertility clinics with symptoms of hyperandrogenemia are rarely screened for NC21OHD. However, with hormonal and molecular genetic screening, previously undiagnosed patients may be identified and can therefore receive glucocorticoid treatment, which has been shown to reverse symptoms within 3 months.

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Research works printed but not linked: 23

  1. Crecchio L., 1865, Sopra un caso di apparenzi virili in una donna, Morgagni, 7, 154
  2. Ganong W. 1963. The central nervous system and the synthesis and release of adrenocorticotrophic hormone.InAdvances in Neuroendocrinology. A. Nalbandov Ed.: 92. University of Illinois Press. Urbana.
  3. Guillemin R. & A. Schally. 1963. Recent advances in the chemistry of neuroendocrine mediators originating in the central nervous system.InAdvances in Neuroendocrinology. A. Nalbandov Ed.: 314. University of Illinois Press. Urbana.
  4. 10.1210/jc.84.12.4410 · DOI · Paper page
  5. 10.1210/jc.79.6.1811 · DOI
  6. 10.1210/jc.81.2.482 · DOI
  7. New M. & L. Levine. 1981. Adrenal hyperplasia in intersex states.InPediatric and Adolescent Endocrinology. Z. Laron & P. Tikva Eds. Vol.8:51. S. Karger. Basel.
  8. Decourt M.J., 1957, Virilisme cliniquement tardif avec excretion de pregnanetriol et insuffisance de la production du cortisol, Ann. Endocrinol. (Paris), 18, 416
  9. 10.1210/jc.74.2.248 · DOI
  10. New M.I. J.M. Gertner P.W. Speiser & P. del Balzo. 1991. Growth and final height in congenital adrenal hyperplasia (classical 21‐hydroxylase deficiency) and in nonclassical 21‐hydroxylase deficiency.InGrowth Disorders: The State of the Art. L. Cavallo J.C. Job & M.I. New Eds. Vol.81:105–110. Raven Press. New York City.
  11. 10.1210/jc.74.3.685 · DOI · Paper page
  12. Wentz A. S. Garcia G. Klingensmith et al.1977. Hypothalamic maturation in congenital adrenal hyperplasia.InCongenital Adrenal Hyperplasia. P. Lee L. Plotnick A. Kowarski & C. Migeon Eds.: 379. University Park Press. Baltimore.
  13. Kirkland R. B. Keenan & G. Clayton. 1977. Long‐term follow‐up of patients with congenital adrenal hyperplasia in Houston.InCongenital Adrenal Hyperplasia P. Lee L. Plotnick A. Kowarski & C. Migeon Eds.: 273. University Park Press. Baltimore.
  14. Mori M., 1970, Congenital adreogenital syndrome and successful pregnancy: report of a case, J. Obstet. Gynecol., 35, 394
  15. Wilkins L. 1965. The Diagnosis and Treatment of Endocrine Disorders. Charles C. Thomas. Springfield IL pp. 368–381.
  16. Raiti S. N. Maclaren & F. Akesode. 1977. Gonadotropin‐adrenal‐testicular axis in males with congenital adrenal hyperplasia and idiopathic sexual precocity.InCongenital Adrenal Hyperplasia. P. Lee L. Plotnick A. Kowarski & C. Migeon Eds.: 403. University Park Press. Baltimore.
  17. 10.1210/jc.77.1.86 · DOI
  18. 10.1210/me.6.8.1211 · DOI · Paper page
  19. Josso N. 2001. Anatomy and endocrinology of fetal sex differentiation. In Endocrinology. L. DeGroot and J. Jameson Eds.: 1947–1954. W.B. Saunders Company. Philadelphia PA.
  20. Wilson R.C.et al.1995. Rapid DNA analysis by allele‐specific PCR for detection of mutations in the steroid 21‐hydroxylase gene. J. Clin. Endocrinol. Metab.80(5): 1635–1640. · DOI
  21. 10.1210/jc.83.11.3872 · DOI · Paper page
  22. 10.1210/jc.80.7.2014 · DOI
  23. Bartter F. 1977. Adrenogenital syndromes from physiology to chemistry.InCongenital Adrenal Hyperplasia. P. Lee L.P. Plotnick A. Kowaraski & C. Migeon Eds.: 9. University Park Press. Baltimore.

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Metadata

Authors
NEW, M. I.
Affiliations
Mount Sinai Hospital (US)
Corresponding author
NEW, MARIA I.
Venue
Annals of the New York Academy of Sciences
Publisher
Wiley
Published
2004-12
Volume
1038
Issue
1
Pages
14-43
ISSN
  • 0077-8923 (ISSN-L)
  • 1749-6632
DOI
10.1196/annals.1315.009
OpenAlex
W2095619793
Cited by
178
References
417
Citations by year
2025: 2 · 2024: 2 · 2023: 1 · 2022: 4 · 2021: 5 · 2020: 16 · 2019: 3 · 2018: 2 · 2017: 6 · 2016: 10 · 2015: 4 · 2014: 7 · 2013: 12 · 2012: 7
FWCI
3.67
Type
journal article
Language
en
Open access
closed
Licence
onlinelibrary.wiley.com/termsAndConditions#vor (vor, 411 d)
Locations
  • Annals of the New York Academy of Sciences (publishedVersion)
  • PubMed (publishedVersion)
  • Institutional Research Information System University of Turin (University of Turin) (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, CYP21, ambiguous genitalia, 17-hydroxyprogesterone, hyperandrogenism, infertility, polycystic ovary syndrome, Ashkenazi Jews, molecular genetic screening, enzyme replacement therapy
MeSH terms
Adrenal Hyperplasia, Congenital, Female, Genotype, Hormones, Humans, Male, Menstruation, Prenatal Diagnosis, Puberty, Steroid 21-Hydroxylase

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