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

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An Update of Congenital Adrenal Hyperplasia

NEW, MARIA I.·2004·Annals of the New York Academy of Sciences

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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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Congenital Adrenal Hyperplasia (CAH)
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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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An Update of Congenital Adrenal Hyperplasia

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