Non-classic congenital adrenal hyperplasia

Witchel, Selma Feldman

doi:10.1016/j.steroids.2013.04.010

Cited by 52Sexual Differentiation and DisordersAdrenal Hormones and DisordersOvarian function and disorders

Non-classic congenital adrenal hyperplasia

Witchel, Selma Feldman·2013·Steroids

DOI 10.1016/j.steroids.2013.04.010

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Abstract

Non-classic or late-onset congenital adrenal hyperplasia (NCAH) due to 21-hydroxylase deficiency is one of the most common autosomal recessive disorders. Reported prevalence is approximately 1 in 1000. Affected individuals typically present due to signs and symptoms of androgen excess. The purpose of this review is to provide current information regarding the pathophysiology, molecular genetics, and management of this common disorder. The treatment of NCAH needs to be directed towards the symptoms. For affected children, goals of treatment include normal linear growth velocity, normal rate of skeletal maturation, "on-time" puberty. For affected adolescent and adult women, goals of treatment include regular menstrual cycles, prevention or progression of hirsutism and acne, and fertility. Treatment needs to be individualized and should not be initiated merely to decrease abnormally elevated hormone concentrations.

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No general guidelines exist for the management and follow-up of patients with NC CAH, and the overall evidence of recommendations for NC CAH is low.
“In contrast to classic CAH, no general guidelines exist for the management and follow-up of these patients and the overall evidence of recommendations for NC CAH is low (134,342,417-419).”
From Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management (2022) · cites this paper as [417]
Most studies describe nearly normal adult height in NC CAH patients.
“However, most studies describe nearly normal adult height in NC CAH patients (417,423-425).”
From Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management (2022) · cites this paper as [417]

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Authors: Witchel, S. F.
Affiliations: University of Pittsburgh (US)
Corresponding author: Witchel, Selma Feldman
ORCID: Witchel, Selma Feldman
Venue: Steroids
Publisher: Elsevier BV
Published: 2013-08
Volume: 78
Issue: 8
Pages: 747-750
ISSN: 0039-128X (ISSN-L)
DOI: 10.1016/j.steroids.2013.04.010
OpenAlex: W2073931925
Semantic Scholar: 536f61b724038cea6bb5af351edefaca1bfcb423
Cited by: 52
References: 40
Citations by year: 2026: 3 · 2025: 2 · 2024: 4 · 2023: 5 · 2022: 4 · 2021: 7 · 2020: 1 · 2019: 5 · 2018: 1 · 2017: 5 · 2016: 4 · 2015: 7 · 2014: 3 · 2013: 1
FWCI: 0.47
Type: journal article
Language: en
Open access: closed
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
Locations: Steroids (publishedVersion)
PubMed (publishedVersion)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › 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: non-classical congenital adrenal hyperplasia, 21-hydroxylase deficiency, hyperandrogenism, pathophysiology, molecular genetics, treatment goals, puberty, growth rate, skeletal maturation, menstrual cycle, hirsutism, acne, fertility, personalized treatment
MeSH terms: Adolescent, Adrenal Hyperplasia, Congenital, Adult, Child, Female, Fertility, Humans, Hydrocortisone, Male, Sexual Maturation

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Non-classic congenital adrenal hyperplasia

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