Cited by 315Sexual Differentiation and DisordersAdrenal Hormones and DisordersOvarian function and disorders

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Nonclassical 21-Hydroxylase Deficiency

New, Maria I.·2006·The Journal of Clinical Endocrinology & Metabolism

DOI 10.1210/jc.2006-1645

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Abstract

Context: Nonclassical congenital adrenal hyperplasia (CAH) owing to steroid 21-hydroxylase deficiency (NC21OHD) is the most frequent of all autosomal recessive genetic diseases, occurring in one in 100 persons in the heterogeneous New York City population. NC21OHD occurs with increased frequency in certain ethnic groups, such as Ashkenazi Jews, in whom one in 27 express the disease. NC21OHD is underdiagnosed in both male and female patients with hyperandrogenic symptoms because hormonal abnormalities in NC21OHD are only mild to moderate, not severe as in the classical form of CAH. Unlike classical CAH, NC21OHD is not associated with ambiguous genitalia of the newborn female. Main Outcome Measures: The hyperandrogenic symptoms include advanced bone age, early pubic hair, precocious puberty, tall stature, and early arrest of growth in children; infertility, cystic acne, and short stature in both adult males and females; hirsutism, frontal balding, polycystic ovaries, and irregular menstrual periods in females; and testicular adrenal rest tissue in males. Conclusions: The signs and symptoms of hyperandrogenism are reversed with dexamethasone treatment.

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Authors: New, M. I.
Affiliations: Icahn School of Medicine at Mount Sinai (US)
Corresponding author: New, Maria I.
Venue: The Journal of Clinical Endocrinology & Metabolism
Publisher: The Endocrine Society
Published: 2006-11-01
Volume: 91
Issue: 11
Pages: 4205-4214
ISSN: 0021-972X (ISSN-L)
1945-7197
DOI: 10.1210/jc.2006-1645
OpenAlex: W2078319644
Cited by: 315
References: 102
Citations by year: 2026: 3 · 2025: 7 · 2024: 10 · 2023: 16 · 2022: 12 · 2021: 10 · 2020: 13 · 2019: 17 · 2018: 7 · 2017: 18 · 2016: 21 · 2015: 19 · 2014: 20 · 2013: 22 · 2012: 17
FWCI: 1.38
Type: journal article
Language: en
Open access: closed
Locations: The Journal of Clinical Endocrinology & Metabolism (publishedVersion)
PubMed (publishedVersion)
Funders: National Center for Research Resources (RR19484, U54RR019484)
Eunice Kennedy Shriver National Institute of Child Health and Human Development (HD 00072)
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: non-classical congenital adrenal hyperplasia, 21-hydroxylase deficiency, hyperandrogenism, Ashkenazi Jews, ethnic prevalence, precocious puberty, hirsutism, polycystic ovary syndrome, dexamethasone treatment, autosomal recessive inheritance
MeSH terms: Adrenal Hyperplasia, Congenital, Awareness, Female, Gene Frequency, Genotype, Humans, Metabolism, Inborn Errors, Models, Biological, Molecular Biology, Phenotype, Prenatal Diagnosis, Steroid 21-Hydroxylase

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Nonclassical 21-Hydroxylase Deficiency

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