The DOI matches its Crossref record; 92 of the 102 references it cites were found in a registry or an index.
Nonclassical 21-Hydroxylase Deficiency
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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“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 [418]
Citations
Cites
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Speiser, P. W., Azziz, R., Baskin, L. S., Ghizzoni, L., Hensle, T. W., Merke, D. P., Meyer-Bahlburg, H. F. L., Miller, W. L., Montori, V. M., Oberfield, S. E., et al. (2010) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2009-2631 · Cited by 1,468
Congenital adrenal hyperplasia
El-Maouche, D., Arlt, W., & Merke, D. P. (2017) · The Lancet · doi:10.1016/s0140-6736(17)31431-9 · Cited by 669
Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management
Claahsen - van der Grinten, H. L., Speiser, P. W., Ahmed, S. F., Arlt, W., Auchus, R. J., Falhammar, H., Flück, C. E., Guasti, L., Huebner, A., Kortmann, B. B. M., et al. (2022) · Endocrine Reviews · doi:10.1210/endrev/bnab016 · Cited by 556
New, M. I., Abraham, M., Gonzalez, B., Dumic, M., Razzaghy-Azar, M., Chitayat, D., Sun, L., Zaidi, M., Wilson, R. C., & Yuen, T. (2013) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1300057110 · Cited by 365
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Metadata
- 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
- 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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