| Extensive clinical experience: nonclassical 21-hydroxylase deficiency. | |
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MedLine Citation:
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PMID: 16912124 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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:
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Maria I New |
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Publication Detail:
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Type: Journal Article; Research Support, N.I.H., Extramural; Review Date: 2006-08-15 |
Journal Detail:
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Title: The Journal of clinical endocrinology and metabolism Volume: 91 ISSN: 0021-972X ISO Abbreviation: J. Clin. Endocrinol. Metab. Publication Date: 2006 Nov |
Date Detail:
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Created Date: 2006-11-07 Completed Date: 2007-01-12 Revised Date: 2009-07-17 |
Medline Journal Info:
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Nlm Unique ID: 0375362 Medline TA: J Clin Endocrinol Metab Country: United States |
Other Details:
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Languages: eng Pagination: 4205-14 Citation Subset: AIM; IM |
Affiliation:
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Adrenal Steroid Disorders Program, Department of Pediatrics, Mount Sinai School of Medicine, New York, New York 10029, USA. maria.new@mssm.edu |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adrenal Hyperplasia, Congenital
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diagnosis*,
psychology,
therapy* Awareness Female Gene Frequency Genotype Humans Metabolism, Inborn Errors / diagnosis, psychology, therapy Models, Biological Molecular Biology Phenotype Prenatal Diagnosis Steroid 21-Hydroxylase / genetics* |
| Grant Support | |
ID/Acronym/Agency:
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HD00072/HD/NICHD NIH HHS; RR19484/RR/NCRR NIH HHS |
| Chemical | |
Reg. No./Substance:
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EC 1.14.99.10/Steroid 21-Hydroxylase |
| Comments/Corrections | |
Erratum In:
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J Clin Endocrinol Metab. 2007 Jan;92(1):142 Note: Dosage error in article text |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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