Nonclassical 21-Hydroxylase Deficiency
نویسندگان
چکیده
منابع مشابه
Extensive clinical experience: nonclassical 21-hydroxylase deficiency.
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 u...
متن کاملA male case of nonclassical 21-hydroxylase deficiency first manifested in his sixties with adrenocortical incidentaloma.
Nonclassical form of 21-hydroxylase deficiency (NC 21OHD) as a frequent variant on the milder end of the disease spectrum has been widely acknowledged, but its potential contribution to adrenocortical tumorigenesis has not been fully elucidated. We report a 66-year old male case of bilateral adrenocortical incidentaloma, associated with partial 21OHD without any episodes of hypoadrenocorticism ...
متن کامل21-Hydroxylase Deficiency: Newborn Screening in Iran?
Nejat Mahdieh1,2, PhD; Bahareh Rabbani1, PhD, and Ali Rabbani*1,3, MD 1. Growth and Development Research Center, Tehran University of Medical Sciences, Tehran, Iran 2. Faculty of Medicine, Ilam University of Medical Sciences, Ilam , Iran 3. Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran 21-hydroxylase deficiency (21-OHD) accounts for the cause of 90-95% of ...
متن کاملHLA Haplotype Associated with 21-Hydroxylase Deficiency
We have segregated DRI+ individuals into two categories according to whether or not their class II+ cells stimulated T lymphocyte clones specific for or restricted to DR1. In a majority of cases (87%), failure to stimulate was a property of cells having the B14;DR1 haplotype and/or nonclassical 21-hydroxylase deficiency. Absence of clonal proliferation could not be explained by release of an in...
متن کاملNeonatal mass screening for 21-hydroxylase deficiency.
Congenital adrenal hyperplasia(CAH)due to 21-hydroxylase deficiency (21-OHD) is an inherited autosomal recessive disorder. Its incidence is 1 in 10,000 to 20,000 worldwide. This disease shows phenotypic differences, and it is divided into three forms i.e., the salt wasting (SW), simple virilizing (SV), and nonclassic (NC) forms. The most severe form of SW manifests in the first months of life w...
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ژورنال
عنوان ژورنال: The Journal of Clinical Endocrinology & Metabolism
سال: 2006
ISSN: 0021-972X,1945-7197
DOI: 10.1210/jc.2006-1645