NON CLASSICAL 21 HYDROXYLASE DEFICIENCY IN CHILDREN
نویسندگان
چکیده
منابع مشابه
H62L Mutation of CYP21A2 Identified in the Non-classical Form of 21-Hydroxylase Deficiency
Received: April 1, 2009 Accepted: May 13, 2009 Correspondence: Dr. Keisuke Nagasaki, Division of Pediatrics, Department of Homeostatic Regulation and Development, Niigata University Graduate School of Medicine and Dental Sciences, 1-757 Asahimachi, Niigata 951-8510, Japan E-mail: [email protected] H62L Mutation of CYP21A2 Identified in the Non-classical Form of 21-Hydroxylase Deficiency
متن کاملGlucocorticoid-Induced Osteoporosis in Children with 21-Hydroxylase Deficiency
21-Hydroxylase deficiency (21-OHD) is the most common cause of congenital adrenal hyperplasia (CAH), resulting from deletions or mutations of the P450 21-hydroxylase gene (CYP21A2). Children with 21-OHD need chronic glucocorticoid (cGC) therapy, both to replace congenital deficit in cortisol synthesis and to reduce androgen secretion by adrenal cortex. GC-induced osteoporosis (GIO) is the most ...
متن کاملGenetic analysis of two Japanese patients with non-classical 21-hydroxylase deficiency.
We report two Japanese women with androgen excess symptoms. Analyses of 21-hydroxylase gene demonstrated that a 24-year-old Japanese woman had a homozygous mutation of IVS2-13 A/C>G, while a 25-year-old Japanese woman had a compound heterozygous mutation of I172N and E245del1nt, a novel mutation which would result in completely nonfunctional enzyme due to a frame shift. As IVS2-13 A/C>G and I17...
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 کاملExtensive 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...
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ژورنال
عنوان ژورنال: Pediatric Research
سال: 1988
ISSN: 0031-3998,1530-0447
DOI: 10.1203/00006450-198801000-00173