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MOLECULAR DIAGNOSIS OF CONGENITAL ADRENAL HYPERPLASIA--PHENOTYPE/GENOTPE

MOLECULAR DIAGNOSIS OF CONGENITAL ADRENAL HYPERPLASIA--PHENOTYPE/GENOTPE
先天性肾上腺增生症的分子诊断--表型/基因型
批准号：
6115506
负责人：
SELMA FELDMAN WITCHEL
金额：
$2.06万
依托单位：
CHILDREN'S HOSP PITTSBURGH/UPMC HLTH SYS
依托单位国家：
美国
项目类别：
财政年份：
1998
资助国家：
美国
项目状态：
已结题
起止时间：
1998-12-01 至 1999-11-30
来源：
https://reporter.nih.gov/project-details/6115506
关键词：
child (0-11) clinical research congenital adrenal hyperplasia endocrine disorder diagnosis enzyme deficiency gene mutation genotype hormone regulation /control mechanism human genetic material tag human subject hypothalamic pituitary adrenal axis oxygenases pathologic process phenotype

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中文摘要
翻译
先天性肾上腺增生症，尤其是21-羟基酶缺乏症，是常见的类固醇合成遗传性疾病。临床特征与分子基因的相关性提供了相对较好的表型/基因相关性。然而，有些患者和家系的表型与特定基因预测的表型不同。对表型与基因无关的家系的调查将提供有关肾上腺类固醇激素生成的信息。21-羟基酶缺乏症的高度杂合性(1/16)提示杂合子优势的可能性。检验这一假说的研究正在进行中。
英文摘要
The congenital adrenal hyperplasias, especially 21-hydroxylase deficiency, are common inherited disorders of steroidogenesis. Correlation of clinical features with molecular genotype has provided a relatively good phenotype/genotype correlation. However, there are patients and families in which the phenotype differs from that predicted for the specific genotype. Investigation of families in which phenotype does not correlate with genotype will provide information about adrenal steroidogenesis. The high prevalence of heterozygosity for 21-hydroxylase deficiency (1/16) suggests the possibility of a heterozygote advantage. Studies are being developed to test this hypothesis.
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会议论文
STUDIES OF ABNORMAL SEXUAL DIFFERENTIATION AND DEVELOPMENT:SERUM INHIBIN B & FSH
STEROIDOGENESIS IN HYPERANDROGENISM
EVALUATION & TREATMENT OF ABNORMALITIES OF GONADAL OR PUBERTAL DEVELOPMENT
MOLECULAR DIAGNOSIS OF CONGENITAL ADRENAL HYPERPLASIA: PHENOTYPE/GENOTYPE
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