先天性肾上腺增生症

背景与目的：先天性肾上腺增生症（congenitaladrenalhyperplasia，CAH）是一组常染色体隐形遗传疾病，是最常见的遗传性内分泌疾病之一。

Background and purpose : Congenital adrenal hyperplasia ( CAH ) is a group of autosomal recessive disorder . It is one of the commonest genetic endocrinological diseases .

不同表型先天性肾上腺增生症患儿的出生身长和体重

Birth length and weight in congenital adrenal hyperplasia according to the different phenotypes

先天性肾上腺增生症&11β-羟化酶缺乏症的分子遗传学研究进展

Progress in molecular-genetic researches on congenital adrenal hyperplasia & 11 β - hydroxylase deficiency

高效液相色谱法在先天性肾上腺增生症诊断和分型中的应用

The application of high-performance liquid chromatography to the diagnosis and classification of congenital adrenal hyperplasia

而先天性肾上腺增生症通常在每15000个婴儿中的一人身上发生，这种疾病将导致男性体征过早出现或不适当地出现。

Congenital adrenal hyperplasia affects one in around 15,000 births and causes male characteristics to appear early or inappropriately .

报告4例儿童21-羟化酶缺陷型先天性肾上腺皮质增生症。

Four cases of defects in 21-hydroxylation of congenital hyperplasia have been reported .

【医】婴儿骨外层肥厚症先天性肾上腺皮质增生症患儿家长的健康教育需求研究

Study on parents ' demands on health education of children with congenital adrenal hyperplasia

雄激素拮抗剂氟他胺在先天性肾上腺皮质增生症治疗中应用探索

Pilot study on application of antiandrogen ( flutamide ) in the treatment of congenital adrenal hyperplasia

目的在上海地区新生儿疾病筛查项目中调查先天性肾上腺皮质增生症的发病率。

Objective To investigate the incidence of congenital adrenal hyperplasia ( CAH ) in Shanghai areas by a neonatal screening program .

目的探讨先天性肾上腺皮质增生症21羟化酶缺陷的产前诊断方法。

Objective To explore the method for prenatal diagnosis of congenital adrenal hyperplasia ( CAH ) with 21-hydroxylase deficiency ( 21-OHD ) .

另外5例为早产原因所致17OHP升高。结论干血滤纸片法测定17羟孕酮适用于大规模开展先天性肾上腺皮质增生症筛查。

Conclusions Determining 17 OHP level on dried blood spotted filter paper is a reliable and practical approach for CAH mass screening in neonates .

本文报道一例先天性肾上腺皮质增生症（11&β-羟化酶缺乏）的女性患者，并对本症的临床、诊断及治疗进行了讨论。

Here reported is a female pseudohermaphroditism due to 11 - β - hydroxylase deficit . Its clinical forms , diagnosis and treatment were discussed .

最常见的原因是先天性肾上腺皮质增生症引起的性别的模棱两可，内分泌紊乱的情况下，肾上腺产生水平高得异常的激素。

The most common cause of sexual ambiguity is congenital adrenal hyperplasia , an endocrine disorder where the adrenal glands produce abnormally high levels of hormones .

目的开展新生儿先天性肾上腺皮质增生症筛查，降低残疾儿童的发生率，提高人口素质。

Objective To develop the neonatal screening for congenital adrenal hyperplasia in order to prevent children from congenital disability and improve the aristogenesis in our country .

McCune-Albright综合征5例，卵巢囊肿2例，卵巢颗粒细胞瘤、先天性肾上腺皮质功能增生症各1例。

Cases of wrong contraceptive intake were 29,5 cases of McCune-Albright syndrome , 2 cases of ovarian cyst , 1 case of ovarian granular cell tumor , 1 case of congenital adrenal hyperplasia .

先天性类脂质性肾上腺增生症分子遗传学分析

Molecular genetic analysis of congenital lipoid adrenal hyperplasia