They showed the patient had Turner Syndrome, a genetic condition that affects about one in 2,000 baby girls, and congenital adrenal hyperplasia, which increases male hormones. 他们称这位病人患有特纳综合症,每2000个女婴中会有1人存在这种基因状况;同时,他还患有先天性肾上腺增生症,这会增强人的雄性激素。
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. 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。
Study on parents 'demands on health education of children with congenital adrenal hyperplasia 【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
14 cases being congenital adrenal hyperplasia, 3 adrenal adenoma and 3 adrenocortical carcinoma. 肾上腺素与正肾上腺素肾上腺腺瘤3例,肾上腺皮质癌3例。
Objective: To improve the knowledge and early diagnosis of late-onset congenital adrenal hyperplasia ( CAH, CYP21D) combined testis tubercle. 目的提高对迟发型先天性肾上腺皮质增生(CAH)合并睾丸结节的认识和早期诊治水平。
Pilot study on application of antiandrogen ( flutamide) in the treatment of 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
Objective To explore the method for prenatal diagnosis of congenital adrenal hyperplasia ( CAH) with 21-hydroxylase deficiency ( 21-OHD). 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。
Methods Clinical and follow up data were summarized for 42 children with adrenogenital syndrome, including 30 cases of congenital adrenal hyperplasia ( CAH) and 12 cases of adrenal cortex tumor. 方法总结42例小儿肾上腺性征异常症的临床资料,其中先天性肾上腺皮质增生(CAH)30例,肾上腺皮质肿瘤12例。
The diagnosis and management of genital virilization in female patients with congenital adrenal hyperplasia 先天性肾上腺皮质增生所致女性外生殖器男性化畸形的诊断与治疗
The application of high-performance liquid chromatography to the diagnosis and classification of congenital adrenal hyperplasia 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
Birth length and weight in congenital adrenal hyperplasia according to the different phenotypes 不同表型先天性肾上腺增生症患儿的出生身长和体重
[ Conclusion] Serum testosterone, combined with clinical significance and blood chemistry are contributed to early diagnosis of congenital adrenal hyperplasia in newborns with skin hyperpigmentation. 【结论】对于皮肤色素加深的新生儿,血清睾酮的测定有助于CAH的早期诊断,但应结合临床和血生化检查。对血清睾酮同样增高而不伴电?
Objective To report the effect of hormone replacement plus orthopedic surgery for 4 patients with female pseudohermaphroditism caused by congenital adrenal hyperplasia. 目的报告4例先天性肾上腺皮质增生所致女性假两性畸形患者的激素替代治疗加手术整形的效果。
Progress in molecular-genetic researches on congenital adrenal hyperplasia& 11 β-hydroxylase deficiency 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
Objective: To improve the level of diagnosis and treatment of female pseudohermaphroditism induced by congenital adrenal hyperplasia ( CAH). 目的:提高对先天性肾上腺皮质增生所致女性假两性畸形的诊断和处理水平。
Diagnosis and treatment of female pseudohermaphroditism caused by congenital adrenal hyperplasia ( report of 4 cases) 先天性肾上腺皮质增生致女性假两性畸形的诊治(附四例报告)
Objective To investigate the incidence of congenital adrenal hyperplasia ( CAH) in Shanghai areas by a neonatal screening program. 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。
Molecular genetic analysis of congenital lipoid adrenal hyperplasia 先天性类脂质性肾上腺增生症分子遗传学分析