11-Beta-Hydroxylase Deficient Congenital Adrenal Hyperplasia in a Toddler: Clinical Presentation and Management Challenges in a Developing Country11-beta-hydroxylase deficiencycongenital adrenal hyperplasiaheart failure1hypertensionThis paper reported a case of an eighteen-month old Nigerian girl with 11-beta...
先天性肾上腺增生症(11-β-羟化酶缺乏症)的英文名字是Congenital Adrenal Hyperplasia, 11-Beta-Hydroxylase Deficiency。基因解码表明:佳学基因通过基因解码发现:先天性肾上腺增生症(11-β-羟化酶缺乏症)是由基因突变引起的。这种疾病通常是由CYP11B1基因的突变引起的,该基因编码11-β-羟化酶酶,该酶在肾上腺皮质中...
单词11 beta-hydroxylase deficiency 释义11 beta-hydroxylase deficiency《英汉医学词典》11 beta-hydroxylase deficiency;11β-羟化酶缺乏
CONTEXT: Steroid 11beta-hydroxylase (CYP11B1) deficiency (11OHD) is the second most common form of congenital adrenal hyperplasia (CAH). Cases of nonclassic 11OHD are rare compared with the incidence of nonclassic 21-hydroxylase deficiency. OBJECTIVE: The aim of the study was to analyze the...
11β-hydroxylase deficiency; congenital adrenal hyperplasia; precocious puberty; urine steroid profiles; virilisation Abstract: A 3.5-year-old Vietnamese boy presented with precocious pseudopuberty, hypertension and a skin rash that was treated with Vietnamese medications for 6 weeks, with resolution....
Case Report: A Novel Mutation Leading to 11-beta Hydroxylase Deficiency in a Female Patient Depending on the severity of the enzyme deficiency, it can lead to cortisol deficiency, androgen excess and hypertension due to increased mineralocorticoid ... B Ozbas,M Demir,H Dursun,... - 《Endocrine...
Steroid 11beta-hydroxylase deficiency congenital adrenal hyperplasia. Hiperplasia suprarrenal congenita por deficit de 11-beta-hidroxilasa: descripcion de una nueva mutacion, R384X The oral antifungal agent ketoconazole inhibits 11beta-hydroxylase and C17-20 lyase enzymes, and therefore diminishes the ...
Steroid 11-beta-hydroxylase deficiency is a relatively rare form of congenital adrenal hyperplasia (CAH). We describe the case of a 46,XX child, reared as a male, who first presented to us at the age of three years with features of peripheral precocity and hypokalemic hypertension. Based ...
A mutation in CYP11B1 (Arg-448---His) associated with steroid 11 beta-hydroxylase deficiency in Jews of Moroccan origin. (1991) A mutation in CYP11B1 (Arg-448---His) associated with steroid 11 beta-hydroxylase deficiency in Jews of Moroccan origin. J. Clin. Invest., ... PC White,J...
congenital adrenal hyperplasiaCYP11β1 deficiencyObjective : To review experience of CYP11β1 deficiency (previously known as 11β-hydroxylase) at the Royal Children's Hospital, Melbourne, Victoria.doi:10.1111/j.1440-1754.1996.tb00945.xCP BURREN...