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...
2004. Neonatal salt-wasting and 11 b-hydroxylase deficiency in a child carrying a homozygous deletion hybrid CYP11B2 (aldosterone synthase)-CYP11B1 (11 b-hydroxylase). Clin Genet. 66:229-235.Ezquieta B,Luzuriaga C.Neonatal salt-wasting and 11 beta-hydroxylase deficiency in a child carrying ...
21-hydroxylase deficiency (21-OHD), which has a frequency of up to 1:800 depending on the population.2 This underscores the importance to screen patients with such a phenotype lacking elevated levels of 17-OHP or mutations within the CYP21A2 gene for 11b-OHD. This can be easily done by ...
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 ...
Congenital adrenal hyperplasia (CAH) is one of the most common autosomal recessive inherited endocrine disease. Steroid 11β-hydroxylase deficiency (11β-OHD) is the second most common form of CAH. The aim of the study was to study the functional consequ
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 ...
SummaryWe report a child in whom DOC excess secondary to congenital adrenal hyperplasia (CAH, 11尾-hydroxylase deficiency) caused malignant hypertension. Clinical and metabolic control could be achieved only by replacement of both glucocorticoid and mineralocorticoid, thus confirming in clinical practice ...
The value of low dose (1 microg) ACTH stimulation test in the investigation of non-classic adrenal hyperplasia due to 11beta-hydroxylase deficiency Colak R.The value of lowdose (1microg) ACTH stimulation test in the investigation of non-classic adrenalhyperplasia due to llbeta-hydroxylase defici...
Congenital adrenal hyperplasia (CAH) due to steroid 11-beta hydroxylase deficiency (11beta-OHD) is a rare genetic disorder of steroidogenesis transmitted as an autosomal recessive trait. We describe a new case of 11beta-OHD CAH caused by compound heterozygosity for a nov...