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1. 11βヒドロキシラーゼ欠損症による先天性副腎過形成 congenital adrenal hyperplasia due to 11 beta hydroxylase deficiency
2. 副腎ステロイド生合成 adrenal steroid biosynthesis
3. 21－ヒドロキシラーゼ欠損症による古典的先天性副腎皮質過形成の診断 diagnosis of classic congenital adrenal hyperplasia due to 21 hydroxylase deficiency
4. 先天性副腎過形成の稀な原因 uncommon causes of congenital adrenal hyperplasia
5. 原発性（本態性）の病因における遺伝的要因 genetic factors in the pathogenesis of primary essential hypertension

Phenotypic, metabolic, and molecular genetic characterization of six patients with congenital adrenal hyperplasia caused by novel mutations in the CYP11B1 gene.

Nguyen HH1, Eiden-Plach A2, Hannemann F2, Malunowicz EM3, Hartmann MF4, Wudy SA4, Bernhardt R5.
The Journal of steroid biochemistry and molecular biology.J Steroid Biochem Mol Biol.2016 Jan;155(Pt A):126-34. doi: 10.1016/j.jsbmb.2015.10.011. Epub 2015 Oct 22.
Congenital adrenal hyperplasia (CAH) is an autosomal recessive inherited disorder of steroidogenesis. Steroid 11β-hydroxylase deficiency (11β-OHD) due to mutations in the CYP11B1 gene is the second most common form of CAH. In this study, 6 patients suffering from CAH were diagnosed with 11β-OHD u
PMID 26476331

Characterization of the molecular genetic pathology in patients with 11β-hydroxylase deficiency.

Mooij CF1,2, Parajes S1, Rose IT1, Taylor AE1, Bayraktaroglu T3, Wass JA4, Connell JM5, Ray DW6, Arlt W1, Krone N1.
Clinical endocrinology.Clin Endocrinol (Oxf).2015 Nov;83(5):629-635. doi: 10.1111/cen.12834. Epub 2015 Jul 14.
OBJECTIVE: Steroid 11β-hydroxylase (CYP11B1) deficiency (11OHD) is the second most common form of congenital adrenal hyperplasia. Nonclassic or mild 11OHD appears to be a rare condition. Our study assessed the residual CYP11B1 function of detected mutations, adding to the spectrum of mild 11OHD, an
PMID 26053152

Chimeric CYP11B2/CYP11B1 causing 11β-hydroxylase deficiency in Chinese patients with congenital adrenal hyperplasia.

Xu L1, Xia W1, Wu X1, Wang X1, Zhao L1, Nie M2.
Steroids.Steroids.2015 Sep;101:51-5. doi: 10.1016/j.steroids.2015.06.002. Epub 2015 Jun 9.
CYP11B1 and CYP11B2 are highly homologous genes that can form chimera following unequal crossing-over during meiosis. A chimeric CYP11B1/CYP11B2 gene causes glucocorticoid-remediable aldosteronism (GRA), while the rare CYP11B2/CYP11B1 chimeric gene leads to 11β-hydroxylase deficiency (11-OHD). The
PMID 26066897

The frequency of lateonset 21-hydroxylase and 11 beta-hydroxylase deficiency in women with polycystic ovary syndrome

11β-水酸化酵素欠損症 : 約 14,500 件
11β-ヒドロキシラーゼ欠損症 : 66 件

関: absence, agenesis, dearth, defect, defective, deficient, deficit, delete, deletion, deletional, depletion, deprivation, deprive, lack, miss, missing, morphological defect, paucity, scarce, scarcity, starve

リンク元	「11β-水酸化酵素欠損症」
関連記事	「deficiency」