1) 17α-hydroxylase/17,20-lyase deficiency
17α-羟化酶/17,20-裂解酶缺乏症
2) 17α hydroxylase/17,20 lyase deficiency
17α羟化酶/17,20碳链裂解酶缺陷症
1.
Objective To analyze the clinical and genetic characteristics of 10 Chinese patients with 17α hydroxylase/17,20 lyase deficiency (17OHD).
目的回顾10例17α羟化酶/17,20碳链裂解酶缺陷症(17OHD)患者的资料,分析17OHD的临床特征和分子遗传学特点。
2.
17α hydroxylase/17,20 lyase deficiency (17OHD) is a rare autosomal recessive disorder, characterized by severe hypertension,hypokalemia,sexual infantilism in female, primary amenorrhea, and pseudo hermaphroditism in male.
17α羟化酶/17,20碳链裂解酶缺陷症(17OHD)是先天性肾上腺增生的少见类型。
3) P450c17 enzyme
17α-羟化酶/17,20-碳链裂解酶缺陷症
4) 17α-hydroxylase/17,20 Lyase deficiency
17α-羟化酶/17,20碳链裂解酶缺陷症
1.
Objective To analyze the clinical and molecular genetic characteristics of a patient with 17α-hydroxylase/17,20 Lyase deficiency(17OHD).
目的通过对1例17α-羟化酶/17,20碳链裂解酶缺陷症(17OHD)患者的临床特点和基因突变研究,初步探讨17OHD临床表现的基因分子机制。
5) combined 17-alpha-hydroxylase/17,20-lyase deficiency
17α羟化酶/17,20裂链酶联合缺乏
6) 17α-hydroxylase/17,20-lyase
17α-羟化酶/17,20碳链裂解酶
1.
Background 17α-hydroxylase/17,20-lyase deficiency (17OHD) is a rare form of congenital adrenal hyperplasia leading to hypokalemic, hypertension and sexual abnormalities such as pseudohermaphroditism in males, and sexual infantilism in females.
17α-羟化酶/17,20碳链裂解酶缺乏症是先天性肾上腺皮质增生症中少见的类型,主要表现为低血钾、高血压及性发育障碍,在男性表现为假两性畸形或外阴女性化,而在女性则表现为第二性征发育障碍。
补充资料：17-羟化酶缺乏综合征
17-羟化酶缺乏综合征
又称“Biglieri综合征”。为常染色体隐性遗传，此酶缺乏致皮质醇和性激素合成障碍。女性青春期缺乏第二性征，原发性闭经，卵巢子宫发育不全，面部皮肤皱纹和早老。男性可出现假两性畸形。由于血浆皮质醇低下，促进ACTH分泌增多，致水钠潴留，高血压、低血钾及低钾性碱中毒。儿童期高血压为主要症状之一。治疗包括糖皮质激素替代治疗及性激素替代治疗。基因型男性(46，XY）而外阴为女性幼稚型者，可手术治疗。
说明：补充资料仅用于学习参考，请勿用于其它任何用途。
参考词条