17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency (MPH)

17-β-羟基类固醇脱氢酶III缺乏症(来自ICD-11)

别称:

Neutral 17-Beta-Hydroxysteroid Oxidoreductase Deficiency

Pseudohermaphroditism, Male, with Gynecomastia

17-Ksr Deficiency

17-Beta Hydroxysteroid Dehydrogenase 3 Deficiency

17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency

17-Ketosteroid Reductase Deficiency of Testis

Testosterone 17-Beta-Dehydrogenase Deficiency

17-Ketosteroidreductase Deficiency

17-Ketoreductase Deficiency

46,xy Disorder of Sex Development Due to 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency

46,xy Difference of Sex Development Due to 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency

46,xy Disorder of Sex Development Due to 17-Beta-Hydroxysteroid Dehydrogenase 3

Hydroxysteroid Dehydrogenase Iii Deficiency

Male Pseudohermaphroditism with Gynecomastia

Pseudohermaphroditism Male with Gynecomastia

Male Pseudohermaphrodism with Gynecomastia

17-Hydroxysteroid Dehydrogenase Deficiency

Mph

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基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

17-β类固醇脱氢酶III缺乏症，又称中性17-β类固醇氧化还原酶缺乏症，与包皮过长和男性乳房发育有关。与17-β类固醇脱氢酶III缺乏症相关的基因是HSD17B3（类固醇17-β脱氢酶3），其相关通路/超级通路包括类固醇代谢和类固醇激素代谢。附属组织包括前列腺和睾丸，相关表型包括隐睾和低促性腺激素性低促性腺激素。

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