Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete (AICSR)

先天性肾上腺功能不全伴部分或完全46,XY性反转(来自ICD-11)

别称:

Congenital Adrenal Insufficiency

P450scc Deficiency

Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal

Congenital Adrenal Insuffiency with 46, Xy Sex Reversal or 46,xy Disorder of Sex Development-Adrenal Insufficiency Due to Cyp11a1 Deficiency

46,xy Difference of Sex Development-Adrenal Insufficiency Due to Cyp11a1 Deficiency

46,xy Disorder of Sex Development-Adrenal Insufficiency Due to Cyp11a1 Deficiency

Adrenal Insufficiency, Congenital, with 46xy Sex Reversal, Partial or Complete

Adrenal Insufficiency Congenital with 46,xy Sex Reversal Partial or Complete

Adrenal Insufficiency, Congenital

Xy Sex Reversal-Adrenal Failure

Congenital Adrenal Hyperplasia

Adrenogenital Syndrome

Aicsr

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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

先天性肾上腺功能不全伴46,xy性反转部分或完全，也称为先天性肾上腺功能不全，与卵巢早衰7和急性肾上腺功能不全有关。与先天性肾上腺功能不全伴46,xy性反转部分或完全相关的基因是CYP11A1（细胞色素P450家族11亚家族A成员1），其相关通路/超通路包括传染病和代谢。在该疾病的背景下提到了泼尼松和地塞米松。附属组织包括肾上腺和子宫，相关表型为胼胝体发育不全和生长发育不良。

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