46,xy Disorder of Sex Development

Alias:

46,xy Dsd Due to a Defect in Testosterone Metabolism

Male Pseudohermaphroditism with Androgen Resistance

Male Pseudohermaphroditism with Feminizing Testis

Tfm - [testicular Feminisation Syndrome]

Peripheral Androgen Receptor Disorder

Testicular Feminization Syndrome

Testicular Feminisation Syndrome

Androgen Insensitivity Syndrome

Syndrome of Feminising Testes

Syndrome of Feminizing Testes

Androgen Resistance Syndrome

Goldberg-Maxwell Syndrome

Goldberg-Morris Syndrome

Testicular Feminisation

Morris Syndrome

46,xy Dsd

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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

46,xy性发育障碍，也称为46,xy性发育障碍，由于睾酮代谢缺陷引起，与Leydig细胞发育不良和46,xy性反转3有关。与46,xy性发育障碍有关的重要基因是NR5A1（核受体亚家族5组A成员1），其相关通路/超级通路包括NFAT和心肌肥厚和Hippo-Merlin信号失衡。该药物雄激素已在该疾病的背景下被提及。附属组织包括睾丸和睾丸，相关表型是shRNA丰度增加（Z-score>2）和稳态/代谢

Related ID：

MALACARDS：46X085

ICD11：1688293388