46,xy Disorder of Sex Development

46,xy Disorder of Sex Development(来自ICD-11)

别称:

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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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

46,xy Disorder of Sex Development, also known as 46,xy dsd due to a defect in testosterone metabolism, is related to leydig cell hypoplasia and 46,xy sex reversal 3. An important gene associated with 46,xy Disorder of Sex Development is NR5A1 (Nuclear Receptor Subfamily 5 Group A Member 1), and among its related pathways/superpathways are NFAT and Cardiac Hypertrophy and Hippo-Merlin signaling dysregulation. The drug Androgens has been mentioned in the context of this disorder. Affiliated tissues include testes and testis, and related phenotypes are Increased shRNA abundance (Z-score > 2) and homeostasis/metabolism

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