Pseudovaginal Perineoscrotal Hypospadias (PPSH)

Pseudovaginal Perineoscrotal Hypospadias(来自ICD-11)

别称:

Micropenis

Ppsh

46,xy Disorder of Sex Development Due to 5-Alpha-Reductase 2 Deficiency

Male Pseudohermaphroditism Due to 5-Alpha-Reductase Deficiency

46,xy Dsd Due to 5-Alpha-Reductase 2 Deficiency

Steroid 5-Alpha-Reductase 2 Deficiency

5-Alpha Reductase Deficiency

Microphallus

46,xy Difference of Sex Development Due to 5-Alpha-Reductase 2 Deficiency

Familial Incomplete Male Pseudohermaphroditism, Type 2

3-Oxo-5 Alpha-Steroid Delta 4-Dehydrogenase Deficiency

Familial Incomplete Male Pseudohermaphroditism Type 2

Hypospadias, Perineoscrotal, Pseudovaginal

Steroid 5-Alpha-Reductase Deficiency

5-Ard Deficiency

Mcrpens

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Pseudovaginal Perineoscrotal Hypospadias, also known as micropenis, is related to leydig cell hypoplasia and leydig cell hypoplasia type ii. An important gene associated with Pseudovaginal Perineoscrotal Hypospadias is SRD5A2 (Steroid 5 Alpha-Reductase 2), and among its related pathways/superpathways are Metabolism of steroids and Transcription Androgen Receptor nuclear signaling. The drugs Hyaluronic acid and Immunologic Factors have been mentioned in the context of this disorder. Affiliated tissues include testes and skin, and related phenotypes are cryptorchidism and decreased fertility

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