Pseudovaginal Perineoscrotal Hypospadias (PPSH)

Alias:
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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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
--
13
107
94

Medical Symptom

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Gene & Mutation

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Disease Model

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MGI
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Publications
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References Literature

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