Penoscrotal Transposition

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

Penoscrotal transposition (PST) is a rare congenital genital anomaly in which the scrotum is positioned superior and anterior to the penis. PST may present with a broad spectrum of anomalies ranging from simple shawl scrotum (doughnut scrotum) to very complex extreme transposition with craniofacial, central nervous system, cardiac, gastrointestinal, urological, and other genital (undescended testicles, hypospadias, chordee) malformations. Growth deficiency and intellectual disability may also be noticed (60% of cases).

Genes related to Penoscrotal Transposition

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Clinical Features

Top most frequent phenotypes and symptoms related to Penoscrotal Transposition

Intellectual disability
Neoplasm
Micrognathia
Cryptorchidism
Epicanthus
Cardiomyopathy
Hernia
Obesity
Hypospadias
Inguinal hernia

And another 40 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Alternative names

Penoscrotal Transposition Is also known as dihydrotestosterone receptor deficiency, testicular feminization syndrome, androgen receptor deficiency, dhtr deficiency, ar deficiency, tfm.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Penoscrotal Transposition Recommended genes panels

Panel Name, Specifity and genes Tested/covered
AR Sequence Analysis. By Baylor Miraca Genetics Laboratories (United States). AR Specificity 100 % Genes 100 %
AR Sequence Analysis (Familial Mutation/Variant Analysis). By Baylor Miraca Genetics Laboratories (United States). AR Specificity 100 % Genes 100 %
AR Sequence Analysis (Prenatal Diagnosis). By Baylor Miraca Genetics Laboratories (United States). AR Specificity 100 % Genes 100 %
Kennedy's Disease (SBMA) DNA Test. By Athena Diagnostics Inc (United States). AR Specificity 100 % Genes 100 %
X-Inactivation Studies. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). AR Specificity 100 % Genes 100 %
Kennedy disease. By Center for Human Genetics, Inc (United States). AR Specificity 100 % Genes 100 %
Androgen Insensitiviy. By Clinical Molecular Genetics Laboratory Johns Hopkins All Children's Hospital (United States). AR Specificity 100 % Genes 100 %
Kennedy's Syndrome PCR. By Molecular Pathology Laboratory University of Pennsylvania Health System (United States). AR Specificity 100 % Genes 100 %

You can get up to 92 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Genetic Syndrome Finder

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