Penoscrotal Transposition

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).

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.


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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 %

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like TUMOR PREDISPOSITION SYNDROME; TPDS WARSAW BREAKAGE SYNDROME; WABS ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 3; HIGM3 DEAFNESS, X-LINKED 2; DFNX2 ERYTHROLEUKEMIA, FAMILIAL CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V; CMT2V

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