Complete Androgen Insensitivity Syndrome

Description

Complete androgen insensitivity syndrome (CAIS) is a form of androgen insensitivity syndrome (AIS; see this term), a disorder of sex development (DSD), characterized by the presence of female external genitalia in a 46,XY individual with normal testis development but undescended testes and unresponsiveness to age-appropriate levels of androgens.

Clinical Features

Top most frequent phenotypes and symptoms related to Complete Androgen Insensitivity Syndrome

  • Cryptorchidism
  • Tremor
  • Inguinal hernia
  • Osteoporosis
  • Infertility
  • Sensory neuropathy
  • Muscle cramps
  • Primary amenorrhea
  • Nephrolithiasis
  • Gynecomastia

And another 6 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available COMPLETE ANDROGEN INSENSITIVITY SYNDROME have a estimated prevalence of 0.83 per 100k in Europe.
No data available about the known clinical features onset.

Alternative names

Complete Androgen Insensitivity Syndrome Is also known as cais, complete androgen resistance syndrome.

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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Complete Androgen Insensitivity Syndrome 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.

ORPHANET Genetic Syndrome Finder

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