Complete Androgen Insensitivity Syndrome

Table of contents:

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

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.

Genes related to Complete Androgen Insensitivity Syndrome

View recommended genes panels

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.

Click here to know more about Mendelian.

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.

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 %

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

Learn more

Sources and references

You can check the following sources for additional information.

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 SPINOCEREBELLAR ATAXIA WITH AXONAL NEUROPATHY TYPE 2 PANCREATITIS, HEREDITARY; PCTT MEGALOBLASTIC ANEMIA 1 JOUBERT SYNDROME WITH JEUNE ASPHYXIATING THORACIC DYSTROPHY