Partial 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

Partial androgen insensitivity syndrome (PAIS) is a disorder of sex development (DSD) distinct from complete AIS (CAIS; see this term) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens.

Genes related to Partial Androgen Insensitivity Syndrome

View recommended genes panels

Clinical Features

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

Cryptorchidism
Hypospadias
Osteoporosis
Hypogonadism
Micropenis
Infertility
Decreased testicular size
Gynecomastia
Azoospermia
Clitoral hypertrophy

And another 12 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

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

Partial Androgen Insensitivity Syndrome Is also known as familial incomplete male pseudohermaphroditism, type 1, androgen insensitivity, partial, with or without breast cancer, reifenstein syndrome, partial androgen resistance syndrome, pais.

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.

Partial 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 OMIM Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like RETT SYNDROME, CONGENITAL VARIANT OTOPALATODIGITAL SYNDROME, TYPE I; OPD1 ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY SPINOCEREBELLAR ATAXIA 36; SCA36 MUENKE SYNDROME; MNKES ISOLATED TRIGONOCEPHALY LMNA-RELATED CARDIOCUTANEOUS PROGERIA SYNDROME