Partial androgen insensitivity syndrome: Difference between revisions
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[[File:Androgen_receptor_3-d_model.jpg|Androgen receptor | {{SI}} | ||
{{Infobox medical condition | |||
| name = Partial androgen insensitivity syndrome | |||
| image = [[File:Androgen_receptor_3-d_model.jpg|alt=3D model of the androgen receptor]] | |||
| caption = 3D model of the androgen receptor | |||
| synonyms = PAIS | |||
| pronounce = | |||
| specialty = [[Endocrinology]], [[Genetics]] | |||
| symptoms = Varying degrees of undervirilization, ambiguous genitalia | |||
| onset = Birth | |||
| duration = Lifelong | |||
| causes = Mutations in the [[Androgen receptor|AR gene]] | |||
| risks = | |||
| diagnosis = [[Genetic testing]], [[Hormone level testing]] | |||
| differential = [[Complete androgen insensitivity syndrome]], [[5-alpha-reductase deficiency]] | |||
| prevention = | |||
| treatment = [[Hormone replacement therapy]], [[Surgery]] | |||
| medication = | |||
| prognosis = Variable, depending on severity | |||
| frequency = Rare | |||
| deaths = | |||
}} | |||
'''Partial androgen insensitivity syndrome''' ('''PAIS''') is a condition that results in the partial inability of the body to respond to androgens, the hormones responsible for male sexual development. This condition is a type of [[androgen insensitivity syndrome]] (AIS), which also includes [[complete androgen insensitivity syndrome]] (CAIS) and [[mild androgen insensitivity syndrome]] (MAIS). | |||
== Genetics == | == Genetics == | ||
PAIS is caused by mutations in the [[androgen receptor]] (AR) gene located on the [[X chromosome]]. These mutations impair the function of the androgen receptor, leading to a reduced response to androgens. Since the AR gene is located on the X chromosome, PAIS follows an [[X-linked recessive inheritance]] pattern. This means that males (who have one X and one Y chromosome) are typically more severely affected than females (who have two X chromosomes). | PAIS is caused by mutations in the [[androgen receptor]] (AR) gene located on the [[X chromosome]]. These mutations impair the function of the androgen receptor, leading to a reduced response to androgens. Since the AR gene is located on the X chromosome, PAIS follows an [[X-linked recessive inheritance]] pattern. This means that males (who have one X and one Y chromosome) are typically more severely affected than females (who have two X chromosomes). | ||
== Clinical Features == | == Clinical Features == | ||
Individuals with PAIS can present with a wide range of phenotypes, from predominantly female external genitalia to predominantly male external genitalia with minor abnormalities. Common features include: | Individuals with PAIS can present with a wide range of phenotypes, from predominantly female external genitalia to predominantly male external genitalia with minor abnormalities. Common features include: | ||
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* Gynecomastia | * Gynecomastia | ||
* Reduced secondary sexual characteristics | * Reduced secondary sexual characteristics | ||
== Diagnosis == | == Diagnosis == | ||
Diagnosis of PAIS involves a combination of clinical evaluation, hormonal assays, and genetic testing. Elevated levels of [[luteinizing hormone]] (LH) and [[testosterone]] may be observed, along with a mutation in the AR gene confirmed through genetic testing. | Diagnosis of PAIS involves a combination of clinical evaluation, hormonal assays, and genetic testing. Elevated levels of [[luteinizing hormone]] (LH) and [[testosterone]] may be observed, along with a mutation in the AR gene confirmed through genetic testing. | ||
== Management == | == Management == | ||
Management of PAIS is multidisciplinary, involving endocrinologists, geneticists, urologists, and psychologists. Treatment options may include hormone replacement therapy, surgical correction of genital abnormalities, and psychological support. The approach is individualized based on the severity of the condition and the needs of the patient. | Management of PAIS is multidisciplinary, involving endocrinologists, geneticists, urologists, and psychologists. Treatment options may include hormone replacement therapy, surgical correction of genital abnormalities, and psychological support. The approach is individualized based on the severity of the condition and the needs of the patient. | ||
== Prognosis == | == Prognosis == | ||
The prognosis for individuals with PAIS varies depending on the severity of the condition and the effectiveness of the management strategies employed. With appropriate medical and psychological support, individuals with PAIS can lead healthy and fulfilling lives. | The prognosis for individuals with PAIS varies depending on the severity of the condition and the effectiveness of the management strategies employed. With appropriate medical and psychological support, individuals with PAIS can lead healthy and fulfilling lives. | ||
== See also == | |||
== | |||
* [[Androgen insensitivity syndrome]] | * [[Androgen insensitivity syndrome]] | ||
* [[Complete androgen insensitivity syndrome]] | * [[Complete androgen insensitivity syndrome]] | ||
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* [[Micropenis]] | * [[Micropenis]] | ||
* [[Gynecomastia]] | * [[Gynecomastia]] | ||
== See Also == | == See Also == | ||
* [[Endocrinology]] | * [[Endocrinology]] | ||
* [[Genetics]] | * [[Genetics]] | ||
* [[Hormone replacement therapy]] | * [[Hormone replacement therapy]] | ||
{{Endocrinology}} | {{Endocrinology}} | ||
{{Genetics}} | {{Genetics}} | ||
{{medicine-stub}} | {{medicine-stub}} | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Endocrine diseases]] | [[Category:Endocrine diseases]] | ||
[[Category:Intersex variations]] | [[Category:Intersex variations]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
Latest revision as of 15:38, 8 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC
| Partial androgen insensitivity syndrome | |
|---|---|
| |
| Synonyms | PAIS |
| Pronounce | |
| Specialty | Endocrinology, Genetics |
| Symptoms | Varying degrees of undervirilization, ambiguous genitalia |
| Complications | N/A |
| Onset | Birth |
| Duration | Lifelong |
| Types | N/A |
| Causes | Mutations in the AR gene |
| Risks | |
| Diagnosis | Genetic testing, Hormone level testing |
| Differential diagnosis | Complete androgen insensitivity syndrome, 5-alpha-reductase deficiency |
| Prevention | |
| Treatment | Hormone replacement therapy, Surgery |
| Medication | |
| Prognosis | Variable, depending on severity |
| Frequency | Rare |
| Deaths | |
Partial androgen insensitivity syndrome (PAIS) is a condition that results in the partial inability of the body to respond to androgens, the hormones responsible for male sexual development. This condition is a type of androgen insensitivity syndrome (AIS), which also includes complete androgen insensitivity syndrome (CAIS) and mild androgen insensitivity syndrome (MAIS).
Genetics[edit]
PAIS is caused by mutations in the androgen receptor (AR) gene located on the X chromosome. These mutations impair the function of the androgen receptor, leading to a reduced response to androgens. Since the AR gene is located on the X chromosome, PAIS follows an X-linked recessive inheritance pattern. This means that males (who have one X and one Y chromosome) are typically more severely affected than females (who have two X chromosomes).
Clinical Features[edit]
Individuals with PAIS can present with a wide range of phenotypes, from predominantly female external genitalia to predominantly male external genitalia with minor abnormalities. Common features include:
- Ambiguous genitalia
- Hypospadias
- Micropenis
- Gynecomastia
- Reduced secondary sexual characteristics
Diagnosis[edit]
Diagnosis of PAIS involves a combination of clinical evaluation, hormonal assays, and genetic testing. Elevated levels of luteinizing hormone (LH) and testosterone may be observed, along with a mutation in the AR gene confirmed through genetic testing.
Management[edit]
Management of PAIS is multidisciplinary, involving endocrinologists, geneticists, urologists, and psychologists. Treatment options may include hormone replacement therapy, surgical correction of genital abnormalities, and psychological support. The approach is individualized based on the severity of the condition and the needs of the patient.
Prognosis[edit]
The prognosis for individuals with PAIS varies depending on the severity of the condition and the effectiveness of the management strategies employed. With appropriate medical and psychological support, individuals with PAIS can lead healthy and fulfilling lives.
See also[edit]
- Androgen insensitivity syndrome
- Complete androgen insensitivity syndrome
- Mild androgen insensitivity syndrome
- Androgen receptor
- X-linked recessive inheritance
- Hypospadias
- Micropenis
- Gynecomastia
See Also[edit]
| Physiology of the endocrine system | ||||||||
|---|---|---|---|---|---|---|---|---|
|
| Genetics | ||||||||||
|---|---|---|---|---|---|---|---|---|---|---|
* Category
|
