Complete androgen insensitivity syndrome: Difference between revisions
From WikiMD's Wellness Encyclopedia
CSV import Tag: Replaced |
CSV import |
||
| Line 1: | Line 1: | ||
[[file:Androgen_receptor_3-d_model.jpg|thumb | {{SI}} | ||
{{Infobox medical condition | |||
| name = Complete 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 = CAIS | |||
| pronounce = | |||
| specialty = [[Endocrinology]], [[Genetics]] | |||
| symptoms = [[Female external genitalia]], [[undescended testes]], [[infertility]] | |||
| onset = [[Birth]] | |||
| duration = [[Lifelong]] | |||
| causes = [[Genetic mutation]] in the [[androgen receptor]] gene | |||
| risks = | |||
| diagnosis = [[Genetic testing]], [[hormone level testing]] | |||
| differential = [[Müllerian agenesis]], [[Turner syndrome]], [[5-alpha-reductase deficiency]] | |||
| prevention = | |||
| treatment = [[Hormone replacement therapy]], [[psychological support]] | |||
| medication = | |||
| prognosis = Generally good with appropriate management | |||
| frequency = 1 in 20,000 to 1 in 99,000 [[XY]] births | |||
| deaths = | |||
}} | |||
[[file:Androgen_receptor_3-d_model.jpg|left|thumb]] [[file:Complete_androgen_insensitivity_syndrome.jpg|left|thumb]] [[file:Histopathology_of_androgen_insensitivity.jpg|left|thumb]] [[file:Complete_androgen_insensitivity_presenting_with_inguinal_hernia.jpg|left|thumb]] [[file:Results_of_vaginal_lengthening_by_pressure_dilation_methods.jpg|left|thumb]] '''Complete androgen insensitivity syndrome''' ('''CAIS''') is a condition that results in the complete inability of the body's cells to respond to [[androgens]]. Androgens are a group of hormones that play a role in male traits and reproductive activity. CAIS is one of the three types of [[androgen insensitivity syndrome]] (AIS), which also includes [[partial androgen insensitivity syndrome]] (PAIS) and [[mild androgen insensitivity syndrome]] (MAIS). | |||
== Genetics == | == Genetics == | ||
CAIS is caused by mutations in the [[androgen receptor]] (AR) gene, which is located on the [[X chromosome]]. This gene provides instructions for making a protein that allows the body to respond appropriately to androgens. Mutations in the AR gene prevent the androgen receptor from working properly, which means that cells cannot respond to androgens. As a result, individuals with CAIS have a female external appearance despite having a male (46,XY) [[karyotype]]. | CAIS is caused by mutations in the [[androgen receptor]] (AR) gene, which is located on the [[X chromosome]]. This gene provides instructions for making a protein that allows the body to respond appropriately to androgens. Mutations in the AR gene prevent the androgen receptor from working properly, which means that cells cannot respond to androgens. As a result, individuals with CAIS have a female external appearance despite having a male (46,XY) [[karyotype]]. | ||
== Symptoms and Diagnosis == | == Symptoms and Diagnosis == | ||
Individuals with CAIS typically have: | Individuals with CAIS typically have: | ||
* Female external genitalia | * Female external genitalia | ||
* Absent or rudimentary [[ | * Absent or rudimentary [[Müllerian ducts]] (which develop into the uterus and fallopian tubes in females) | ||
* Undescended testes (which may be located in the abdomen or inguinal canal) | * Undescended testes (which may be located in the abdomen or inguinal canal) | ||
* Little or no pubic and underarm hair | * Little or no pubic and underarm hair | ||
* Normal breast development | * Normal breast development | ||
Diagnosis of CAIS is often made during adolescence when menstruation does not begin (primary [[amenorrhea]]), or earlier if inguinal hernias are found in infants. Diagnostic tests may include: | Diagnosis of CAIS is often made during adolescence when menstruation does not begin (primary [[amenorrhea]]), or earlier if inguinal hernias are found in infants. Diagnostic tests may include: | ||
* [[Karyotype]] analysis to determine the presence of a 46,XY chromosome pattern | * [[Karyotype]] analysis to determine the presence of a 46,XY chromosome pattern | ||
* Hormone tests to measure levels of [[testosterone]], [[luteinizing hormone]] (LH), and [[follicle-stimulating hormone]] (FSH) | * Hormone tests to measure levels of [[testosterone]], [[luteinizing hormone]] (LH), and [[follicle-stimulating hormone]] (FSH) | ||
* Genetic testing to identify mutations in the AR gene | * Genetic testing to identify mutations in the AR gene | ||
== Management == | == Management == | ||
Management of CAIS involves a multidisciplinary approach, including: | Management of CAIS involves a multidisciplinary approach, including: | ||
| Line 22: | Line 40: | ||
* [[Surgery|Surgeons]] to remove undescended testes, which have a risk of becoming cancerous | * [[Surgery|Surgeons]] to remove undescended testes, which have a risk of becoming cancerous | ||
* [[Psychology|Psychologists]] or [[psychiatry|psychiatrists]] to provide support and counseling | * [[Psychology|Psychologists]] or [[psychiatry|psychiatrists]] to provide support and counseling | ||
== Prognosis == | == Prognosis == | ||
Individuals with CAIS typically have a normal lifespan and can lead healthy lives. However, they are infertile due to the absence of functional male or female reproductive organs. | Individuals with CAIS typically have a normal lifespan and can lead healthy lives. However, they are infertile due to the absence of functional male or female reproductive organs. | ||
== See also == | == See also == | ||
* [[Androgen insensitivity syndrome]] | * [[Androgen insensitivity syndrome]] | ||
| Line 32: | Line 48: | ||
* [[Intersex]] | * [[Intersex]] | ||
* [[Endocrinology]] | * [[Endocrinology]] | ||
== References == | == References == | ||
{{Reflist}} | {{Reflist}} | ||
== External links == | == External links == | ||
{{Commons category|Complete androgen insensitivity syndrome}} | {{Commons category|Complete androgen insensitivity syndrome}} | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Endocrinology]] | [[Category:Endocrinology]] | ||
[[Category:Intersex variations]] | [[Category:Intersex variations]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
{{medicine-stub}} | {{medicine-stub}} | ||
Latest revision as of 02:24, 5 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
| Complete androgen insensitivity syndrome | |
|---|---|
| |
| Synonyms | CAIS |
| Pronounce | |
| Specialty | Endocrinology, Genetics |
| Symptoms | Female external genitalia, undescended testes, infertility |
| Complications | N/A |
| Onset | Birth |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutation in the androgen receptor gene |
| Risks | |
| Diagnosis | Genetic testing, hormone level testing |
| Differential diagnosis | Müllerian agenesis, Turner syndrome, 5-alpha-reductase deficiency |
| Prevention | |
| Treatment | Hormone replacement therapy, psychological support |
| Medication | |
| Prognosis | Generally good with appropriate management |
| Frequency | 1 in 20,000 to 1 in 99,000 XY births |
| Deaths | |
Complete androgen insensitivity syndrome (CAIS) is a condition that results in the complete inability of the body's cells to respond to androgens. Androgens are a group of hormones that play a role in male traits and reproductive activity. CAIS is one of the three types of androgen insensitivity syndrome (AIS), which also includes partial androgen insensitivity syndrome (PAIS) and mild androgen insensitivity syndrome (MAIS).
Genetics[edit]
CAIS is caused by mutations in the androgen receptor (AR) gene, which is located on the X chromosome. This gene provides instructions for making a protein that allows the body to respond appropriately to androgens. Mutations in the AR gene prevent the androgen receptor from working properly, which means that cells cannot respond to androgens. As a result, individuals with CAIS have a female external appearance despite having a male (46,XY) karyotype.
Symptoms and Diagnosis[edit]
Individuals with CAIS typically have:
- Female external genitalia
- Absent or rudimentary Müllerian ducts (which develop into the uterus and fallopian tubes in females)
- Undescended testes (which may be located in the abdomen or inguinal canal)
- Little or no pubic and underarm hair
- Normal breast development
Diagnosis of CAIS is often made during adolescence when menstruation does not begin (primary amenorrhea), or earlier if inguinal hernias are found in infants. Diagnostic tests may include:
- Karyotype analysis to determine the presence of a 46,XY chromosome pattern
- Hormone tests to measure levels of testosterone, luteinizing hormone (LH), and follicle-stimulating hormone (FSH)
- Genetic testing to identify mutations in the AR gene
Management[edit]
Management of CAIS involves a multidisciplinary approach, including:
- Endocrinologists to monitor hormone levels and manage hormone replacement therapy if needed
- Surgeons to remove undescended testes, which have a risk of becoming cancerous
- Psychologists or psychiatrists to provide support and counseling
Prognosis[edit]
Individuals with CAIS typically have a normal lifespan and can lead healthy lives. However, they are infertile due to the absence of functional male or female reproductive organs.
See also[edit]
- Androgen insensitivity syndrome
- Partial androgen insensitivity syndrome
- Mild androgen insensitivity syndrome
- Intersex
- Endocrinology
References[edit]
<references group="" responsive="1"></references>
External links[edit]
Wikimedia Commons has media related to
.
