What does PAIS mean in SYNDROMES
Primary Androgen Insensitivity Syndrome (PAIS) is an intersex condition, where an individual is born with a male chromosomal makeup, but the body’s tissues are unable to respond to androgens. It is also known as testicular feminization because individuals who suffer from this disorder may appear female on the outside despite having male chromosomes. People with PAIS are typically characterized by having partly or completely undescended testicles, infertility, and varying degrees of ambiguous external genialia at birth.
PAIS meaning in Syndromes in Medical
PAIS mostly used in an acronym Syndromes in Category Medical that means Primary Androgen Insensitivity Syndrome
Shorthand: PAIS,
Full Form: Primary Androgen Insensitivity Syndrome
For more information of "Primary Androgen Insensitivity Syndrome", see the section below.
What Does PAIS Stand For?
The acronym PAIS stands for Primary Androgen Insensitivity Syndrome, a rare genetic disorder that affects sexual development and fertility in males. PAIS results from a defect in the androgen receptor that prevents cells from properly responding to testosterone, leading to incomplete masculinization of the body during fetal development. This condition can range from barely noticeable to severe; those affected may have genitals that are not typically male or female, partial breast development, infertility, or no visible signs at all.
Symptoms
People with PAIS will present with a variety of symptoms depending on how severe their condition is. They may have genitalia which don't fit easily into either the male or female categories- such as small phallus size or an enlarged clitoris- as well as incompletely formed or undescended testicles. Other common manifestations of PAIS include problems with urinary tract function including frequent urinary infections and difficulty emptying the bladder. In addition, some people may experience a lack of pubic and underarm hair which often doesn't develop until puberty even when hormone treatment is given after birth.
Diagnosis
PAIS is usually diagnosed at birth due to obvious physical anomalies such as ambiguous genitalia or hypospadias (a defect of the urethra). Further testing such as karyotyping (chromosome analysis) and imaging techniques like MRI can be used to confirm the diagnosis. Additional tests may be performed if there are developmental issues present such as delayed pubertal changes or learning difficulties.
Treatment
The primary goals of treatment for PAIS are to ensure normal growth and development within gender-appropriate norms without compromising fertility potential when possible. Treatment generally consists of hormone therapy beginning shortly after birth which helps masculinize the body more effectively while minimizing any feminizing effects caused by estrogen levels that remain too high due to inadequate testosterone production in those with PAIS. Surgery may also be necessary in certain cases if there are abnormalities present that require correction.
Essential Questions and Answers on Primary Androgen Insensitivity Syndrome in "MEDICAL»SYNDROMES"
What is Primary Androgen Insensitivity Syndrome (PAIS)?
Primary androgen insensitivity syndrome (PAIS) is an intersex condition in which there is partial or complete inability to respond to the hormones that induce male development. It is caused by mutations in the gene responsible for making the androgen receptor, a protein found on the surface of cells which responds to testosterone and other hormones. As a result, affected individuals have male chromosomes but have either female or ambiguous external genitalia.
What are the signs and symptoms of PAIS?
The signs and symptoms of PAIS vary from person to person, depending on how much of their body is affected by it. In general, individuals may experience abnormal genitalia at birth, including undescended testicles in males or an unusually small clitoris in females. Individuals may also experience underdeveloped secondary sex characteristics during puberty such as breast growth or lack thereof. Furthermore, fertility can be impaired due to inadequate sperm production in males or decreased ovarian function in females.
How is PAIS diagnosed?
PAIS is usually diagnosed at birth when an individual’s genitals appear atypical compared to others of their same sex. Diagnosis typically involves a physical examination as well as genetic testing involving analysis of specific genes associated with the disorder. Additionally, imaging tests such as ultrasound or MRI may be ordered if needed.
How might PAIS be treated?
Treatment for PAIS depends on the degree and type of abnormalities present, as well as the individual's personal goals. In many cases, surgery may be recommended to reconstruct the genitalia so that it more closely resembles that of someone without PAIS. Hormone therapy can also be utilized to supplement hormone production if necessary. Psychological counseling may also be beneficial for affected individuals and their families.
What are medical complications associated with this condition?
Medical complications associated with PAIS include impaired fertility due to insufficient sperm production in males or decreased ovarian function in females; an increased risk for certain types of cancer; urinary tract problems; bone issues; learning disabilities; psychological distress due to gender identity issues; social stigma; hypertension (high blood pressure); and diabetes.
Is there any way to prevent this condition from occurring?
There is no known way to prevent this condition from occurring since it is caused by genetic mutations that occur spontaneously prenatally and not environmental factors or lifestyle choices. However doctors suggest becoming familiar with family histories can help identify any potential risk factors present.
Will having this disorder affect lifespan?
The majority of individuals with primary androgen insensitivity syndrome will lead normal lifespans if they receive appropriate medical care throughout their life. However, life expectancy can vary depending on whether one has severe forms of the disorder or underlying conditions such as cancer which can increase mortality.
Is this condition hereditary?
This condition can sometimes occur sporadically without any relation to family history, but it can also run in families where other members possess similar mutations passed down through generations via autosomal recessive inheritance pattern.
Final Words:
Primary Androgen Insensitivity Syndrome (PAIS), although rare, can affect sexual development and fertility in genetically male individuals resulting from a mutation in the androgen receptor gene that prevents normal response to testosterone during fetal development. Its symptoms vary greatly depending on its severity but often consist of genital ambiguity at birth, problems with urinary tract function, absent underarm hair until puberty, delayed pubertal changes and/or learning difficulties later in life. Treatment options for people affected by this syndrome exist which aim at facilitating normal growth within gender-appropriate norms while preserving fertility potential where feasible through hormone therapy combined with surgery if necessary.
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