Partial androgen insensitivity syndrome

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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

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

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

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 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

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
• Complete androgen insensitivity syndrome
• Mild androgen insensitivity syndrome
• Androgen receptor
• X-linked recessive inheritance
• Hypospadias
• Micropenis
• Gynecomastia

See Also

• Endocrinology
• Genetics
• Hormone replacement therapy