Androgen receptor deficiency

= = Androgen Receptor Deficiency == Androgen Receptor Deficiency (ARD) is a rare genetic disorder that affects the body's ability to respond to androgens, which are male sex hormones such as testosterone. This condition can lead to a range of developmental and physiological issues, particularly affecting sexual development and function.

Pathophysiology

The condition is caused by mutations in the Androgen Receptor (AR) gene, which is located on the X chromosome. The AR gene provides instructions for making a protein called the androgen receptor. This receptor allows the body to respond appropriately to androgens. Mutations in the AR gene can impair the function of the androgen receptor, leading to partial or complete androgen insensitivity.

Clinical Presentation

Individuals with Androgen Receptor Deficiency may present with a spectrum of symptoms depending on the severity of the receptor dysfunction. These can range from mild to severe and include:

• Complete Androgen Insensitivity Syndrome (CAIS): Individuals with CAIS have a typical female external genitalia despite having a 46,XY karyotype. They do not develop male secondary sexual characteristics and are usually raised as females.
• Partial Androgen Insensitivity Syndrome (PAIS): Individuals with PAIS may have ambiguous genitalia and a mix of male and female physical traits. The degree of genital ambiguity can vary widely.
• Mild Androgen Insensitivity Syndrome (MAIS): Individuals with MAIS may have normal male genitalia but may experience infertility or reduced secondary male characteristics.

Diagnosis

Diagnosis of Androgen Receptor Deficiency typically involves a combination of clinical evaluation, hormone testing, and genetic testing. Hormone tests may reveal elevated levels of testosterone and luteinizing hormone (LH), while genetic testing can identify mutations in the AR gene.

Management

Management of ARD is tailored to the individual's symptoms and may involve:

• Hormone Replacement Therapy: For individuals with CAIS or PAIS, estrogen replacement therapy may be used to promote the development of female secondary sexual characteristics.
• Surgical Interventions: Surgery may be considered to address ambiguous genitalia or to remove undescended testes, which have a risk of malignancy.
• Psychological Support: Counseling and support groups can be beneficial for individuals and families to cope with the psychosocial aspects of the condition.

Prognosis

The prognosis for individuals with Androgen Receptor Deficiency varies depending on the severity of the condition and the effectiveness of management strategies. With appropriate treatment and support, individuals can lead healthy lives.

Research and Future Directions

Ongoing research is focused on better understanding the genetic and molecular mechanisms of ARD, as well as developing targeted therapies to improve outcomes for affected individuals.

See Also

• Androgen Insensitivity Syndrome
• Genetic Disorders
• Hormone Replacement Therapy

External Links

• Genetic and Rare Diseases Information Center (GARD)
• National Organization for Rare Disorders (NORD)

NIH genetic and rare disease info

• NIH info on Androgen receptor deficiency

Androgen receptor deficiency is a rare disease.