Mild androgen insensitivity syndrome

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Mild androgen insensitivity syndrome
3D model of the androgen receptor
Synonyms MAIS
Pronounce
Specialty Endocrinology, Genetics
Symptoms Gynecomastia, infertility, reduced body hair
Complications N/A
Onset Puberty
Duration Lifelong
Types N/A
Causes Genetic mutation in the androgen receptor gene
Risks
Diagnosis Genetic testing, hormone level testing
Differential diagnosis Partial androgen insensitivity syndrome, complete androgen insensitivity syndrome, 5-alpha-reductase deficiency
Prevention
Treatment Hormone replacement therapy, surgical intervention
Medication
Prognosis Generally good with treatment
Frequency Rare
Deaths


Mild androgen insensitivity syndrome
Histopathology of androgen insensitivity

Mild Androgen Insensitivity Syndrome (MAIS) is a condition that affects the development of the male reproductive system. This condition is a form of Androgen Insensitivity Syndrome (AIS), which is a disorder of sex development. MAIS is caused by mutations in the Androgen Receptor (AR) gene. This gene provides instructions for making a protein that allows cells to respond to androgens, which are hormones that play a key role in male sexual development. Mutations in the AR gene disrupt the normal activity of the androgen receptor, which interferes with the body's response to androgens and can lead to the signs and symptoms of MAIS.

Signs and Symptoms[edit | edit source]

The signs and symptoms of MAIS can vary widely. Some affected individuals have only mild symptoms, while others may have more severe features. Common signs and symptoms include:

Diagnosis[edit | edit source]

Diagnosis of MAIS typically involves a combination of physical examination, medical history, and laboratory tests. Genetic testing can confirm a diagnosis by identifying a mutation in the AR gene.

Treatment[edit | edit source]

Treatment for MAIS is typically focused on managing the symptoms. This can include hormone therapy, surgery to reduce breast size, and fertility treatments.

See Also[edit | edit source]

References[edit | edit source]

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Contributors: Prab R. Tumpati, MD