Mild androgen insensitivity syndrome

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Mild androgen insensitivity syndrome
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 (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

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:

• Gynecomastia (enlarged breast tissue in males)
• Infertility
• Testicular atrophy (shrinkage of the testicles)

Diagnosis

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

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

• Androgen Insensitivity Syndrome
• Androgen Receptor
• Gynecomastia
• Infertility
• Testicular atrophy

References

• Androgen Insensitivity Syndrome
• Androgen Receptor
• Gynecomastia
• Infertility
• Testicular atrophy