Breast aplasia

Breast aplasia is a rare medical condition characterized by the absence of one or both breasts at birth. This condition is also known as amastia. It is distinct from breast hypoplasia, which refers to underdeveloped breasts, and athelia, which is the absence of the nipple.

Etiology

The exact cause of breast aplasia is unknown. However, it is believed to be associated with genetic factors. Some cases have been linked to mutations in the TBX3 gene, which is involved in the development of the mammary glands. Other potential causes include prenatal exposure to certain drugs or toxins, or a disruption in blood flow to the developing breast tissue during fetal development.

Diagnosis

Diagnosis of breast aplasia is typically made at birth, based on the physical absence of breast tissue. In some cases, the condition may not be noticed until puberty, when the expected breast development does not occur. Diagnostic tests may include a physical examination, genetic testing, and imaging studies such as ultrasound or magnetic resonance imaging (MRI) to confirm the absence of breast tissue.

Treatment

Treatment for breast aplasia is primarily cosmetic and aims to create a normal breast appearance. This typically involves breast reconstruction surgery, which may include the use of breast implants or autologous tissue transfer. In some cases, nipple and areola reconstruction may also be performed. Psychological support and counseling may also be beneficial for individuals with this condition.

See also

• Breast hypoplasia
• Athelia
• Breast reconstruction