Aromatase Deficiency

Familial gynecomastia, due to increased aromatase activity


Type of disease: Rare conditions

Aromatase deficiency is a rare genetic disorder, where the body does not make enough of an enzyme called aromatase, which is important for making certain hormones in the body. Without aromatase the body has too much testosterone hormones and too little estrogen hormone.

Girls with this condition are born with ambiguous genitalia, which means that their external sex organs don’t look completely female or male. Their ovaries and menstrual cycles do not function normally. They can develop ovarian cysts, which are fluid filled sacs in the ovary. Also, they do not develop secondary sex characteristics such as breasts and experience increased acne and hair growth over the body. Boys with this condition may have small or undescended testes, low sperm count, and/or a low sex drive.

Both boys and girls are often taller than normal due to how their bones grow. Their bones can break easily. They may experience trouble dealing with sugar in the body, which can lead to high blood sugar levels, weight gain, and a fatty liver. During pregnancy mothers can experience some changes due to the increased testosterone in the baby. This includes increased acne and body hair, a deepening of their voice, and enlargement of their clitoris. The changes usually disappear after giving birth.

Diagnosis for girls is usually made at birth based on physical symptoms, hormone levels, and genetic testing. Boys are not usually diagnosed until adulthood when symptoms become more apparent. Hormone levels and genetic testing are used to confirm a diagnosis. Treatment includes surgery for girls to help with the ambiguous genitalia. Girls and boys can also be given medications that contain estrogen and other important hormones to promote healthy bone and sexual growth. Treatment is also available for individuals with blood sugar problems which includes medications and diet changes.

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