Aromatase excess syndrome

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Structure of the aromatase enzyme.

Aromatase Excess Syndrome (AES) is a rare genetic disorder characterized by an overproduction of the enzyme aromatase, which converts androgens into estrogens. This condition leads to elevated levels of estrogen in the body, resulting in various clinical manifestations, particularly affecting sexual development and reproductive function.

Pathophysiology

Aromatase is an enzyme complex that plays a crucial role in the biosynthesis of estrogens from androgens. In individuals with Aromatase Excess Syndrome, there is an overexpression of the aromatase enzyme, often due to genetic mutations or rearrangements in the CYP19A1 gene, which encodes aromatase. This overexpression leads to increased conversion of androgens to estrogens, causing hyperestrogenism.

Clinical Features

The clinical presentation of Aromatase Excess Syndrome varies depending on the age and sex of the individual. Common features include:

In Males

• Gynecomastia: Development of breast tissue in males is a hallmark of the condition.
• Advanced bone age: Due to increased estrogen levels, bone maturation is accelerated, potentially leading to early epiphyseal closure and short stature.
• Decreased libido and infertility: High estrogen levels can impair spermatogenesis and sexual function.

In Females

• Precocious puberty: Girls may experience early onset of secondary sexual characteristics such as breast development and menstruation.
• Irregular menstrual cycles: Hyperestrogenism can lead to menstrual irregularities.

Diagnosis

Diagnosis of Aromatase Excess Syndrome is based on clinical evaluation, hormonal assays showing elevated estrogen levels, and genetic testing to identify mutations or rearrangements in the CYP19A1 gene. Imaging studies may be used to assess bone age and detect gynecomastia.

Management

Management of Aromatase Excess Syndrome involves addressing the symptoms and underlying hormonal imbalance. Treatment options may include:

• Aromatase inhibitors: Medications such as anastrozole or letrozole can be used to reduce estrogen production.
• Surgical intervention: In cases of significant gynecomastia, surgical reduction may be considered.
• Hormonal therapy: In some cases, testosterone replacement therapy may be indicated to counteract the effects of excess estrogen.

Prognosis

The prognosis for individuals with Aromatase Excess Syndrome varies. Early diagnosis and appropriate management can help mitigate some of the complications associated with the condition, such as short stature and infertility.

Related Pages

• Aromatase
• Gynecomastia
• Hyperestrogenism
• CYP19A1