Aromatase excess syndrome

Aromatase Excess Syndrome
Synonyms	N/A
Pronounce	N/A
Specialty	N/A
Symptoms	Gynecomastia, Precocious puberty, Feminization
Complications	Infertility, Psychosocial issues
Onset	Childhood or Adolescence
Duration	Lifelong
Types	N/A
Causes	Genetic mutation
Risks	N/A
Diagnosis	Clinical evaluation, Genetic testing
Differential diagnosis	N/A
Prevention	N/A
Treatment	Medications, Surgery
Medication	N/A
Prognosis	N/A
Frequency	Rare disease
Deaths	N/A

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.

Signs and Symptoms

Individuals with Aromatase Excess Syndrome may present with:

• Gynecomastia: Development of breast tissue in males.
• Precocious puberty: Early onset of puberty in both males and females.
• Feminization: Development of female secondary sexual characteristics in males.
• Infertility: Due to hormonal imbalances affecting reproductive function.
• Psychosocial issues: Challenges related to gender identity and social interactions.

Causes

Aromatase Excess Syndrome is caused by genetic mutations that lead to increased activity of the CYP19A1 gene, which encodes the aromatase enzyme. These mutations can be inherited in an autosomal dominant pattern.

Diagnosis

Diagnosis of Aromatase Excess Syndrome involves:

• Clinical evaluation: Assessment of physical symptoms and medical history.
• Genetic testing: Identification of mutations in the CYP19A1 gene.
• Hormonal assays: Measurement of estrogen and androgen levels in the blood.

Treatment

Management of Aromatase Excess Syndrome may include:

• Medications: Use of aromatase inhibitors to reduce estrogen production.
• Surgery: In cases of significant gynecomastia, surgical intervention may be considered.
• Psychological support: Counseling to address psychosocial issues.

See Also

• Aromatase deficiency
• Endocrine disorders
• Genetic disorders

External Links

• Aromatase Excess Syndrome on Orphanet
• Aromatase Excess Syndrome on NIH Rare Diseases