Aromatase deficiency

A rare genetic disorder affecting estrogen synthesis

Aromatase deficiency is a rare genetic disorder characterized by the body's inability to produce sufficient levels of estrogen due to a deficiency in the enzyme aromatase. This enzyme is crucial for the conversion of androgens into estrogens, which are vital hormones for sexual development and reproductive function.

Pathophysiology

Aromatase, also known as estrogen synthetase, is an enzyme complex that catalyzes the conversion of androgens such as testosterone and androstenedione into estrogens like estradiol and estrone. This process is essential for maintaining the balance of sex hormones in both males and females. Aromatase is encoded by the CYP19A1 gene, and mutations in this gene can lead to aromatase deficiency.

In individuals with aromatase deficiency, the lack of estrogen production can lead to a range of developmental and physiological abnormalities. In females, this often results in ambiguous genitalia at birth, delayed puberty, and primary amenorrhea. In males, symptoms may include tall stature due to delayed epiphyseal closure, osteoporosis, and insulin resistance.

Clinical Presentation

The clinical manifestations of aromatase deficiency can vary depending on the sex and age of the individual.

In Females

• Ambiguous genitalia at birth
• Lack of secondary sexual characteristics during puberty
• Primary amenorrhea
• Polycystic ovaries

In Males

• Tall stature and delayed bone age
• Osteoporosis
• Insulin resistance
• Gynecomastia

Diagnosis

Diagnosis of aromatase deficiency is typically based on clinical presentation, hormonal assays, and genetic testing. Hormonal assays may reveal elevated levels of androgens and low levels of estrogens. Genetic testing can confirm mutations in the CYP19A1 gene.

Treatment

Treatment for aromatase deficiency focuses on hormone replacement therapy to compensate for the lack of estrogen. In females, estrogen replacement can help induce secondary sexual characteristics and regulate menstrual cycles. In males, treatment may involve managing symptoms such as osteoporosis and insulin resistance.

Prognosis

With appropriate hormone replacement therapy, individuals with aromatase deficiency can lead relatively normal lives. However, early diagnosis and treatment are crucial to prevent complications such as osteoporosis and metabolic disorders.

Related Pages

• Estrogen
• Androgen
• CYP19A1
• Hormone replacement therapy