Aromatase excess syndrome is a rare genetic disorder that happens when the enzyme aromatase is made in too large of a quantity. This enzyme is what changes androgens, which are male hormones, into oestrogens (female hormones).
People with aromatase excess syndrome have too much aromatase in their bodies, which makes them have high levels of oestrogen and low levels of androgens.
This can cause a number of symptoms, such as early puberty, weight gain, and bigger breast tissue in men. Some treatments include drugs that stop the body from making aromatase and hormone therapy to get the levels of androgens back to normal.
The mindmap/concept map will also help you in remembering the important concepts of Arakawa's Syndrome II very clearly during exams
Aromatase Excess Syndrome : [MEDNOTES+MINDMAP]
A metabolic disorder characterized by an overproduction of estrogen in females and low levels of testosterone in males, caused by an increased activity of the enzyme aromatase.
- More commonly seen in females
- Prevalence is unknown
- Can occur in any age group
- Can be inherited or acquired
- Symptoms typically begin to appear during puberty
- Can lead to a variety of physical and psychological symptoms, including:
- Excess body fat
- Enlarged breasts
- Irregular menstrual cycles
- Cognitive impairment
- Primary Aromatase Excess Syndrome: caused by a genetic mutation that leads to increased aromatase activity
- Secondary Aromatase Excess Syndrome: caused by an underlying medical condition or medication that increases aromatase activity
- Stage 1: mild symptoms, such as irregular menstrual cycles
- Stage 2: moderate symptoms, such as enlarged breasts and excess body fat
- Stage 3: severe symptoms, such as infertility and cognitive impairment.
- Elevated estrogen levels
- Elevated estradiol levels
- Elevated estrone levels
- Low levels of androgens
- Genetic testing for CYP19A1 mutations
Tests Required :
- Blood tests for hormone levels
- Genetic testing
- Ultrasound or MRI to assess for ovarian or adrenal tumors
Associated with :
- Ovarian or adrenal tumors
- Polycystic ovary syndrome (PCOS)
- Insulin resistance
Similar diseases/syndromes :
- Congenital adrenal hyperplasia (CAH)
- Estrogen-secreting tumors
- Surgery to remove ovarian or adrenal tumors
- Medications to decrease estrogen production (such as anastrozole or letrozole)
- Hormone replacement therapy to increase androgen levels
- Weight loss and exercise to improve insulin resistance and obesity-related symptoms
- Close monitoring of hormone levels and tumors with regular follow-up appointments.