Adrenal Hyperplasia
Enlargement of the adrenal glands affecting hormone output
Quick Facts
- Type: Endocrine (hormone) condition
- Common form: Congenital adrenal hyperplasia (inherited)
- Key hormones: Cortisol, aldosterone, androgens
- Management: Lifelong hormone treatment in many cases
Overview
The adrenal glands sit on top of each kidney and make hormones that control stress response, blood pressure, salt balance, and aspects of sexual development. Adrenal hyperplasia means these glands are enlarged. The most common and important form is congenital adrenal hyperplasia (CAH), an inherited disorder present from birth that disrupts hormone production.
In CAH, an enzyme needed to make cortisol is missing or reduced. The body compensates by overstimulating the adrenal glands, which enlarge and may overproduce other hormones, particularly male-type hormones (androgens). Hyperplasia can also occur in adults from non-inherited causes. Treatment focuses on replacing missing hormones and balancing the others.
Symptoms
Symptoms vary widely depending on the type and severity. The classic, more severe form of CAH often appears in infancy, while milder forms may not be noticed until later childhood or adulthood.
- In newborns: ambiguous or atypical genitalia in girls, salt-wasting crises with vomiting, dehydration, and poor feeding
- Early or unusual signs of puberty in children
- Excess body or facial hair, acne, and irregular periods in women
- Fertility difficulties
- Short final adult height in some cases
A salt-wasting crisis in a newborn or child is a medical emergency, with dangerous drops in blood pressure and salt levels that require immediate treatment.
Causes
The cause depends on the form of the condition.
- Congenital adrenal hyperplasia: Inherited gene changes reduce or block an enzyme (most often 21-hydroxylase) needed to make cortisol. Low cortisol triggers a hormone signal that overstimulates and enlarges the adrenal glands.
- Acquired enlargement: In adults, the glands can enlarge in response to overstimulation from the pituitary gland or from other hormone imbalances.
CAH is passed down in an autosomal recessive pattern, meaning a child must inherit an altered gene from both parents.
Risk Factors
- A family history of congenital adrenal hyperplasia
- Both parents carrying the gene change (for CAH)
- Certain ethnic backgrounds with higher carrier rates
- For acquired forms, underlying disorders of the pituitary or other endocrine glands
- Having a sibling or close relative diagnosed with the condition
Diagnosis
Diagnosis combines hormone testing, newborn screening, and sometimes imaging and genetic tests.
- Newborn screening: Many regions test all newborns for the common form of CAH.
- Blood and urine hormone tests: Measure cortisol, related hormone precursors, and androgens.
- Genetic testing: Confirms the specific gene change and helps with family counseling.
- Imaging: Ultrasound, CT, or MRI may be used to assess gland size and structure.
- Follow-up monitoring: In milder forms diagnosed later, hormone tests over time help confirm the pattern and guide treatment.
Treatment
Treatment aims to replace the hormones the body cannot make in adequate amounts and to control excess androgens.
- Corticosteroid replacement: Daily medication replaces cortisol and lowers the overstimulation that drives gland enlargement.
- Mineralocorticoid replacement: Used in salt-wasting forms to maintain salt and fluid balance.
- Stress dosing: Extra steroid is needed during illness, injury, or surgery to prevent an adrenal crisis.
- Specialist care: Endocrinologists tailor doses over a lifetime, and some children may need surgery for genital differences after careful, individualized discussion.
People with CAH often carry emergency steroid injections and medical identification because of the risk of adrenal crisis. Treatment is balanced carefully: too little steroid allows androgen excess and gland overstimulation, while too much can cause side effects such as weight gain and slowed growth in children. Regular check-ups with measurements of growth, blood pressure, and hormone levels help fine-tune the dose over a lifetime. With good control, many people with CAH have normal growth, puberty, and fertility, though some need additional support to conceive. Education for the person and their family about sick-day rules and recognizing early warning signs is a key part of staying safe.
When to See a Doctor
See a doctor or endocrinologist if you or your child has signs such as early puberty, excess hair growth, irregular periods, or fertility problems, or if there is a family history of CAH. Seek emergency care immediately for signs of an adrenal crisis, including:
- Severe vomiting and dehydration in an infant
- Profound weakness, confusion, or collapse
- Very low blood pressure
- Known CAH during a serious illness or injury without stress-dose steroids
Frequently Asked Questions
Is adrenal hyperplasia inherited?
The most common form, congenital adrenal hyperplasia, is inherited and passed down when a child receives an altered gene from both parents. Some adult forms of gland enlargement are acquired rather than inherited. Genetic counseling can clarify risk for families.
Can adrenal hyperplasia be cured?
There is no cure for congenital adrenal hyperplasia, but it can be managed effectively for life with hormone replacement and specialist care. With proper treatment, most people lead healthy lives. Ongoing monitoring helps balance hormone levels over time.
What is an adrenal crisis?
An adrenal crisis is a life-threatening shortage of cortisol that can cause severe weakness, vomiting, very low blood pressure, and collapse. It can be triggered by illness, injury, or missed medication. It requires immediate emergency treatment with steroids and fluids.
Why do people with CAH need extra steroids when sick?
During illness, injury, or surgery the body normally produces more cortisol to cope with stress. People with CAH cannot do this on their own, so they take higher stress doses temporarily to prevent an adrenal crisis. Your endocrinologist provides a sick-day plan.
How is adrenal hyperplasia diagnosed in babies?
Many newborns are screened for the common form of CAH with a blood test shortly after birth. Diagnosis is confirmed with additional hormone and genetic tests. Early detection allows treatment to start before a dangerous crisis develops.
References
- National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK). Congenital Adrenal Hyperplasia.
- Mayo Clinic. Congenital adrenal hyperplasia.
- MedlinePlus, U.S. National Library of Medicine. Congenital adrenal hyperplasia.