This guide explains gland enlargement in plain terms. It describes how inherited hormone conditions can cause tissue growth at the top of each kidney and what that means for daily life.
The article covers how the condition presents, how congenital adrenal hyperplasia (CAH) is identified, and how treatment is managed day to day in the UK. It sets clear expectations for assessment, tests and the aims of therapy.
Signs and symptoms vary by age and sex. Some forms are urgent in the newborn period, while others appear later in childhood or adulthood. The guide explains why that happens and what to watch for.
How-to focus: readers will learn to recognise warning signs, seek assessment, understand common tests, and follow treatment goals over time. Key hormones — cortisol, aldosterone and androgens — are linked to symptoms so readers can see the cause behind the changes.
The piece uses a UK healthcare lens, outlining screening, referral pathways and specialist teams. It encourages readers to seek personalised medical advice for individual decisions.
Key Takeaways
- The condition means enlargement of adrenal tissue and often stems from inherited hormone problems.
- Congenital adrenal hyperplasia (CAH) can show at birth or later; prompt assessment is vital in newborns.
- Understanding cortisol, aldosterone and androgens helps link symptoms to hormone imbalance.
- UK care pathways include screening, specialist referrals and community management.
- Recognise warning signs, know common tests, and follow long‑term treatment aims.
Understanding adrenal hyperplasia and congenital adrenal hyperplasia
What this means: when the cortex of the glands above the kidneys grows larger than usual, it is called hyperplasia.
What “hyperplasia” means for the adrenal glands
Hyperplasia is an increase in tissue size after long‑term stimulation of the adrenal cortex. This happens when normal hormone production is disrupted and the gland works harder to compensate.
Why most pages focus on CAH
Congenital adrenal hyperplasia (CAH) refers to inherited conditions present at birth. These are the common reason people search for the term in a development or paediatric context.
How hormone imbalance affects stress response and development
In CAH the body often lacks an enzyme needed to make standard amounts of cortisol. Low cortisol reduces the ability to cope with illness or physical stress and can become life‑threatening without treatment.
At the same time, excess androgen production can cause early male‑typical features or atypical development in girls. Severity varies: some disorders are severe at birth; others appear later.
Reader note: CAH is an umbrella term covering a range of presentations. In the UK many cases are found through newborn screening, but milder forms may present in childhood or adulthood and still need assessment for symptoms and long‑term care.
How the adrenal glands work: cortisol, aldosterone and androgens
The cortex above each kidney releases hormones that affect many visible body functions. These include energy levels, blood pressure stability and changes seen in puberty. Understanding each hormone helps explain common symptoms.
Cortisol and coping with physiological stress
Cortisol helps control blood sugar and supports circulation during stress. It keeps the body able to respond in illness or injury.
When cortisol is low, symptoms often show during infections, vomiting or dehydration. Doctors measure cortisol in blood tests to guide treatment.
Aldosterone, salt balance and blood pressure control
Aldosterone regulates salt and water retention to maintain blood pressure. Low aldosterone can cause low sodium, dehydration and low blood pressure.
Replacement or dose changes are guided by electrolytes and clinical signs in growing children and adults.
Androgens in males and females: what “excess” looks like
Androgen excess can cause early puberty signs, acne, increased hair growth and menstrual changes in females. In boys it may speed growth and puberty onset.
- Glands location: sit above each kidney and form part of the endocrine system.
- Key tests: hormone levels in blood guide dosing and follow-up.
- Why enlargement occurs: the cortex can grow if it is driven to work harder when cortisol pathways are blocked.
| Hormone | Main role | Common clinical sign |
|---|---|---|
| Cortisol | Blood sugar control, stress response | Fatigue during illness, low stress tolerance |
| Aldosterone | Salt retention, blood pressure stability | Low sodium, dizziness, low blood pressure |
| Androgens | Sexual development, growth effects | Early puberty, acne, excess hair |
What causes congenital adrenal hyperplasia (CAH)
Congenital adrenal hyperplasia (CAH) happens when specific steps in cortisol production are blocked by faulty enzymes. This forces the body to push steroid production down other pathways and raises androgen output. Over time the gland enlarges and hormone patterns shift, producing the clinical features clinicians look for.
Enzyme deficiencies that disrupt cortisol synthesis
Enzyme problems prevent normal conversion of precursor molecules into cortisol. When cortisol is low, the pituitary signals the gland to work harder. That stimulation increases tissue growth and diverts precursors into androgen synthesis, causing excess male‑type hormones.
21-hydroxylase deficiency as the most common form
21-hydroxylase deficiency is the commonest cause of CAH. Changes in the CYP21 gene reduce or remove 21‑hydroxylase activity. As a result, both cortisol and aldosterone pathways are impaired while androgens build up.
Autosomal recessive inheritance and what carrier parents need to know
Most cases follow an autosomal recessive pattern. That means both parents carry one altered copy of the relevant gene but are usually well themselves.
- Each pregnancy has a 25% chance of an affected child and a 75% chance the child will not be affected.
- Carriers can have healthy children, yet two carriers can have more than one affected child by chance; each pregnancy is independent.
Why severity varies from mild to life‑threatening
Different gene changes reduce enzyme function by varying amounts. Small reductions cause milder, late‑onset symptoms. Severe loss of enzyme activity can cause early salt loss and life‑threatening illness in newborns.
Next: the causes link directly to the labelled forms of CAH—salt‑wasting, simple‑virilising and non‑classic—which reflect hormone output and clinical risk.
Types of CAH and what they mean day to day
CAH presents as different forms that guide how urgent care and follow‑up should be. Families learn the likely risks, how often blood tests and reviews are needed, and which signs demand rapid action.
Salt‑wasting form and newborn emergencies
Salt‑wasting is the highest‑risk type. It stems from aldosterone deficiency and causes low sodium (hyponatraemia), dehydration and vomiting in early days of life.
Rapid deterioration can follow. Immediate hospital care with fluids and electrolyte correction is essential to prevent life‑threatening collapse.
Simple‑virilising form and overlapping presentations
Simple‑virilising CAH mainly causes excess androgens, producing early puberty signs and atypical genital development. Monitoring focuses on growth, hormones and behaviour.
Presentations can overlap: some cases show mild salt loss while others mainly have androgen effects. Clinicians individualise care rather than rely solely on type labels.
Non‑classic (late onset) form: milder symptoms later
Non‑classic CAH is a milder form that often appears in childhood, the teenage years or adulthood. Typical symptoms include acne, increased hair and menstrual changes rather than newborn crisis.
Day‑to‑day management usually needs less intensive monitoring but still requires hormone checks and tailored treatment when symptoms interfere with wellbeing.
- How “type” guides care: urgency, monitoring frequency and treatment planning.
- Risk for families: some forms need immediate intervention; others permit routine outpatient follow‑up.
| Form | Main hormonal issue | Typical age at presentation | Day‑to‑day implications |
|---|---|---|---|
| Salt‑wasting | Aldosterone deficiency, low sodium | Newborn | Urgent hospital care, frequent monitoring, emergency plan |
| Simple‑virilising | Androgen excess ± mild mineral issues | Infancy to childhood | Growth and puberty monitoring, hormone dose adjustments |
| Non‑classic (late onset) | Milder enzyme loss, androgen excess | Childhood, teens, adulthood | Symptom management, periodic tests, fertility advice |
Next: a practical symptom checklist organised by life stage will explain when to seek urgent care and when routine referral is appropriate.
Signs and symptoms to recognise in babies, children and teens
Recognising early signs helps families and clinicians act quickly. Symptoms differ by age and can be urgent in the newborn period.
Red flags after birth: vomiting, dehydration and low salt
In some newborns, repeated vomiting, poor feeding, lethargy and signs of dehydration can appear within days. These may reflect low sodium and low blood sugar.
If a baby shows these features, urgent assessment at a local emergency department is essential. Early treatment prevents rapid deterioration.
Ambiguous genitalia and sex development differences in newborn girls
Some females are born with virilised or ambiguous genitalia. This is a recognised presentation that requires prompt specialist assessment and sensitive, clear communication with families.
A paediatric endocrine team will guide investigations and give support for sex assignment and immediate care.
Early puberty, rapid growth and acne in boys
Boys may develop early puberty signs such as rapid growth, acne and voice change. Genital changes and advanced bone age can follow.
Early rapid growth may later reduce adult height if untreated, so timely referral is important.
Facial hair, deepened voice and irregular or absent periods in girls
Teenage females can present with increased facial hair, voice deepening and menstrual irregularities. These symptoms often stem from excess androgens rather than lifestyle factors.
Growth patterns: tall in childhood, shorter adult height without treatment
Children may seem tall in childhood but can finish shorter as adults because bone maturation speeds up. Monitoring growth and bone age helps guide treatment.
What to do next: For severe or newborn symptoms seek urgent care. For milder concerns, a GP can arrange timely referral to paediatric endocrinology for tests and management.
| Age group | Key signs | Immediate action |
|---|---|---|
| Newborn | Vomiting, dehydration, poor feeding, lethargy, suspected low salt | Emergency assessment and blood tests; urgent fluids if needed |
| Infancy to childhood | Ambiguous genitalia in females, rapid growth in boys | Referral to paediatric endocrine and surgical teams for assessment |
| Teens | Acne, excess hair, deep voice, irregular periods | GP referral for hormone tests and specialist care |
For more information on hormonal conditions affecting puberty and fertility see hypogonadism services and guidance.
How to get a diagnosis: tests used in the UK
A swift and accurate diagnosis starts with recognising who needs urgent testing and who can wait for outpatient assessment. In the UK this follows a clear pathway from screening or clinical suspicion to specialist confirmation.
Newborn screening and early detection
Newborn screening can pick up many affected babies soon after birth. Early detection matters because it prevents missed salt‑loss crises and prompts rapid treatment when needed.
Blood and urine tests for hormones and electrolytes
Urgent blood tests check electrolytes, glucose and key hormones. These show whether sodium or potassium is low and if cortisol pathways are failing.
Urine testing measures steroid metabolites and helps clarify hormone output. Repeated samples may be needed to guide dosing and monitor response.
Genetic testing and identifying the specific gene change
Genetic testing confirms the diagnosis and identifies the exact gene change or enzyme defect. This information helps predict the likely course and informs family counselling.
Imaging and bone age X‑rays when growth or puberty is affected
X‑rays for bone age assess skeletal maturation if growth or puberty is unusually early or late. Imaging is supportive rather than diagnostic and helps planning treatment.
- Suspicion: screening result or clinical signs in babies or children.
- Urgent blood and urine tests if unwell; stabilise if needed.
- Specialist referral to paediatric endocrinology for confirmation.
- Genetic testing and targeted imaging to identify subtype and plan care.
| Test | Purpose | What it shows |
|---|---|---|
| Blood electrolytes & glucose | Immediate assessment | Salt loss, dehydration, hypoglycaemia |
| Hormone levels (blood) | Assess cortisol/androgen activity | Guide replacement therapy |
| Genetic testing | Confirm subtype | Identifies causative gene change |
What families should expect: diagnosis may need repeat blood tests and specialist review. Results are interpreted by paediatric endocrine teams, who will explain the findings and next steps.
How treatment works: replacing hormones and preventing crises
Effective management combines steady hormone replacement with clear emergency plans. The main goals are to replace missing hormones, prevent adrenal crises, reduce excess androgen effects and support normal growth and development.
Glucocorticoid replacement and what it aims to control
Glucocorticoid (cortisol) replacement is the core therapy in most cases. Clinicians monitor symptoms, growth and blood hormone trends to judge control.
Treatment aims to relieve fatigue, suppress excess androgens and keep stress responses adequate.
Mineralocorticoid replacement and salt supplementation
When aldosterone is low, mineralocorticoid replacement plus extra salt can correct sodium balance and blood pressure. Regular blood tests guide dose adjustments, especially in the salt‑wasting form.
Stabilising a sick newborn and illness dosing
A sick newborn may need rapid assessment, intravenous fluids and urgent correction of electrolyte imbalance. Once stable, replacement therapy begins and repeated blood checks follow.
People who cannot raise cortisol during illness need planned dose increases (“stress dosing”) to avoid life‑threatening deficiency.
Additional support and other interventions
Some children need extra hormone treatment to manage early or delayed puberty. Surgery may be discussed for differences in genital anatomy, but this is separate from replacement and requires multidisciplinary counselling.
For related endocrine guidance see Addison’s disease guidance.
Long-term management and living well with CAH
Long‑term follow‑up keeps people well by catching dose issues, growth changes and illness risks early. Lifelong management involves routine appointments, regular blood tests and clear plans for illness, travel and school.
Why lifelong monitoring matters
Regular blood checks guide steroid dose adjustments during growth spurts, puberty and illness. They reduce the risk of over‑ or under‑treatment.
Stress dosing rules are essential: families and carers must know when to increase medication and when to seek urgent care.
Multidisciplinary care and wider support
Care is usually delivered by specialist centres with endocrinology and urology input. Psychological and nursing support help with wellbeing, body confidence and practical education.
Fertility, pregnancy and delivery
With good control, men usually have normal fertility. Some women may need help to conceive; specialist clinics manage pregnancy and plan delivery, which can include caesarean section.
Growth, outcomes and surgery considerations
Monitoring aims to protect adult height, bone health and reduce long‑term complications from treatment. Decisions about any genitalia surgery are patient‑centred, timed carefully and supported by counselling.
Genetic counselling and family planning
Genetic advice helps families understand carrier status and recurrence risks for future pregnancies. It supports informed choices and prenatal planning where needed.
“Carry a steroid card, share sick‑day plans with schools and ensure emergency contacts are up to date.”
- Routine reviews, clear sick‑day rules and a medical ID help daily life.
- Specialist teams coordinate medicine, surgery decisions and emotional support.
- Genetic counselling informs family planning and future pregnancies.
| Area | Why it matters | Practical step |
|---|---|---|
| Blood monitoring | Adjusts treatment safely | Regular clinic blood tests |
| Multidisciplinary care | Holistic support | Specialist clinic appointments |
| Fertility & pregnancy | Plans safe conception and delivery | Preconception clinic and obstetric input |
Conclusion
Conclusion
This conclusion pulls the main points together: in patient information, the phrase adrenal hyperplasia most often refers to congenital adrenal conditions that form a group of inherited problems affecting hormone production.
CAH (cah) covers several forms. The commonest cause is 21-hydroxylase deficiency, which explains why severity and care needs vary by gene change.
Low cortisol reduces stress resilience, so prompt assessment matters. Severe signs in a newborn or an unwell child need urgent hospital review, while milder features still merit GP referral and specialist follow‑up.
Effective treatment replaces missing hormones, prevents crises and supports normal growth. UK readers should speak to a GP or specialist team, follow screening guidance, and prioritise ongoing monitoring, sick‑day education and coordinated care across endocrine and surgical services.
