Cushing s syndrome in children symptoms causes and modern treatment methods

Cushing’s syndrome in children is a rare condition that affects the body’s hormones and growth, causing symptoms such as rapid weight gain, facial swelling, and problems with growth and bones. Understanding the causes, symptoms, early diagnosis, and treatment is essential for parents to properly monitor their children and reduce complications. In this Dalily Medical article, we will cover everything about Cushing’s syndrome in infants and children, from causes and symptoms to treatment options with medications and surgery, as well as daily care tips—all explained in a simple and easy-to-understand language.

What is Cushing’s Syndrome in Children?
Cushing’s syndrome is a rare hormonal disorder caused by prolonged high levels of cortisol. Although it is more common in adults, children can also be affected. It is sometimes called hypercortisolism.

How can parents help their child cope with the syndrome?
Early treatment is crucial to reduce complications. Working closely with healthcare providers to create a proper care plan helps the child grow healthily and improves self-confidence.

Is the syndrome hereditary?
Most cases are not inherited, but rare cases may result from genetic mutations or hereditary tumors.

Can a child live a normal life after treatment?
Yes, with early treatment and regular follow-up, most children can lead a near-normal life.

Can symptoms return after treatment?
Sometimes, especially if the cause is a tumor that recurs, so ongoing medical monitoring is essential.

Does the syndrome affect the child’s intelligence?
Usually not. Most children have normal cognitive abilities, although chronic fatigue or growth issues may temporarily affect concentration.

Does Cushing’s syndrome affect the heart or blood pressure?
Yes, it can cause high blood pressure or heart problems if not treated promptly.

Do all children require surgery?
No, treatment depends on the cause. Some children need surgery to remove a tumor, while others improve with medications alone.

Can Cushing’s syndrome be prevented?
Not always, but monitoring corticosteroid doses and avoiding excessive use can reduce the risk.

Does the syndrome affect normal growth?
Yes, high cortisol levels can cause short stature, weak muscles, and delayed growth in children.

Can affected children exercise?
Yes, but light activities are recommended to avoid fatigue or injuries to muscles and bones.

Does the syndrome affect the immune system?
Yes, children with Cushing’s syndrome are more prone to infections due to high cortisol levels.

Important follow-up tests after treatment:

Regular cortisol level checks.
Monitoring blood pressure, growth, and height.
Evaluating heart and liver function if medications were used long-term.

Can symptoms appear again after treatment?
In some cases, yes, especially if the original cause was not removed or new tumors develop.

Are there new treatments for Cushing’s syndrome in children?
Yes, recent studies focus on:

New medications to control cortisol levels.
Less invasive and safer surgical techniques.
Improving the quality of life for children after treatment.

Causes of Cushing’s Syndrome in Infants and Children
Cushing’s syndrome occurs due to prolonged high cortisol levels, caused by different factors:

External causes (most common):

Long-term corticosteroid use for asthma, autoimmune diseases, or post-transplant care.
High doses or long-term use can expose the body to excessive cortisol, leading to symptoms.

Internal causes (from the body itself):

Pituitary tumors (Cushing’s disease): Small pituitary tumors secrete excess ACTH, stimulating the adrenal glands to produce too much cortisol.
Adrenal tumors: Benign or malignant tumors cause excessive cortisol secretion.
Ectopic tumors: Rarely, tumors elsewhere in the body (e.g., lungs) secrete ACTH, increasing cortisol levels.

Rare genetic causes:

Certain rare genetic syndromes can disrupt cortisol regulation in children.

Symptoms of Cushing’s Syndrome in Children
The syndrome causes multiple symptoms due to high cortisol, including:

Weight gain, especially in the upper body, face, and neck.
Fat pad on the back of the neck (buffalo hump).
Purple stretch marks on the abdomen.
Slow linear growth.
High blood pressure.
Thin skin that bruises easily.
Darkened skin patches.
Acne.
Skin stretching on the abdomen, chest, thighs, buttocks, and arms.
Weakness, fatigue, and exhaustion.
High blood sugar.
Excess hair growth in girls, menstrual irregularities.
Delayed puberty, possible future infertility.
Muscle weakness, brittle bones.
Sleep disturbances.
High blood calcium with kidney stones.
Mood disorders: anxiety, irritability, or depression.

Complications if left untreated:

Insulin resistance → possible type 2 diabetes.
Persistent high blood pressure.
Delayed puberty and infertility due to hormonal imbalance.
Immune system dysfunction → frequent infections.
Bone fractures from osteoporosis.
Cognitive decline → poor memory and concentration.
Impaired growth and overall development.
High blood lipids and atherosclerosis.
Behavioral disorders such as obsessive-compulsive tendencies.
Personality and self-confidence issues due to physical changes.

Stages of Cushing’s Syndrome in Infants and Children:
Cushing’s syndrome develops gradually and can be divided into three main stages:

Early Stage (Initial Symptoms)

Unexplained weight gain, sometimes despite poor appetite.
Minor facial changes, such as chubby cheeks or “moon face.”
Weak muscles, especially in the limbs, with rapid fatigue.
Sleep disturbances or increased irritability.

Middle Stage (Progressing Symptoms)

Fat accumulation in specific areas: abdomen, neck, and face.
Purple or red stretch marks on the skin, especially on the abdomen and thighs.
Delayed linear growth—child may be shorter than peers.
Recurrent infections such as colds or skin infections.
Thin skin with easy bruising.

Advanced Stage (Chronic Symptoms)

High blood pressure or blood sugar issues, even at a young age.
Osteoporosis with increased fracture risk.
Severe muscle weakness and difficulty moving.
Mood and behavioral problems such as depression or anxiety in older children.
Significant delay in physical and sexual development.

Diagnosing Cushing’s Syndrome in Children

Diagnosis requires a combination of medical examination, medical history, laboratory tests, and imaging studies:

1. Physical Exam and Medical History

The doctor reviews the child’s health history and performs a full physical exam.
Exam includes monitoring weight, height, facial appearance, fat distribution, and muscle strength.

2. Laboratory Tests

Blood test: Measures cortisol levels.
Saliva test: Additional method to measure cortisol.
Urine test: Monitors cortisol levels.
24-hour urine collection: Determines total daily cortisol production.

3. Imaging Tests

CT scan: Detailed images of bones, muscles, organs, and fat.
MRI: Detailed images of internal organs and tissues using magnets and radio waves.

4. Dexamethasone Suppression Test

Shows whether there is excessive cortisol production.
Often one of the first tests to detect Cushing’s syndrome.

Types of Cushing’s Syndrome in Children

1. Endogenous (Internal)

Caused by the body producing excess cortisol.
Includes:
- Pituitary tumor (Cushing’s disease): Most common in children. Small pituitary tumor secretes ACTH → overstimulates adrenal glands to produce cortisol.
- Adrenal tumors: Benign or malignant; adrenal glands produce uncontrolled cortisol.
- Ectopic ACTH tumors: Rare; tumors elsewhere (e.g., lungs) secrete ACTH → increased cortisol.

2. Exogenous (External)

Caused by external sources like corticosteroid medications:
- Pills or injections
- Inhalers (high doses)
- Creams or ointments (overuse)
Most common in children receiving corticosteroids for chronic illnesses like asthma or autoimmune diseases.

Complications if Untreated

Growth and Development Problems

Weight gain without proportional height growth → delayed linear growth.
Osteoporosis → easy fractures.
Muscle weakness and difficulty playing or moving for long periods.

Cardiovascular Issues

Chronic high blood pressure.
Increased risk of heart disease with age.

Metabolic Problems

High blood sugar → risk of type 2 diabetes.
Uneven fat distribution.

Immune System Issues

Weak immunity → frequent infections.
Slow wound healing.

Psychological and Behavioral Issues

Anxiety, irritability, mood swings.
Low self-confidence due to physical changes (weight gain, moon face).
Older children: depression or social withdrawal.

Puberty and Fertility Effects

Girls: irregular or delayed menstruation.
Boys: delayed genital growth or puberty.

Medical Treatment of Cushing’s Syndrome in Children

1. Medications (used when surgery is difficult or cortisol levels are dangerously high):

To reduce cortisol production:

Metyrapone: Reduces cortisol from adrenal glands.
Ketoconazole: Antifungal drug that also lowers cortisol.
Etomidate: Sometimes used in hospital for severe cases to rapidly control cortisol.

To target pituitary tumors:

Pasireotide: Reduces ACTH secretion → lowers cortisol production.
Cabergoline: Occasionally used to further reduce ACTH.

To manage symptoms:

Blood pressure medications if hypertensive.
Insulin or oral diabetes medications for high blood sugar.
Calcium and vitamin D supplements to prevent osteoporosis.

Important Notes:

Medication is usually temporary until the underlying cause is treated surgically.
Close follow-up with a pediatric endocrinologist is essential.
Dosages vary depending on age, weight, and overall health.

Surgical Treatment

Surgery is the primary and most effective treatment in most children, aiming to remove the root cause of high cortisol.

1. Pituitary Tumor Surgery (Transsphenoidal Surgery)

Tumor is removed via the nose using a delicate endoscopic procedure.
Best for small tumors; high success rate.
Goal: stop excess ACTH production.

2. Adrenal Tumor Surgery (Adrenalectomy)

Removes affected adrenal gland, or both if necessary.
Done via laparoscopy or open surgery depending on tumor size.

3. Ectopic Tumor Surgery

Rare cases: tumor elsewhere (lungs, pancreas) produces ACTH.
Solution: remove the primary tumor.

4. Severe Cases

If both adrenal glands are removed, lifelong hormone replacement therapy (cortisol and aldosterone) is needed.

Advantages:

Treats the underlying cause.
Restores normal cortisol levels.
Improves symptoms: weight gain, blood pressure, growth issues.

Risks:

Bleeding or infection (rare).
Temporary or permanent cortisol deficiency post-surgery.
Possible tumor recurrence.

Herbal and Supportive Treatments

Cushing’s is a serious hormonal disorder; primary treatment must be medical.
Herbs can support general health and alleviate mild symptoms, but cannot replace medical treatment.

Helpful Herbs:

Licorice Root: Supports adrenal function ⚠️ Use with caution; may raise blood pressure.
Green Tea: Rich in antioxidants, supports metabolism, may help weight control.
Ashwagandha: Supports adrenal function, reduces stress; must be used in measured doses under supervision.
Mint & Chamomile: Help calm the child and improve sleep.
Turmeric: Anti-inflammatory and immune-boosting.

Daily Care Tips for Children with Cushing’s Syndrome

1. Healthy Nutrition

Meals rich in fresh fruits and vegetables.
Reduce sugar and saturated fats to manage weight.
Ensure adequate calcium and vitamin D for bone health.
Drink enough water daily.

2. Appropriate Physical Activity

Encourage light exercise (walking, age-appropriate play).
Avoid strenuous activity that may cause fractures due to weak bones.
Physical therapy helps strengthen muscles and improve movement.

3. Regular Medical Follow-up

Routine check-ups with pediatric endocrinologist for cortisol monitoring.
Regular blood pressure and glucose checks.
Bone assessments to monitor for osteoporosis or fractures.

4. Daily Care at Home

Maintain consistent sleep schedule for proper rest.
Track weight and note any changes.
Watch for bruising or frequent skin infections.

5. Psychological and Social Support

Explain the condition to the child in an age-appropriate way.
Encourage participation in school and social activities.
Seek mental health support or join support groups if anxiety or depression occurs.