Cushing Syndrome in Children

Overview

Cushing syndrome is a rare but serious condition in children caused by prolonged exposure to high levels of the hormone cortisol. Cortisol is often called the “stress hormone” because it helps the body respond to stress, regulates metabolism, and controls blood sugar levels. However, when the body produces too much cortisol or when a child is exposed to high levels of cortisol for a long time, it can lead to Cushing syndrome. This condition can cause a range of health problems, affecting a child’s growth, weight, mood, and overall health.

Symptoms

The symptoms of Cushing syndrome in children can vary widely but often include:

Signs of Cushing Syndrome in Infants

  • Age: 
    • Signs can appear in infants younger than 1-year-old.
  • Severity: 
    • The condition tends to be more severe in infants compared to older children.
  • Facial Appearance: 
    • Infants often have a round face with prominent cheeks and a flushed look, known as “moon facies.”
  • Obesity: 
    • Generalized obesity is common in younger children with Cushing syndrome.
  • Masculinization Signs (in children with adrenal tumors):
    • Excess hair growth on the face and body (hirsutism)
    • Early appearance of pubic hair
    • Acne
    • Deepening of the voice
    • Enlargement of the clitoris in girls
  • Growth Issues: 
    • Growth is usually impaired, with height falling below normal levels unless there is significant masculinization, which may cause normal or even rapid growth.
  • Hypertension: 
    • High blood pressure is common and can sometimes lead to heart failure.
  • Increased Infection Risk: 
    • There is a higher risk of infections, which can lead to serious conditions like sepsis.

Signs of Cushing Syndrome in Older Children

  • Obesity: 
    • In addition to obesity, short stature is a common sign in older children.
  • Growth Issues: 
    • A gradual increase in weight and slowing or stopping of growth may be early signs.
  • Fat Distribution: 
    • Older children often have more severe obesity in the face and trunk, with thinner arms and legs.
  • Skin Changes: 
    • Purplish stretch marks (striae) often appear on the hips, abdomen, and thighs.
  • Puberty Delays: `
    • Pubertal development may be delayed, or girls may stop having periods if they have already started (amenorrhea).
  • Other Symptoms:
    • Weakness
    • Headaches
    • Emotional instability
  • Health Complications:
    • High blood pressure (hypertension)
    • High blood sugar (hyperglycemia), which can develop into diabetes
    • Bone thinning (osteoporosis), which may lead to fractures

Causes

Cushing syndrome in children can be caused by several factors:

  • The most common cause of Cushing syndrome is taking glucocorticoid hormones for a long time, especially in high doses used to treat certain blood-related diseases.
  • In infants, Cushing syndrome is often caused by a type of adrenal tumor.
  • In children over 7 years old, Cushing disease is the most common cause. 
    • This occurs when a small tumor in the pituitary gland produces too much ACTH, leading to enlarged adrenal glands.
  • Genetic Causes and Syndromes
    • Familial Pituitary Adenoma Syndrome: A rare genetic condition where tumors in the pituitary gland run in families
    • MEN1 Syndrome: Another genetic condition where mutations in the MEN1 gene can lead to pituitary tumors
  • Rare in children, but Cushing syndrome can be caused by tumors outside the pituitary gland, like those in the pancreas or thymus
  • Adrenal Gland Disorders
    • Primary Pigmented Nodular Adrenocortical Disease (PPNAD): A rare condition causing small, dark nodules in the adrenal glands, leading to Cushing syndrome 
    • Carney Complex: A genetic disorder that includes PPNAD and other symptoms like skin spots, heart tumors, and glandular tumors. It is inherited in an autosomal dominant pattern.
  • McCune-Albright Syndrome
    • This syndrome, caused by a genetic mutation, can lead to Cushing syndrome in infancy or childhood due to adrenal gland issues.

Diagnosis

Diagnosing Cushing syndrome in children requires a thorough evaluation by a healthcare professional. The process typically includes:

  • Medical History and Physical Examination: 
    • The doctor will start by reviewing the child’s medical history and conducting a physical examination to check for common signs of Cushing syndrome, such as weight gain, growth issues, and skin changes.
  • Laboratory Tests: 
    • Blood and urine tests are often performed to measure cortisol levels. A 24-hour urinary free cortisol test is one common method, where cortisol levels are measured in urine collected over 24 hours. 
    • Another test is the dexamethasone suppression test, where a child takes a synthetic steroid (dexamethasone) test helps confirm the diagnosis of Cushing syndrome
  • Imaging Studies: If test results indicate high cortisol levels, imaging studies such as MRI or CT scans may be conducted to identify any tumors in the pituitary gland, adrenal glands, or other parts of the body.
  • Specialist Consultation: A pediatric endocrinologist, a doctor who specializes in hormone-related disorders in children, may be involved in the diagnosis and treatment planning.

Treatment Options

Treating Cushing syndrome in children depends on the underlying cause. Gertrude’s Children’s Hospital offers a range of treatment options, including:

  • Medication: 
    • If Cushing syndrome is caused by the use of corticosteroids, the doctor may adjust the dosage or switch to a different medication to reduce cortisol levels. In some cases, medications that block cortisol production may be prescribed.
  • Surgery: 
    • If a tumor is causing excess cortisol production, surgery may be necessary to remove the tumor. Our pediatric surgeons are skilled in minimally invasive techniques that reduce recovery time and minimize scarring.
  • Radiation Therapy: 
    • If surgery is not possible or if the entire tumor cannot be removed, radiation therapy may be used to target and destroy the remaining tumor cells.
  • Hormone Replacement Therapy: 
    • After surgery or radiation therapy, the adrenal glands may not produce enough cortisol. In such cases, hormone replacement therapy may be needed to maintain the right balance of hormones in the body.
  • Comprehensive Care: 
    • At Gertrude’s Children’s Hospital, we offer a multidisciplinary approach to care, involving pediatric endocrinologists, surgeons, radiologists, and other specialists to ensure that your child receives the best possible treatment.

Patient Success Stories

At Gertrude’s Children’s Hospital, we are committed to providing the best possible care for children with Cushing Syndrome. Here’s why families trust us:

“When our teenager was diagnosed with Waldenström's, we were shocked and scared. The team at Gertrude's Children's Hospital guided us through every step of the treatment process. Their expertise and compassionate care have given our child a chance at a healthy future.”

Davidfather of a Cushing Syndrome patient

Cushing Syndrome in Children

Cushing syndrome can be caused by the body's overproduction of cortisol, often due to a tumor in the pituitary gland, adrenal glands, or other parts of the body. It can also result from long-term use of corticosteroid medications.

Diagnosis involves a combination of physical exams, laboratory tests to measure cortisol levels, and imaging studies like MRI or CT scans to identify any tumors.

Treatment options include adjusting or discontinuing corticosteroid medications, surgery to remove tumors, radiation therapy, and hormone replacement therapy. The approach depends on the underlying cause of the syndrome.

Yes, with appropriate treatment, many children with Cushing syndrome can recover fully and lead healthy lives. Early diagnosis and treatment are key to achieving the best outcomes.

Supporting your child through Cushing syndrome involves staying informed about the condition, following the treatment plan, and ensuring your child attends all medical appointments. Emotional support and encouragement are also crucial as your child navigates this challenging time.

In some cases, Cushing syndrome can recur, especially if the underlying cause is not fully resolved. Regular follow-up appointments with your child's healthcare provider are essential to monitor for any signs of recurrence.

Contact Us

If you suspect that your child may have Cushing syndrome or if they have been diagnosed and you are seeking the best possible care, don’t hesitate to contact Gertrude’s Children’s Hospital. Our team of experts is here to provide the support and treatment your child needs to thrive.

Contact us today to schedule an appointment or learn more about our Cushing Syndrome treatment program:

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