Cushing's Disease in Children

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Cushing's disease, also called ACTH-producing pituitary tumor, is a tumor of the pituitary gland. The tumor secretes adrenocorticotrophin hormone (ACTH). This causes the body to produce too much of a hormone called cortisol.

Cortisol helps us fight off injury and illness, and it regulates blood sugar and blood pressure. However, too much cortisol can slow your child’s growth. It can also cause mood changes, interrupt puberty and cause many other symptoms.

The main sign of Cushing’s disease is that a child stops growing vertically but continues to gain weight. Cushing’s disease is extremely rare.

Cushing’s Disease Symptoms

  • Weight gain, particularly in the torso and neck
  • Muscle loss
  • Irregular menstrual periods
  • Unusually early or late onset of puberty
  • Excessive facial hair in girls
  • Thin skin, easy bruising and red stretch marks, usually on the abdomen
  • High blood pressure
  • Sleep disturbances and fatigue
  • Acne
  • Type 2 diabetes
  • Weak bones
  • Extra calcium in the blood
  • Kidney stones

Diagnosing Cushing’s Disease

At UVA, we offer you and your child a multidisciplinary approach involving endocrinologists and neurosurgeons to ensure the correct diagnosis. Cushing’s disease is a difficult disease to confirm and requires two stages of diagnosis. 

Stage 1: Screening for Excess Cortisol Production

Three screening tests can detect abnormal cortisol production by measuring:

  • Elevation in 24 hour urine free cortisol collection
  • Lack of suppression of cortisol at night
  • Lack of suppression of cortisol overnight

Stage 2: Tests to Confirm

  • Measurement of serum ACTH levels
  • CRH (corticotropin-releasing hormone) stimulation test
  • Inferior petrosal sinus sampling (this requires hospitalization)
  • CT or MRI scans

Treating Cushing's Disease at UVA

Removing the Tumor

If your child has Cushing’s disease, surgery to remove the tumor is the best treatment option.

Controlling Cortisol Overproduction

Medication can control adrenal gland cortisol overproduction, but it doesn’t address the source of the problem, the pituitary tumor. We will carefully monitor your child to establish the optimal dose and to determine if it's effective.

Radiation Therapy

If surgery doesn’t work, we can use radiation to return cortisol production to normal and control tumor growth.

Gamma Knife

A single precisely targeted dose of radiation can also shrink the tumor. Find out more about this radiosurgery procedure.