Understanding cushing syndrome in children
Cushing Syndrome (CS), also referred to as hypercortisolism, is a condition where the body produces too much cortisol, a hormone connected to the stress response. This is generally caused by an abnormality in the adrenal or pituitary glands. CS is a rare disease, particularly in children. Only about two to five new cases per million people occur every year and only 10% of the new cases are children.
For prepubescent children, adrenal tumors are a common cause of Cushing Syndrome while in older children, pituitary adenomas are more common. When a child's body has too much cortisol, it can inhibit their ability to respond effectively to stress or illness, can slow their growth, disrupt puberty, and cause obesity, mood changes, and a host of other symptoms.
Causes of Cushing Syndrome
Cushing Syndrome in children can be caused by a variety of factors. Abnormalities in the adrenal glands can cause the gland to produce too much cortisol resulting in hypercortisolism. Abnormalities in the pituitary gland or adrenal tumors may also produce the disorder.
Also, large doses of a glucocorticoid treatment over time can cause the condition. Glucocorticoids such as prednisone, Dexamethasone, or cortisone are often used as treatments for allergic, inflammatory, and autoimmune disorders.
Symptoms of Cushing Syndrome
Symptoms can vary from child to child. One common symptom shared by a lot of children with Cushing Syndrome is an increase in weight gain, particularly in the mid-torso area, accompanied by a decrease in vertical growth rate. Other symptoms may include:
- Reddened cheeks
- Arms and legs are thinner compared to the rest of their body
- Rounded or moon-shaped face
- Hirsutism or excessive hair growth such as downy hair on cheeks, arms and legs, and development of pubic hair at an abnormal age
- Skin conditions such as acne or darkened skin around the neck and armpits
- Purplish-pink stretch marks on abdomen, buttocks, thighs, and arms
- Absent or irregular menstrual periods
- High blood pressure
- Early puberty
- High cholesterol
Other less common symptoms include:
- Bruising easily
- Depression and mood changes
- Weak bones
- Muscle weakness
- Late or delayed puberty
- Sleep disturbances
- Hypercalcemia (too much calcium in the body)
- Kidney stones
Symptoms that present in adults but are less commonly seen in children are disruptions in sleep patterns, muscular weakness, and memory problems.
Diagnosis and Testing of CS
Diagnosis and testing need to be done by a skilled pediatric endocrinologist. The physician may do a variety of tests to determine if the child has Cushing Syndrome.
- Collecting urine over a 24-hour period to measure hormone levels.
- A diurnal cortisol test is given where blood or saliva is taken to measure cortisol levels at night.
- A dexamethasone suppression test where the child is given a synthetic glucocorticoid medication to determine cortisol levels in the blood.A corticotropin-releasing hormone stimulation test is given to determine if the extra cortisol is produced by an adrenal or pituitary tumor.
- Magnetic resonance imaging (MRI) may be done to produce images of organs, soft tissues, ligaments, and muscles.
- Computed tomography (CT) scan may be done to provide cross-sectional images of the body.
Treatment of CS
Treatment of Cushing Syndrome depends on the specific type and cause of cortisol excess. If you think your child might have Cushing Syndrome, a pediatric endocrinologist can evaluate the child and diagnose them accordingly. Treatment is important because excessive cortisol in one's system can lead to obesity, high blood pressure, osteoporosis, diabetes, increased susceptibility to infections, and stunted growth.
Pituitary tumors in children with Cushing Syndrome are typically surgically removed through transsphenoidal surgery, and medications are administered to block or control the production of cortisol. Radiation therapy is occasionally used if a surgery has failed or if a child is not a good candidate for surgical removal. Adrenal tumors are also treated surgically.
What Happens After My Child is Treated for CS?
- Studies indicate that a majority of children lost the weight they gained and regain height and growth velocity one year after treatment. However, most children lose an inch or two off their final adult height.
- Removal of pituitary adenomas can result in permanent or temporary dysfunction of the pituitary gland, so it's important that a child is monitored by a pediatric endocrinologist on a regular basis. The endocrinologist will screen for any growth hormone or adrenal insufficiencies, hypothyroidism, or pubertal delays.
- Children who undergo a bilateral adrenalectomy (removal of adrenal tumors in both glands) recover at a similar rate to someone undergoing abdominal surgery. However, because both adrenal glands are removed, the child must receive daily hormone replacement for the rest of their life. In addition, hydrocortisone doses need to be adjusted during times of illness and stress.
- Children that only have one adrenal removed or have surgically resected pituitary tumors will take hydrocortisone daily but only until the HPA axis (a set of signals between the hypothalamus, pituitary gland, and adrenals) recovers.
- Children and adolescents are generally able to resume physical activity within several weeks but it may sometimes take several months. Cognitive impairment may also occur as a result of CS and their brains will have to undergo a period of readjustment. During this time, the child may experience problems with memory and concentration that can affect academic performance.
While Cushing Syndrome in children may be a challenging disorder to treat, working with a skilled pediatric endocrinologist can help children overcome CS and get the proper treatment.