How Pediatric Growth Hormone Deficiency Is Diagnosed

Pediatric growth hormone deficiency occurs when the pituitary gland does not make enough of the growth hormone that is responsible for a child’s growth. If the pituitary gland is malformed or damaged, it may be unable to produce growth hormone. The hypothalamus is attached to the pituitary gland and regulates its function. Therefore, issues with the hypothalamus can result in growth hormone deficiency as well.  

Growth hormone helps a child’s body grow and mature. The condition is usually diagnosed once a child’s growth stops or is significantly slow. Because there are several reasons why a child may be short for their age, an accurate diagnosis can take time. There is no one test that can diagnose pediatric growth hormone deficiency, so diagnosis usually requires a combination of physical exams, X-rays, and lab tests.

Self-Checks and At-Home Testing

There are no reliable self-checks or at-home tests for diagnosing pediatric growth hormone deficiency. Only a pediatric endocrinologist can make that diagnosis. However, knowing the signs of pediatric growth hormone deficiency could help you recognize when you should talk to your child’s pediatrician.  

The most common sign of pediatric growth hormone deficiency is short stature. You may notice that your child is shorter than all of their peers. If your child fails to grow out of their clothes, it could be a sign that they have stopped growing.

Average “normal” growth in a child’s height is often described as:

• 0-12 months: About 10 inches a year
• 1-2 years: About 5 inches a year
• 2-3 years: About 3 and a half inches a year
• 3 years to puberty: About 2 to 2 and a half inches a year

Other signs to look for include:

• Chubby build: Without an adequate supply of growth hormone, a child’s body does not grow and mature. This causes them to keep their “baby fat” and appear younger than their peers. 
• Young face: A child with pediatric growth hormone usually has a round, younger-looking face. 
• Delayed tooth development: Growth hormone causes your child’s teeth to develop, so an absence of the hormone can lead to an absence of adult teeth. If you notice that your child has not lost baby teeth like their peers have, this could be a sign of a hormone deficiency.
• Late puberty: When a child’s body lacks growth hormone, it will not mature on the same schedule as their peers. If you have noticed that your child’s body has not changed like their peers’ have, talk with your pediatrician. 

Physical Examination

Your pediatrician will ask for a detailed history of your child, including pregnancy, use of any reproductive aides, birth weight, and family history of short stature or hormone abnormalities. Your healthcare provider also will most likely ask about your child’s diet since nutrient deficiency is often an underlying cause of slow growth. During the physical exam, your child’s doctor will talk with your child and examine their body for abnormal proportions. 

Your pediatrician will also look for signs of an intracranial lesion, multiple pituitary hormone deficiencies, and neonatal signs and symptoms of growth hormone deficiency in an infant, such as hypoglycemia, prolonged jaundice, microphallus, or craniofacial midline abnormalities.

Another important diagnostic tool used by your pediatrician is your child’s growth chart. This chart plots your child’s height, weight, head circumference, and BMI at each well-child visit, and gives an overall picture of their growth curve. Your child may be at risk for pediatric growth hormone deficiency if their growth reflects:

• Less than 6 cm per year before age 4
• Less than 5 cm per year between ages 4 and 8
• Less than 4 cm per year before puberty

Labs and Tests

When pediatric growth hormone deficiency is strongly suspected, your pediatrician will most likely refer your child to a pediatric endocrinologist, who will order lab tests to determine whether your child has the condition.

Blood Tests 

Your endocrinologist will often start by testing your child’s levels of insulin-like growth factor 1 (IGF-1) and insulin-like growth factor-binding protein 3 (IGFBP3) in the blood. Growth hormone stimulates our bodies to make both of these factors. Without an adequate supply of growth hormone, the level of these substances in the body will likely be low.

A normal lab range for your child will depend on their age, gender, and pubertal status. These tests can sometimes be difficult to interpret in young children because their normal levels are often low.

Growth Hormone Stimulation Test

A growth hormone stimulation test can help your child’s pediatric endocrinologist determine whether your child’s body is able to produce growth hormone. The test takes about two to five hours to complete and starts with taking a blood sample intravenously. The IV stays in place during the entire test, so talk with your medical team about how to support your child during the test. Some ideas include bringing their favorite toys or movies to the appointment. 

After the first blood draw, medication is inserted through the IV to stimulate growth hormone production. Additional blood draws are conducted over the next few hours.  After the final blood draw, your child’s IV will be removed. If the test finds a normal level of growth hormone in your child’s sample, then pediatric growth hormone deficiency is ruled out as a possible cause of their slow growth. Your endocrinologist will determine what an abnormal range is based on your child’s unique findings. 

This test is usually not necessary in newborns and infants with other positive findings, such as low IGF-1 or other pituitary hormone deficiencies.

Imaging

Once your healthcare provider has determined that your child’s growth has slowed or stopped, they may order imaging tests to check for signs of growth hormone deficiency. 

Two imaging tests are most commonly used for the diagnosis of pediatric growth hormone deficiency: X-ray and magnetic resonance imaging (MRI). 

X-Ray

Your healthcare provider may recommend an X-ray of your child’s hand and wrist to determine their bone age. Bone age usually matures as a child grows. In the case of pediatric growth hormone deficiency, the bones will appear younger than the child’s chronological age.

It’s important to note that an X-ray may not always be accurate. Children with obesity and severe obesity experience faster bone aging, so the bones of an obese child with a growth hormone deficiency will appear normal-age for their age upon X-ray. While an X-ray may be difficult for young children to sit still for, the test itself is very quick. Talk with your child about what to expect, such as wearing a lead apron and holding still just for a couple of minutes. 

Pituitary MRI

MRI is designed to use magnetic and radio waves to produce detailed images of soft tissues in the body. An MRI of your child’s head will give the healthcare provider a view of their pituitary gland and hypothalamus. If the pituitary gland or hypothalamus was malformed at birth or damaged from trauma, the radiologist will be able to spot it and help determine the cause of your child’s growth hormone deficiency.

It should be noted that a cranial MRI is used to determine the cause of hormone deficiency, not to establish the diagnosis. An MRI will also show a brain tumor or other central nervous system disorder. A cranial MRI is usually ordered for newborns who are born with a cleft palate, cleft lip, microphallus, and hypoglycemia.

Because a pediatric MRI can take anywhere from seven minutes to two hours, it’s vital for you and your child to discuss it ahead of time. Talk with them about what to expect and who will be present in the room. Younger children may benefit from practicing the MRI with a doll or stuffed animal as the patient. Other preparation tips to keep in mind include:

• Encourage your child to practice staying still for the MRI by lying on the couch for a set amount of time.
• Bring a favorite stuffed animal for your child to hold during the MRI. Just make sure it doesn’t contain metal.
• Play your child’s favorite movie or songs during the procedure. The radiology team will be able to help.
• Ask the medical team if you can be present in the room during the MRI and explain to your child where you will be. 

Differential Diagnoses

At first glance, the symptoms of pediatric growth hormone deficiency can be attributed to any number of other conditions. Your healthcare provider will consider and rule out the following conditions during the evaluation process:

• Familial short stature (FSS): Familial short stature occurs when a child’s final height is less than the third percentile for their age, sex, and population. It is related to the parents’ short stature and is not caused by a hormone deficiency. 
• Diabetes: Children with type 1 diabetes typically present with slowed growth and delayed puberty. This is often the first sign that something is wrong. Once children are diagnosed and begin regular treatment, many return to a normal growth curve. 
• Celiac disease: Children with celiac disease have an intolerance to gluten, and undiagnosed disease can manifest as slow growth. Infants and children with celiac disease may present with poor growth and failure to gain weight. Adolescents often experience delayed puberty. These symptoms usually correct themselves once gluten is removed from the child’s diet. 
• Childhood cancer survival: It is common for survivors of childhood cancer to have a short stature, and this condition is not always related to a deficiency in growth hormone. If your child has a history of cancer, your pediatric oncologist will work with you to closely monitor their growth and make treatment recommendations if needed.
• Genetic conditions: Children with several chronic conditions, including Turner syndrome, Noonan syndrome, Prader-Willi syndrome, aggrecan deficiency, SHOX deficiency, and Silver-Russell syndrome, typically all present with short stature and slow growth.

A Word From Verywell

Supporting your child during the diagnostic process for pediatric growth hormone deficiency can feel grueling. Start by talking with your pediatrician about any concerns over your child’s height or growth rate. While a hormone deficiency can take time to diagnose, the first step is sitting down to talk with your pediatrician and reviewing your child’s growth chart. Even if your child does not have growth hormone deficiency, you may discover another treatable condition. As with any pediatric condition, early diagnosis and treatment are the most effective route for helping your child reach their full adult height potential and live a healthy life.