Diagnosing growth hormone deficiency can be difficult. Your child’s health care provider will compare his or her growth to other children of the same age and sex.
A health care provider may also measure skeletal maturation by comparing X-rays of the hands and wrists. Typically, GH deficiency results in short stature and delayed skeletal growth.
Symptoms
The lack of growth hormone usually results from a problem with the pituitary gland. The pituitary gland receives instructions from other parts of the brain, especially the hypothalamus, to produce GH. The hypothalamus sends messages to the pituitary gland through a small tube (pituitary stalk) connecting the two. If something interferes with the blood supply to the pituitary gland or there’s a tumor or surgery that affects the pituitary, it can prevent GH from being released. A lack of GH can appear either in childhood or later, in adulthood.
When children have low GH levels, they often have short stature. They might also have a slower rate of bone development, and their hips may not fit together correctly. This can cause pain, limping, or other joint problems. Some children have trouble with school work because they have a difficult time keeping up with their peers.
A few rare genetic conditions can lead to a lack of growth hormone. One example is Laron syndrome, which occurs when a gene that controls the production of a protein called GHR fails. This protein binds GH and triggers release of another protein, IGF-1, which stimulates growth. If you have Laron syndrome, GH and IGF-1 are both low or undetectable in your blood.
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Other genetic mutations can result in a deficiency of GH and other pituitary hormones. This is called generalized hypopituitarism and it can be isolated or accompanied by a deficiency of other anterior pituitary hormones such as FSH, LH, TSH, and vasopressin.
Symptoms of growth hormone deficiency in adults are similar to those in children. In addition to a slowing of bone and muscle growth, you might have trouble with your weight or experience depression. You might also have a weaker immune system, so you are more likely to get infections.
Doctors usually diagnose a lack of growth hormone through tests and examinations. These include measuring the size of your child’s bones and wrists and comparing them to those of other children of the same age. They can also use a test called a bone scan to see if your child’s bones are maturing properly.
Diagnosis
During regular doctor visits, your child’s health care provider will check the growth of his or her body. If he or she grows significantly slower than other kids of the same age, this is considered to be growth failure and may be due to growth hormone deficiency. Children with GH deficiency are shorter than other children of the same age and sex, and have a thinner build than other kids of the same sex. In most cases, the child has normal intelligence.
Depending on your child’s symptoms, your doctor may order other tests to diagnose the condition. These include blood tests to determine the levels of insulin-like growth factor (IGF-1) and a protein called IGFBP-3, which help determine whether your child has a type of GH deficiency that causes reduced bone growth and short stature. Other blood tests may be ordered to rule out other conditions that affect growth. These include a prolactin test, adrenocorticotropic hormone (ACTH) and luteinizing hormone (LH).
Your child’s doctor will look at your child’s family history and medical records to see if anyone has had problems with slow growth or other symptoms of GH deficiency. They may also draw a growth chart to see how your child compares to other kids of the same age and sex.
A growth hormone deficiency can be present from birth (congenital) or develop later in life as a result of damage to the pituitary gland or hypothalamus, such as a brain tumor, radiation therapy or other medical treatments. It can also occur in conjunction with other forms of hypopituitarism.
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Adults with GH deficiency can be diagnosed by taking a special blood test to measure the levels of IGF-1 and IGFBP-3. They can also be treated with a high-dose of synthetic human growth hormone, which is usually given by daily injections. The treatment is effective and safe when it’s used in those who have a diagnosis of GH deficiency. People who have a GH deficiency due to other causes, such as a pituitary tumor or a problem with the hypothalamus, will need to have their levels of GH and other hormones monitored with MRIs every year.
Treatment
If a child is not growing as fast as they should, doctors often recommend that they see a pediatric endocrinologist (children’s hormone specialist). The doctor will likely order blood tests to check levels of growth hormone and insulin-like growth factor 1 (IGF-1) and to determine what is causing the slow growth.
Symptoms of growth hormone deficiency are most noticeable in early childhood. The doctor will compare the child’s height and weight to other children their age to look for signs of poor growth. The doctor may also order X-rays and CT scans to look for problems in the pituitary gland or brain.
Sometimes, there is no cause found for a child’s low growth rate. This is called idiopathic growth hormone deficiency. Other times, a genetic mutation or head injury causes the problem. Some types of GHD are caused by tumors that affect the pituitary gland. Radiation treatment for cancer or other medical conditions can also cause GHD by damaging the cells that produce GH.
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The most common treatment for growth hormone deficiency is a shot of synthetic GH that replaces what the body can’t make. Kids who get this treatment can catch up to their peers by the time they enter adolescence. The shots are usually given under the skin each day, and parents learn how to give them at home. Side effects from the shots are rare.
Treatment with recombinant human growth hormone (rHGH) or mecasermin can be used for people who don’t respond to somatotropin therapy. These medications are not as effective as somatotropin, but they do increase the rate of growth and help kids with idiopathic GHD to reach their full potential height.
During growth hormone replacement therapy, it is important to follow the doctor’s instructions exactly. This helps to avoid side effects like muscle or joint pain, fluid retention and numbness or weakness in the hands from carpal tunnel syndrome. A person who starts to experience these symptoms should let the doctor know so that he or she can lower the amount of hormone being given. It is also important to see the doctor regularly for blood tests to make sure the dose of rHGH or mecasermin is correct.