Growth Hormone Deficiency Diagnosis, Treatment and Causes


Treatments Can Help Provide Better Outcomes

Growth hormone deficiency (GHD) is a growth disorder associated with inadequate secretion of growth hormone (GH) from the pituitary gland, the "master gland" in the brain.

On this page, you'll find information on the condition, its diagnosis and treatment, our pipeline, as well as useful Pfizer resources.

Disease Education Information

What Is Growth Hormone Deficiency?

Growth hormone deficiency is a rare disease that can be caused by genetic mutations or acquired after birth. Because the patient's pituitary gland secretes inadequate levels of somatropin, the hormone that causes growth and cell production, his or her height will be affected and puberty delayed. Without treatment, the child will grow to be very short and may experience other health problems.

Who Gets Growth Hormone Deficiency?

Growth hormone deficiency affects one in 4,000 to 10,000 people. It can be congenital, caused by genetic mutation, or acquired after birth, due to trauma, brain tumor, or radiation therapy. It can also be idiopathic, in which case its cause is unknown. In some cases, it can result when patients have undiagnosed problems with their thyroid and adrenal glands.

What Are the Symptoms of Growth Hormone Deficiency?

The symptoms include:

  • Overall growth delay
  • Short stature
  • Maturation delay
  • Headache
  • Fluid retention
  • Muscle and joint aches
  • Slippage of the hip bone

The condition results in a delay in the lengthening of the long bones of the extremities that is not in sync with normal growth for the child's age.

How Is Growth Hormone Deficiency Diagnosed?

Accurate measurements of length (taken from birth to when the patient is two years old) or standing height (from age two onward) should be performed and plotted on the appropriate growth chart. The rate of growth should also be closely monitored, and the child's growth pattern compared with established normal patterns, for children of the same age and gender, to identify any growth lag.

If a growth delay is identified, a blood test should be done to measure levels of insulin growth factor (IGF-I), whose levels depend on growth hormone levels. Assessment of bone age, by x-raying the patient's non-dominant hand, should also be performed.

Growth hormone stimulation testing may be required. This includes the administration of certain hormones and measurement of the hormone before and after their intake.

Can Growth Hormone Deficiency Be Treated?

Treatment involves daily injections of growth hormone for several years. During this time, the child must be seen regularly by the doctor to ensure that treatment is working and the dosage is correct. Older children can learn to give themselves the shot.

The earlier the condition is treated, the better the child's chances of growing to near-normal adult height. Typically, patients grow by four inches or more during their first year of treatment and three or more inches over the next two years. Growth then continues but at a slower rate.

If the condition is not treated, it may lead to delayed puberty and permanently short stature, as well as other metabolic conditions.

Pfizer Rare Disease Resources for Growth Hormone Deficiency

Pipeline and Clinical Trials
Growth hormone deficiency is a target in Pfizer's growing arsenal of treatments for rare diseases. More information is available on new drugs in our pipeline, as well as clinical trials of potential new treatments for rare diseases.
Pfizer actively seeks partnerships with research institutes, universities, companies, patient advocacy organizations, and other groups to accelerate the availability of groundbreaking therapies that will make a real difference in the lives of patients suffering from growth hormone deficiency and other rare diseases.
For Healthcare Professionals
PfizerPro offers information on treatments for growth hormone deficiency and other rare diseases.
Pfizer Rare Disease Consortium
Pfizer is focusing on collaborations with world-class R&D organizations to advance and speed rare disease treatment innovations. The Pfizer Rare Disease Consortium in the UK, our first center of excellence in rare disease research, is a model for future collaborations in Europe and the US.
Grants and Contributions
Pfizer offers grants and funding for research and for programs designed to improve daily life and outcomes for patients with rare diseases.
Patient Assistance Program – Pfizer RxPathways®
Pfizer RxPathways is Pfizer's patient assistance program helps eligible patients get access to their Pfizer medicines by offering a range of support services.
Rare Disease Research
A deeper understanding of the genetics of rare diseases gives us an opportunity to explore breakthrough science, new approaches and pioneering collaborations to potentially deliver next-generation therapies for people living with rare diseases.