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What is growth hormone deficiency?

As the name implies, growth hormone deficiency results when the pituitary gland doesn't produce enough growth hormone to stimulate the body to grow. This can result in noticeably short stature in children.

  • Growth hormone deficiency may be partial (the pituitary gland produces insufficient amounts of growth hormone) or total (the pituitary gland produces no growth hormone).
  • Growth hormone deficiency may occur during infancy or later in childhood.
  • About one in 4,000 to 10,000 children have growth hormone deficiency.
  • With early detection and treatment, many of these children can reach a normal height.

What are the symptoms of growth hormone deficiency?

Since growth takes place over many years and since children grow at different rates, symptoms of growth hormone deficiency may be hard to identify. In addition to noticeably slow growth with normal body proportions, signs may include:

  • immature appearance, compared to peers
  • a chubby body build
  • a prominent forehead
  • an underdeveloped bridge of the nose

Growth hormone deficiency has no effect on a child’s intelligence.

These symptoms may resemble other conditions, so be sure to always consult your child's physician for a diagnosis.

How do you define ‘normal’ growth?

Growth rates vary considerably from child to child. But measured in height, average "normal" growth is often described as:

  • 0-12 months: about 10 inches a year
  • 1-2 years: about 5 inches a year
  • 2-3 years: about 3½ inches a year
  • 3 years to puberty: about 2 to 2½ inches a year

If your child is less than the third percentile in height for a child of his age, that can be a red flag for growth hormone deficiency.

What causes growth hormone deficiency?

Damage to the pituitary gland or hypothalamus may be the result of an abnormal formation that occurred before your child was born (congenital) or something that occurred during or after birth (acquired).

Congenital growth hormone deficiency can occur if there are mutations in genes for factors that are important in pituitary gland development, or in receptors and factors (including growth hormone) along the growth hormone pathway; to date, however, the cause of most of these cases is unknown.

Acquired causes of growth hormone deficiency include:

  • a brain tumor in the hypothalamus or pituitary
  • head trauma
  • radiation therapy for cancers, if the treatment field includes the hypothalamus and pituitary
  • diseases that infiltrate the hypothalamus or its connection to the pituitary gland, such as histiocytosis
  • an autoimmune condition (lymphocytic hypophysitis)

It's also important to remember that growth hormone deficiency is only one of many conditions that may affect your child’s growth. Your child’s short stature may be caused by other syndromes, and growth failure may be due to decreased nutritional intake, gastrointestinal disorders, diseases that have increased metabolic demand, or hypothyroidism.

What are complications of growth hormone deficiency?

Some research suggests that there are additional complications from growth hormone deficiency, including:

  • decreased bone mineral density
  • increased cardiovascular risk factors
  • decreased energy level

Questions to ask your doctor

You and your family are key players in your child’s medical care. It’s important that you share your observations and ideas with your child’s health care provider and that you understand your provider’s recommendations.

If your child is experiencing symptoms of growth hormone deficiency and you’ve set up an appointment, you probably already have some ideas and questions on your mind. But at the appointment, it can be easy to forget the questions you wanted to ask. It’s often helpful to jot them down ahead of time so that you can leave the appointment feeling like you have the information you need.

If your child is old enough, you may want to suggest that she write down what she wants to ask her health care provider, too.

Some of the questions you may want to ask include:

  • What’s causing my child’s growth hormone deficiency?
  • Will you be prescribing growth hormone replacement therapy?
  • Are there any side effects or potentially dangerous risks to treatment?
  • How long will my child have to remain on medication?
  • How much can I expect my child to grow?

How Boston Children’s Hospital approaches growth hormone deficiency

We view the diagnosis of growth hormone deficiency as an important first step to treatment — and, ultimately, to your child’s long-term health and continued growth. You can rest assured knowing your child is in capable hands.

Our compassionate staff includes physician specialists who are experienced in the evaluation, diagnosis, and treatment of growth hormone deficiency. And we are uniquely qualified to determine the best course of care for your child. Our child-centric approach ensures that we care for your child as a child, not just another patient.

Because the chain of events involved in growth hormone deficiency is so complex, our researchers are investigating the different events that can cause a child to have short stature. Not all of these individual defects are well understood or easy to detect with a test, making this research vital to treatment strategies.

Our Division of Endocrinology is one of the world's leading centers dedicated to caring for children and adolescents with acute and chronic endocrine and metabolic disorders. For children who suffer from growth problems, our dedicated team of doctors, nurses, and other caregivers offer hope for a healthier future.

Growth Hormone Deficiency | Diagnosis & Treatments

How we diagnose growth hormone deficiency

The first step in treating your child is forming an accurate and complete diagnosis. Before a growth hormone deficiency diagnosis can be made, your child's physician may have to rule out other disorders first, including genetic short stature (inherited family shortness), inadequate caloric intake, thyroid hormone deficiency, and other illnesses, including gastrointestinal problems.

In addition to learning your child's complete medical history, gathering information about the heights and any health problems of your relatives, and conducting a physical examination, your child's doctor may:

  • monitor your child's growth over a period of time
  • review the mother's pregnancy, labor, and delivery
  • draw a small amount of blood to look for evidence of other diseases
  • arrange for an x-ray of your child's hand and wrist (to compare bone development with chronological age and determine growth potential)
  • measure amounts of insulin-like growth factor-1 (IGF-1) and insulin-like growth factor binding protein-3 (IGFBP-3) in the blood, which are produced when the liver and other tissues are stimulated by growth hormone

Since growth hormone is produced in bursts, it is unlikely that any single blood sample will provide a definitive diagnosis.

If growth hormone deficiency is suspected, your physician may use a stimulant of growth hormone secretion (which may include vigorous exercise and/or several chemicals and medications), and measure the growth hormone release over time.

If growth hormone deficiency is diagnosed, your physician may order an MRI of the brain to look at the hypothalamus and pituitary gland.

After we complete all necessary tests, our experts meet to review and discuss what they have learned about your child's condition. Then we will meet with you and your family to discuss the results and outline the best treatment options.

Researchers are currently working on more efficient and accurate ways of diagnosing growth hormone deficiency.

How we treat growth hormone deficiency

Our physicians are focused on child-centered care, and we're known for our science-driven approach. Our experienced doctors know that growth hormone deficiencies are complex problems that can take different forms from patient to patient. Such an individualized illness may demand several thorough diagnostic tests and treatment specifically tailored to your child.

Typically, treatment of growth hormone deficiency involves receiving regular injections of synthetic human growth hormone, and children receive daily injections. Treatment usually lasts several years, although results are often seen as soon as three to four months after the injections are started.

The earlier treatment for growth hormone deficiency is started, the better chance the child will have of attaining her normal or near-normal adult height. However, not all children respond well to growth hormone treatment.

Children who have mutations that make their cells unresponsive to the growth hormone may be treated with injections of synthetic human IGF-1 instead.

  • These injections are reserved for patients who are extremely short and have very low IGF-1 levels, but who passed their growth hormone stimulation testing.

The American Academy of Pediatrics (AAP) recommends that therapy with growth hormone is medically and ethically acceptable for children:

  • with classic growth hormone deficiency
  • awaiting kidney transplantation who have chronic renal insufficiency
  • with Turner syndrome (females)
  • whose extreme short stature prohibits their participation in everyday activities and who have a condition that will benefit from growth hormone therapy

How safe is treatment for growth hormone deficiency?

While there are many potential side effects, particularly if growth hormone is used to treat children who don't have a true hormone deficiency, researchers generally agree that treatment with human growth hormone is safe and effective. In 1985, the U.S. Food and Drug Administration (FDA) approved a biosynthetic growth hormone, thus:

  • eliminating the risk of disease transmission from human growth hormone (previously, the only source of this hormone had been from the pituitary glands of the deceased)
  • creating an unlimited supply of the hormone

Please consult your child's physician for more information.

Growth hormone deficiency may make your child feel insecure or self-conscious, and if appropriate, we can also put you in touch with mental health professionals to help with any negative feelings your child may be experiencing.

Coping and support

We understand that you may have a lot of questions when your child is diagnosed with growth hormone deficiency. How will it affect my child long-term? What do we do next? We've tried to provide some answers to those questions on this site, but there are also a number of other resources to guide you and your family through diagnosis and treatment.

Patient education: From the first office visit, our nurses will be on hand to walk you through your child's treatment and help answer any questions you may have — What is treatment like? Are there any side effects? They will also reach out to you by phone, continuing the care and support you received while at Children's.

Parent to parent: Want to talk with someone whose child has been treated for growth hormone deficiency? We can often put you in touch with other families who can share their experience.

Social work: Our social workers and mental health clinicians have helped many other families in your situation. Your social worker can offer counseling and assistance with issues such as stresses relating to small stature, coping with your child's growth hormone deficiency diagnosis, and dealing with financial difficulties.

On our patient resources pages, you can read all you need to know about:

Growth Hormone Deficiency | Programs & Services