Types of Growth Disorders

Some children experience slow growth due to factors such as diet, emotional stress, or disease. For a small number of children and adults, their short stature is caused by a medical condition that either slows or stops growth. Norditropin® is used to treat some of these conditions.

children lined up

Childhood Growth Hormone Deficiency

What is childhood growth hormone deficiency?

Growth hormone deficiency (GHD) means that your child’s body does not make enough growth hormone, which is needed for growth during childhood. Not enough growth hormone can cause poor growth in children.

What causes GHD?

Reasons for growth hormone deficiency include:

  • Lack of glandular development. Children can be born with growth hormone deficiency because their pituitary gland or hypothalamus gland is not fully developed.
  • Glandular trauma or impediment. Some children develop growth hormone deficiency after birth as a result of head trauma, a serious brain infection, or even a brain tumor.

What are the signs of GHD?

Most children with GHD appear otherwise healthy. Often, short stature is the only feature present. If GHD is the cause of your child’s slow growth, there are medicines that may help.

Children with GHD are shorter than other children who are the same age. They may have a growth curve that is often below the 3rd percentile, or are showing abnormally slow growth for a long period of time.

Some signs of GHD are:

  • Much shorter height than expected, based on biological parents’ heights
  • Slowing of growth rate
  • Growth that is below the 3rd percentile
Growth hormone body icon
Checking test tubes

How is GHD diagnosed?

Your child’s doctor may check for other causes of poor growth, such as poor nutrition, emotional stress, or disease. After a physical exam and review of your child’s medical and family history, the doctor may look at his or her pattern of growth. They may order blood tests. If no signs of other conditions are present, the doctor may refer your child to a pediatric endocrinologist for further evaluation and testing.

For many parents, facing the possibility of growth hormone disorder leads to some worries, as well as many questions. By asking your questions and talking with your child’s doctor, you can decide the next steps together.

Doctor with child patient

After the diagnosis.

After diagnosing your child with GHD, the doctor may recommend a treatment such as growth hormone, and will likely ask for regular follow-up visits to monitor your child’s growth and make sure that treatment is working well. Learn more about Norditropin®, a growth hormone treatment option.

Small for Gestational Age

What does small for gestational age mean?

At birth, a baby’s weight and length are recorded. Babies with a birth weight and/or length below the 2.3rd percentile are classified as born small for gestational age (SGA).

What is gestational age?

Gestational age is the age of a baby starting from the time he or she was conceived. Most infants are born at 37 to 41 weeks of gestation. The comparison of a newborn’s measurements to expected characteristics is called a gestational age assessment.

Why is a child born SGA?

About 95,000 children born in the United States each year are shorter and lighter than normal. The cause is not always clear, but an infant may be born SGA because of a genetic defect, problems with the placenta, or health issues with the mother—such as heart disease, malnutrition, or drug, alcohol, or cigarette use.

Do babies born SGA “catch up”?

Babies born SGA should be carefully monitored for growth. Most will reach normal size and height by the time they’re 2 years old. Premature babies (born before 37 weeks of gestation) may take up to age 4 to catch up. If your child was born SGA, be sure to consult with your doctor about his or her growth.

If no catch-up growth happens by age 2 to 3, your child may need a referral to a pediatric endocrinologist, a doctor who specializes in hormone diseases in children. The endocrinologist will find out if there is any other reason, such as a nutritional problem or inherited disease, that is keeping your child from catching up in growth.

How is SGA diagnosed?

The doctor may take an X-ray of your child’s hand and wrist. The X-ray will show his or her bone age, which can help predict your child’s final adult height, and can show if your child still has room for growth.

For many parents, facing the possibility of a growth hormone disorder leads to some worries, as well as many questions. By asking your child’s doctor targeted questions, you can learn your options and decide on next steps together.

Doctor looking at RTG picture of hands
Baby with doctor

After the diagnosis.

After diagnosing your child with SGA, the doctor may recommend certain treatments, which may help your child with catch-up growth. If treatment is recommended, your doctor will likely ask for regular follow-up visits to monitor your child’s growth and make sure that treatment is working well.

Learn more about Norditropin®, a growth hormone treatment option.

Noonan syndrome

What is Noonan syndrome?

Noonan syndrome is a rare genetic disorder that affects both boys and girls. About 1 in 1,000 to 2,500 infants is born with Noonan syndrome, which can cause congenital heart disease, distinctive facial features, short stature, and other conditions.

What causes Noonan syndrome?

Noonan syndrome is caused by a mutation, or abnormality, in one of several genes. In about half of Noonan syndrome cases, the mutation occurs in a gene contained on chromosome 12. There is a 50% chance that a parent with Noonan syndrome will pass the chromosome to their child.

What are the physical features of Noonan syndrome?

Up to 83% of patients with Noonan syndrome have short stature. At birth, a child with Noonan syndrome may have normal weight and length, but during childhood and/or puberty they may fall behind in height, weight, and bone age or maturation compared with the general population.

Certain physical traits and conditions may occur in Noonan syndrome. Some children with Noonan syndrome may have many of these conditions, while others have just a few:

  • Heart defects
  • Abnormal bruising or bleeding
  • Unusual facial features (which may fade as a child grows), including wide-set eyes, down-slanting eyes, drooping eyelids, arched eyebrows, and low-set ears with forward-facing lobes
  • Delay in puberty
  • Poor eyesight
  • Chest and skeletal deformities
  • Webbed neck
  • A low hairline at the back of the neck
  • Learning disability or mild retardation
  • Lymphatic abnormalities
  • Undescended testicles in males at birth
  • Brilliant blue or blue-green eyes
  • Feeding difficulties in infancy
  • Frequent or forceful vomiting in infancy
  • Hearing problems

Everyone is different: Some children may have many of these features, while others have just a few. Because children with Noonan syndrome usually have more than one of these traits, most likely they will need to see other medical specialists, like a heart specialist (cardiologist) or an eye specialist (ophthalmologist).

What about puberty?

In children with Noonan syndrome, puberty can be delayed by about 2 years. The pubertal growth spurt is often reduced or absent. Bone development may also be delayed by 2 years.

How is Noonan syndrome diagnosed?

Today, there is no simple test that can diagnose a boy or girl with Noonan syndrome. The diagnosis is first made by recognizing the physical features of Noonan syndrome. After evaluation, a geneticist may confirm a diagnosis of Noonan syndrome with genetic testing.

After the diagnosis.

If your child is diagnosed with Noonan syndrome, the pediatric endocrinologist may recommend a treatment such as growth hormone. And, they’ll probably ask to schedule regular follow-up visits with the appropriate specialist, to monitor your child’s growth, and other conditions.

Learn more about Norditropin®, a growth hormone treatment option.

Parents and caregivers can find community, support, and educational resources through growth-related patient advocacy groups. Visit the Noonan Syndrome Foundation to learn more.

Turner syndrome

What is Turner syndrome?

Turner syndrome is a genetic disorder in girls, which can cause short stature, ovarian failure, and certain health problems. It is a rare disorder, present in approximately 1 in 2,500 females.

What causes Turner syndrome?

Inside every cell of our bodies are 23 pairs of chromosomes, which contain the genes that control traits such as eye color, hair color, and height. Turner syndrome is caused by a problem with a particular pair of chromosomes—the ones that determine a baby’s gender. Normally, girls have two X chromosomes, while boys have an X and a Y chromosome.

If your daughter has Turner syndrome, one of the following may be the case:

  • She has only one X chromosome
  • She has two X chromosomes, but one has an abnormality in or is missing the part that affects physical development, height, and other characteristics

What are the physical features of Turner syndrome?

Turner syndrome may affect girls in different ways, but shorter-than-normal height is among the most common signs. In fact, more than 95% of adult women with Turner syndrome are shorter than average. Girls with Turner syndrome may start to slow down in their growth as early as 18 months of age, and continue to grow slowly through childhood.

Girls with Turner syndrome may share other common conditions:

  • Heart defects
  • Short neck with a webbed appearance
  • Low hairline at the back of the neck
  • Differently shaped, low-set ears
  • High-arched palate
  • Drooping eyelids
  • Short stature
  • Ovarian failure
  • Broad chest
  • Lymphedema (puffy hands and feet)

You won’t see all of these traits in every girl with Turner syndrome—but most do have ovarian failure.

Surprising fact: Short stature in girls with Turner syndrome is not due to a lack of growth hormone, but, for unknown reasons, the girl does not respond to the growth hormone she makes herself.

What about puberty?

Puberty is the time when a child’s body matures into an adult body. For girls with Turner syndrome who have ovarian failure, puberty doesn’t happen naturally on its own. And, they typically don’t experience the growth spurt that often accompanies puberty. Often, it’s the absence of this growth spurt or delay in puberty that may prompt a doctor to look for the presence of a condition that is preventing normal growth.

How is Turner syndrome diagnosed?

About one-third of patients with Turner syndrome are diagnosed as newborns due to puffy hands and feet (lymphedema) or thicker-than-normal neck skin. Another third are diagnosed in mid-childhood by their short stature, and other patients are diagnosed in adolescence when they fail to enter puberty or as adults because of recurrent pregnancy loss.

To diagnose Turner syndrome, your child may be referred to a pediatric endocrinologist, a doctor who specializes in hormone diseases in children. The pediatric endocrinologist will do a blood test to examine her genetic makeup. This test, called a “karyotype,” arranges the chromosomes to identify any that are missing. It also tells which are abnormally shaped or have missing pieces.

  • Puffy hands and feet
    Thick neck skin

  • Short stature

  • Failure to enter puberty or recurrent pregnancy loss in adulthood

Girl with doctor portrait

After the diagnosis.

After diagnosing your child with Turner syndrome, your child’s pediatric endocrinologist may recommend a treatment such as growth hormone, and will likely ask for regular follow-up visits to monitor your child’s growth and make sure that treatment is working well.

Learn more about Norditropin®, a growth hormone treatment option.

Parents and caregivers can find community, support, and educational resources through growth-related patient advocacy groups. Visit the Turner Syndrome Foundation and Turner Syndrome Society to learn more.

Adult Growth Hormone Deficiency

What is Adult Growth Hormone Deficiency?

Adults diagnosed with growth hormone deficiency (GHD) do not produce sufficient growth hormone. Growth hormone is made in the brain by the pituitary gland.

It’s responsible for more than just your height; growth hormone also helps keep your bones, muscles, and metabolism in balance. In children, growth hormone deficiency can result in a lack of growth. But for adults, a lack of growth hormone can affect their bodies in other ways.

What causes it?

About 50,000 adults in the United States have growth hormone deficiency, with about 6,000 new patients diagnosed each year.

Typically, there are two main causes:

  • Adults may become growth hormone deficient when the pituitary gland or hypothalamus is damaged. This may happen as the result of disease, a head injury, a blocked blood supply, or after surgery or radiation treatment to treat tumors of the glands.
  • Adults may be diagnosed with growth hormone deficiency as children. Some require treatment throughout life. And while most adults with GHD are diagnosed as children, some don’t find out they have growth hormone deficiency until they reach adulthood.

In up to 80% of adults diagnosed with GHD, growth hormone deficiency is a result of damage to the pituitary gland or hypothalamus, most often caused by benign (non-cancerous) tumors called pituitary adenomas, or from certain treatments of these tumors. Rare causes of adult GHD include diseases such as sarcoidosis, tuberculosis, histiocytosis, and hemochromatosis (iron overload).

What are the signs of Adult Growth Hormone Deficiency?

Most children with growth hormone deficiency have obvious symptoms, such as short stature. But because adults have already reached their full height, the symptoms of adult growth hormone deficiency are different. Growth hormone deficiency can affect the proportion of fat, muscle, and bone in your body, so you may notice the following signs and symptoms:

  • Increased fat, especially around the waist

  • Decreased muscle mass

  • Thinning bones

  • Higher cholesterol, especially LDL (the "bad" cholesterol)

How is Adult Growth Hormone Deficiency diagnosed?

If your doctor suspects the possibility of adult GHD, he or she may refer you to an endocrinologist, a doctor who specializes in hormone disorders.

In order for the endocrinologist to confirm you have adult GHD, they may order a stimulation test, or "stim" test. During this test, a patient is given a medication that causes the pituitary gland to release larger amounts of growth hormone at once. Several blood samples are taken over a period of time, measuring the amount of growth hormone in the body. Your endocrinologist may need to do more than one stim test to accurately diagnose growth hormone deficiency.

After the diagnosis.

Your endocrinologist may recommend treatment to augment the amount of growth hormone produced by your pituitary gland, and will likely ask for regular follow-up visits to make sure the treatment is working well. Learn more about Norditropin®, a growth hormone treatment option.

Prader-Willi Syndrome

What is Prader-Willi syndrome?

Prader-Willi syndrome (PWS) is a rare genetic disorder that affects both boys and girls. About 1 in 10,000 to 30,000 people worldwide are affected by PWS, which can cause childhood obesity as well as difficulties with learning, hormonal and neurological function, and behavior.

Prader-Willi syndrome affects both boys and girls. One in 10,000 to 30,000 people worldwide are affected by Prader-Willi syndrome.

What causes Prader-Willi syndrome?

PWS results when certain genes located on an area of chromosome 15 are abnormal or missing. In most cases, children do not inherit PWS from their parents—the error in the genes just happens.

The signs of PWS vary throughout life. Babies with PWS have poor muscle tone and difficulty feeding. As they grow, they often experience an abnormally increased appetite, along with short stature. In later childhood, obesity-related complications may arise, along with scoliosis, epilepsy, and additional behavioral problems.

Children with PWS may have some or all of these characteristics:

Infant icon
  • In infancy
  • Poor muscle tone
  • Lethargy
  • Difficulty Feeding
  •  
  • Slow growth
  • Poor reflexes
Child icon
  • In early childhood
  • Facial features such as narrow forehead and almond-shaped eyes
  • Puffy hands and fingers
  • Delays in motor and language skills
  • Learning disabilities
  •  
  • Increased appetite
  • Obesity
  • Short stature due to reduced growth hormone secretion
  • Behavior problems
Adolescent icon
  • In late childhood and adolescence
  • Abnormally increased appetite
  • Lack of satiety after eating
  •  
  • Food-seeking behavior
  • Obesity-related complications such as diabetes and sleep apnea

Surprising fact: Many genetic disorders are inherited—passed down from parents to their children. But PWS is different. It occurs when genes from a baby's father do not function properly. These errors in the genes happen randomly, so while PWS is rare, it can occur in any pregnancy.

What about puberty?

Both boys and girls with PWS experience a delay in puberty and lack the pubertal growth spurt typically seen during this phase of development.

How is Prader-Willi syndrome diagnosed?

Before genetic testing was developed, children were diagnosed based on exhibiting the characteristics of PWS such as lethargy and feeding problems in infancy or increased appetite and distinctive facial features in early childhood. Today, if PWS is suspected, the doctor may refer your child to a geneticist for genetic testing to confirm a diagnosis.

In addition, a pediatric endocrinologist may order a stimulation test, or “stim” test, to determine whether your child has growth hormone deficiency (GHD). During this test, a patient is given a medication that causes the pituitary gland to release larger amounts of growth hormone. Over a period of time, several blood samples are taken to measure the amount of growth hormone in the body.

  • Newborn symptoms
    Newborn symptoms

    Poor muscle tone and lethargy
    Difficulty feeding

  • Early-childhood symptoms
    Early-childhood symptoms

    Narrow forehead and almond-shaped eyes
    Puffy hands and fingers

  • Late-childhood symptoms
    Late-childhood symptoms

    Abnormally increased appetite
    Lack of satiety after eating
    Behavior problems related to food

After the diagnosis.

After diagnosing your child with PWS, the doctor may recommend a treatment such as growth hormone and will likely ask for regular follow-up visits to monitor your child’s growth and make sure that treatment is working well. Learn more about Norditropin®, a growth hormone treatment option.

Idiopathic Short Stature

Idiopathic Short Stature

Idiopathic short stature (ISS) is a term used when your child is very short compared with other children of the same age and there is no recognizable disorder, hormonal issue, or nutritional problem that would cause it.

What are the signs of ISS?

Children with ISS have normal birth weights and sufficient levels of growth hormone—which means they do not have growth hormone deficiency (GHD). Most children with ISS appear otherwise healthy and have normal body proportions. Often, short stature is the only feature present. If your child is diagnosed with ISS, there are medicines that may help.

Young male Norditropin patient with toy airplane

Some signs of ISS are:

  • Shorter height than the normal range, regardless of biological parents’ heights
  • Slowing of growth rate
  • Growth that is below the 3rd percentile

What about puberty?

Some boys and girls with ISS experience a delay in puberty, while others don’t.

How is ISS diagnosed?

Diagnosing your child with ISS means first ruling out other causes of short stature, such as GHD or a genetic disorder. Your child’s doctor will conduct a thorough personal and familial medical history and physical exam, which may include lab tests, along with measuring their height, arm span, and head circumference. Depending on the results of the examination, the doctor may make a referral to a pediatric endocrinologist for further testing—which may include genetic testing.

In addition, a pediatric endocrinologist may order a stimulation test, or “stim” test, to measure your child's level of growth hormone. During this test, your child is given a medication that causes the pituitary gland to release larger amounts of growth hormone. Over a period of time, several blood samples are taken to measure the amount of growth hormone in the body. If your child's growth hormone levels are normal, the diagnosis may be ISS.

In most cases, ISS is diagnosed by ruling out growth hormone deficiency as the cause of your child's short stature.

After the diagnosis.

After diagnosing your child with ISS, the doctor may recommend a treatment such as growth hormone and will likely ask for regular follow-up visits to monitor your child’s growth and make sure that treatment is working well. Learn more about Norditropin®, a growth hormone treatment option.

Find support.

Parents and caregivers of children with growth disorders can find support, community, and education through growth-related patient organizations, such as the MAGIC Foundation.

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