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What is SPIGFD?

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…she may need an early
and accurate diagnosis here.

What is Severe Primary IGF-1 Deficiency (SPIGFD)?
Don’t wait. Consult your pediatrician.
For children with short stature, finding the cause behind it early is crucial.

Short stature is a medical term used to describe a child who is significantly shorter compared to their peer group. About 2.5 out of 100 children are said to have short stature.1 1 in 100 of these children may have a rare condition called severe primary IGF-1 deficiency (SPIGFD), which causes not only short stature, but also other health concerns.2,3,4

It is natural for some children to be shorter than their peers, but if your child is significantly shorter than their friends, it is important to speak to their doctor early. Short stature can be caused by various conditions and each child’s case is unique, so doctors try to find the exact cause as soon as possible to help achieve an accurate diagnosis.

What causes short stature?

Normal growth can be affected by many different things. Poor growth is sometimes the result of conditions such as malnutrition, familial short stature, celiac disease, a gastrointestinal disorder, or some cancers.5 While going through a diagnosis, doctors will also have to evaluate and rule out things like malnutrition, issues with the pituitary or thyroid glands, or effect from the use of anti-inflammatory steroids to treat chronic conditions. For some children, the cause may not be as obvious and could be the result of a hormonal condition, or a genetic disorder.1

Once other causes have been ruled out, a doctor who specializes in children’s growth and hormones (called a pediatric endocrinologist) can help diagnose the exact condition behind your child’s short stature. Growth hormone deficiency (GHD) is one of the most commonly recognized conditions, caused by low levels of growth hormone and resulting in symptoms such as poor growth, underdeveloped bones, and obesity.6 Although SPIGFD may appear to be the same as growth hormone deficiency, it is a separate condition caused by a low level of insulin-like growth factor-1 (IGF-1), which is a hormone that makes bones, skin and muscles to grow.7

What is the difference between growth hormone (GH) deficiency and severe primary IGF-1 deficiency (SPIGFD)?

For children to grow normally, they need the right amount of both growth hormone and IGF-1 in their blood. Although both GH deficiency and SPIGFD affect a child’s growth, they are two very different causes of short stature: 3

  • Children with a GH deficiency have low levels of growth hormone
  • Children with SPIGFD have normal levels of GH in the blood, or sometimes higher than normal, so GH deficiency is not responsible for the lack of growth. These children have a lower amount of another hormone called IGF-1.

What is SPIGFD?

Severe primary IGF-1 deficiency (SPIGFD) is a medical condition that causes extreme short stature, due to low levels of a hormone known as insulin-like growth factor-1 (IGF-1) that is made in the liver.3,7 Depending on the levels of IGF-1, the condition may be classed as either primary IGF-1 deficiency (PIGFD) or SPIGFD, as the “S” stands for severe low levels of IGF-1.

A diagnosis of SPIGFD may be given if tests show: 3,7,8

  • a child’s height is 3 or more standard deviations below the “normal” height (this means that the child’s height is much lower than the “average” height for their age and sex).
  • they have enough, or more than enough, growth hormone in the blood (also called growth hormone sufficiency)
  • the level of IGF-1 in their blood is too low, or in some cases even undetectable, and doctors have ruled out other forms of IGF-1 deficiency such as malnutrition.

You may also come across the name Laron Syndrome mentioned when researching SPIGFD. Laron Syndrome is the most severe form of SPIGFD caused by inability of the growth hormone to interact with other cells of the body. A child with this condition will have extreme short stature, usually 4 to 10 standard deviations below the average height for their age and sex.4

Talk to your pediatrician if you are concerned about your child’s height.

How will short stature be assessed?

When evaluating short stature, a doctor will need to look at several things, such as:

  • Medical history and other medications
    The doctor will review your child’s medical history, including growth history, such as, if they’ve had any previous growth spurts, or if they are taking any medications that could impact their growth. The doctor will also rule out any other conditions that could be causing their short stature.
  • Nutrition
    The doctor will also discuss your child’s diet with you to identify any underlying concerns, such as food allergies or gastrointestinal disorders, and to get an overall understanding of the child’s nutrition.6
  • Growth assessment
    To help measure your child’s growth, doctors often use a tool called a growth chart. This allows them to see if your child is growing as expected for their age and gender. Healthcare professionals use the standard deviation score (SDS) to measure how much a child’s height varies from the average height for the child’s age and sex, which has been calculated to be the “standard” level.30
  • Blood tests
    If the doctor does suspect that your child has a growth disorder, they may take a blood sample. This is to determine the levels of important hormones in your child’s blood, such as growth hormone and IGF-1. This may also help to tell the doctor if your child suffers from growth hormone deficiency, or SPIGFD. The doctor may also perform a test called a growth hormone stimulation test. To do this your child will be given medicine to help their body release growth hormone, and blood samples will be taken at regular intervals. This will help the doctor find out how much growth hormone was released during the test and compare this to other children their age.
  • Bone age
    It’s also important for the doctor to assess your child’s bones with an X-ray to see if they have grown as much as expected for their age.6 Children who have familial short stature, or idiopathic short stature (ISS), don’t often show signs of poor bone growth. However, if your child does have a hormonal condition, such as growth hormone deficiency or SPIGFD, their bones may not be as developed as they should be.

Speak to your child’s doctor early to rule out other possible causes of short stature.

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