Glossary
To get Luca here….
To get Luca here….
…he may need an early
and accurate diagnosis here
Anxiety
Anxiety means feeling worried or nervous about something that is happening, or that might happen in the future for example, some children may feel anxious about their first day of school.
Body image
Your body image is how you perceive your body, for example, how you think your body looks. Severe negative body image can lead to other conditions, such as eating disorders.
Bullying
Bullying describes the negative behaviour of one person to another, usually to frighten them or force them to do something that they don’t want to do.
Celiac disease
Celiac disease is a serious condition caused by an immune system response to gluten. If a person suffers from celiac disease, whenever they eat gluten their immune system starts to attack healthy tissue, which causes damage and stops their ability to absorb the nutrients they need from food.
Coronary heart disease
Coronary heart disease occurs when there is a buildup of fatty tissue in the coronary arteries. This can narrow the arteries, restricting or even blocking the flow of blood to the heart. It’s often linked to poor diet and obesity.
Diabetes
Diabetes is a disease in which the body cannot control the sugar levels in the blood. Blood sugar levels are controlled by a hormone called insulin, which is made in the pancreas, which helps the body break down glucose and use it for energy. There are two types of diabetes: type 1 diabetes (where the body doesn’t produce insulin) and type 2 diabetes (where the body doesn’t respond to insulin or doesn’t make enough). Type 2 diabetes can be managed or slowed by making lifestyle changes to diet and exercise.
Emotional distress
Emotional distress describes a state of poor mental well-being that can take a wide variety of forms. It may be the result of an underlying mental health condition, such as depression or anxiety, or it could be due to environmental factors such as family issues or financial concern.
Emotional well-being
Emotional well-being means a positive state of mind, feeling on top of your emotions and involved and connected to friends, family and the community.
Familial short stature
Familial short stature is a condition in which the child’s height is considered lower than the “standard” for their age and gender but is consistent with their expected growth calculated from parental height. Children with familial short stature will often not show any signs of nutritional, hormonal, or genetic causes.26
Gastrointestinal disorder
Gastrointestinal (GI) disorders are conditions that affect the gastrointestinal tract. This is a group of organs, including the stomach and intestines, that form a part of our digestive system.
Genetic disorder
Genes are made up of DNA, which is the information centre of the cell. It carries all the genetic information that tells the body how to make different chemicals (including hormones). A genetic disorder is caused by a mutation in the DNA, which is a permanent change or deletion that affects the information produced. This can in turn cause problems with the way the body creates and regulates chemicals.
GH–IGF-1 axis
The growth hormone (GH)–insulin-like growth factor (IGF)-1 axis is an important hormonal system in your child/patient’s body which is responsible for regulating growth. It is a pathway from the pituitary gland in the brain, where growth hormone is produced, to the liver, where growth hormone stimulates the production of IGF-1, which is then released into the blood to help bones and tissue to grow.27
Glucose intolerance
The term glucose intolerance applies to any condition that results in higher blood sugar than expected, including hyperglycemia and type 2 diabetes.
Growth hormone
Growth hormone (GH), also called somatotropin, is a hormone responsible for stimulating growth and cell regeneration/repair. It is made in the pituitary gland in the brain.
Growth hormone deficiency
When the body doesn’t make enough growth hormone, it can’t grow effectively. This is called growth hormone deficiency (GHD). GHD could be caused by the pituitary gland (a small organ in the brain responsible for making growth hormone) not functioning properly, a problem with the instructions being sent by the brain, or by an imbalance of other hormones. However, GHD can also affect the levels of IGF-1 in the blood, as without normal levels of growth hormone, less IGF-1 is made in the liver.
Growth hormone stimulation test
A growth hormone stimulation (or provocation) test is designed to measure how much growth hormone is produced by your child’s body in a set period of time. It involves giving your child some medication to stimulate the release of growth hormone, and taking blood samples at regular intervals to find out how much growth hormone is present. The results are then compared with the expected result for a child of their age and gender to see if there is any significant difference.
Growth hormone sufficiency
Growth hormone sufficient means that your child/patient has enough growth hormone circulating in the blood to stimulate growth. If they still suffer from short stature, despite growth hormone sufficiency, it suggests a different problem is leading to reduced height.
Hypertension
Hypertension is the medical term for persistent high blood pressure. When your child/patient’s blood pressure is too high, there is extra strain on vital organs including the heart, kidneys, and the brain. If not treated, it can lead to other serious conditions such as heart attacks, stroke, or kidney failure. People who are obese, or don’t exercise enough are at higher risk of hypertension. Maintaining a healthy diet and doing regular exercise can help to reduce your blood pressure, but it’s still important to get it checked regularly.
Hypoglycemia
Hypoglycemia means that you have low blood sugar. If your child/patient is diagnosed with hypoglycemia, the level of glucose in your blood (your body’s main source of energy) is lower than it should be. This can sometimes be linked to diabetes, or treatment for diabetes.
Idiopathic short stature
Idiopathic short stature (ISS) is the diagnosis given when a child’s height falls significantly below the standard for their age and gender, but no identifiable cause can be found.
IGF-1 generation test
This test is designed to measure how much IGF- your child’s body is making to find out if it is enough for normal growth. Your child will need to have injections of growth hormone for around 4 days, and regular blood samples will be taken by a nurse. These will then be sent to a laboratory to see if there is enough IGF-1 in the blood.
IGF-1 2.5th percentile
This is the term for the lower limit of the “normal height” range.35 Children with extreme short stature fall significantly below this limit.
Insulin-like growth factor-1
Insulin-like growth factor-1 (IGF-1) is a hormone created in the liver. It is responsible for stimulating bone and tissue growth.
Laron Syndrome
Laron Syndrome is a rare form of short stature where the body is unable to use growth hormone. A child with this condition will have extreme short stature, usually 4 to 10 levels below the standard deviation score.4 According to the US Library of Medicine, about 350 cases of classic Laron Syndrome have been reported worldwide.28
Malnutrition
Malnutrition is a medical term for poor health and physical weakness as a result of having too little food, or not enough types of food necessary to maintain a healthy lifestyle. Malnutrition can also cause problems with growth in children, potentially leading to short stature.3
Obesity
Obesity means being extremely overweight, to the point where it is dangerous to your child/patient’s health. Obesity increases your risk of other serious health conditions, such as type 2 diabetes and coronary heart disease. Maintaining a healthy lifestyle, including good diet and regular exercise, can help to reduce or prevent obesity.
Pediatric endocrinologist
A pediatric endocrinologist is a healthcare professional who specializes in looking after children with conditions involving hormones. If your child is suspected to have short stature caused by a hormone deficiency, you will likely be referred to a pediatric endocrinologist.
Pituitary gland
The pituitary gland is a small bean-shaped organ at the base of the brain that controls how the body grows by producing hormones (the body’s chemical messengers), such as growth hormone.
Primary IGF-1 deficiency (PIGFD)
Primary IGF-1 deficiency, or PIGFD, is a condition in which the levels of the IGF-1 hormone in the blood are low, even though there is enough growth hormone available to help produce IGF-1. Children with PIGFD could have short stature.
Secondary IGF-1 deficiency
Secondary IGF-1 deficiency occurs when a child’s body doesn’t produce enough growth hormone, which then results in less IGF-1 being made in the liver.3
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.
Self-esteem
Having high self-esteem means having confidence in your own ability, and feeling good about yourself. People with low self-esteem often doubt themselves and have negative thoughts towards their own body and actions.
Severe primary IGF-1 deficiency (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 produced in the liver.3,27
A diagnosis of SPIGFD may be given if tests show: 3,7,8
- a child’s height is 3 or more levels below the standard deviation score (meaning that the child’s height is much lower than the “standard” height for their age)
- they have enough, or more than enough, growth hormone in the blood
- the level of IGF-1 in their blood is too low, or even undetectable
Short stature
Short stature is a medical term used to describe height more than two standard deviations (SDs) below the “standard” height for a child’s age. This means that they will be significantly shorter than other children their age.
Social isolation
Social isolation means not having a lot of social contact, leaving people feeling lonely and isolated from their friends. This could be due to mental health factors, such as depression or anxiety, or due to a physical disability or other health issue.
Social withdrawal
Social withdrawal means avoiding social contact with friends, family, and the community. It is often caused by an anxiety over leaving the house or feeling nervous about speaking with others. Children who are bullied may withdraw socially to avoid contact with their bullies.
Standard deviation score (SDS) – height
Height SDS refers to the amount a child’s height differs from the average height for a child their age. A negative value is below the average height, and if it is more than 2 SDS below average, the child may be considered to have short stature.
Social isolation
Social isolation means not having a lot of social contact, leaving people feeling lonely and isolated from their friends. This could be due to mental health factors, such as depression or anxiety, or due to a physical disability or other health issue.