About other CHILDREN'S SPECIFIC growth-related CONDITIONS
Growth hormone (GH) plays a key role in the body’s growth and other processes. For children who are not growing and have Noonan Syndrome (NS), who are short (in stature) born small (Small for Gestational Age-SGA) and no catch-up growth by 2 years, and with Idiopathic Short Stature (ISS), a once-weekly GH injection could be an effective treatment option.
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What is Idiopathic Short Stature?
In medicine, the word “idiopathic” describes any health condition where the cause is unknown. Children with ISS are shorter than other children of the same age, sex, and population group, but doctors can’t identify a specific cause.
What are the signs of ISS?
Short stature is often the only feature of ISS. Otherwise, children with ISS have typical birth weights, body proportions, and growth hormone levels.
How is ISS diagnosed?
An ISS diagnosis comes after other causes of short stature are ruled out. These causes could include growth hormone deficiency or genetic disorders. To research possible causes, your child’s doctor may take physical measurements and order lab tests.
Your child may also be referred to a specialist called a pediatric endocrinologist. The specialist may order a stimulation or “stim” test, which measures the level of growth hormone in your child’s body.
If none of the tests point to a specific cause, your child may be diagnosed with ISS.
What’s the stim test?
A stim test measures the body’s ability to release the appropriate amount of growth hormone. The test involves artificially stimulating your child’s pituitary gland. Then, your child has a series of blood tests to see how much growth hormone their pituitary gland produces over a period of time.
After the diagnosis
Children diagnosed with ISS may be prescribed growth hormone treatment. This involves taking regular doses of growth hormone to stimulate growth. Your child may have regular follow-up visits to monitor their growth and make sure that treatment is working well.
What does “small for gestational age” mean?
“Small for gestational age” means a newborn is much smaller than expected. Specifically, babies born with a birth weight and/or length that are approximately below the 3rd percentile may be considered SGA.
“Gestational age” is the age at the current time point in pregnancy or time of birth, based on the point of conception. It includes the time that babies spend growing in the womb. Most babies are born between 37 and 41 weeks of gestation. A gestational age assessment compares a newborn’s weight and/or length against the average weight and length for other babies of the same gestational age.
Why are some children born SGA?
There isn’t always a clear reason behind SGA. Some factors that may be associated with SGA include genetic defects or problems with the placenta. It can also be caused by issues with the mother’s health, such as malnutrition, chronic high blood pressure, or chronic infections.
Do babies born SGA “catch up”?
Most babies born small for gestational age will reach their expected height and size by the time they turn 2. Catch-up for babies who are born prematurely may take longer.
If catch-up growth isn’t seen by the age of 2 or 3, your child’s doctor may refer them to a pediatric endocrinologist.
How is SGA diagnosed?
SGA is defined by a child’s size, so doctors may take several measurements of the child’s body and map the results on a growth chart.
Doctors may also perform multiple tests to determine what is causing or contributing to the short stature of a child born SGA. These may include tests to see if a child has growth hormone deficiency or problems with their thyroid (a gland in the neck that produces hormones). Doctors may also do blood tests to look for celiac disease, kidney problems, and other conditions unrelated to hormones.
The results of these tests may help doctors determine what kind of treatment the child needs.
After the diagnosis
Children diagnosed as SGA may be prescribed growth hormone therapy. This involves taking regular doses of growth hormone to stimulate growth. Your child may have regular follow-up visits to monitor their growth and make sure that treatment is working well.
What is Noonan Syndrome (NS)?
Noonan Syndrome is a rare genetic disorder that can affect both boys and girls. About 1 in 1,000 to 2,500 infants are born with NS.
NS can have a variety of effects on a child’s health and development, including short stature, heart defects present at birth, and certain distinctive facial features.
What causes NS?
NS is caused by a genetic mutation or abnormality. A number of genes are associated with NS, but about half of all cases are caused by a mutation on a gene found on chromosome 12.
If a parent has NS, there is a 50% chance that they will pass the genetic mutation onto their child.
What are the physical features of NS?
Certain features are common among children with NS. Some children may have many of these features, while others have just a few.
Short stature
- Many children with Noonan Syndrome may have short stature
- They may have typical weight and length at birth but fall behind during childhood
Facial features
- Wide-set eyes
- Down-slanting eyes
- Drooping eyelids
- Arched eyebrows
- Low-set ears with forward-facing lobes
Other characteristics
- Webbed neck
- Chest and skeletal abnormalities
- A low hairline at the back of the neck
- Undescended testicles in boys at birth
- Pale blue or blue-green eyes
- Heart defects
- Feeding difficulties in infancy
- Unusual bleeding or bruising
- Puffy hands and feet (lymphedema)
How is NS diagnosed?
A doctor or specialist may suspect NS based on your child’s physical features. From there, they may recommend genetic testing. This confirms the diagnosis by revealing any genetic mutations your child may have.
After the diagnosis
Children diagnosed with NS may be prescribed growth hormone therapy. This involves taking regular doses of growth hormone to stimulate growth. Your child may have regular follow-up visits to monitor their growth and make sure that treatment is working well.
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