Pediatric Growth Hormone Deficiency (GHD)

What is pediatric growth hormone deficiency (GHD)?

Pediatric growth hormone deficiency (GHD) is a rare disorder that occurs during childhood when the body does not make enough growth hormone (GH). GH is a protein made by the pituitary gland (a gland at the base of the brain) and released into the blood. It increases levels of other hormones and proteins in the blood, which then work on the cells of growth plates in long bones to increase bone length. This is how we grow in height. When the body doesn’t secrete enough GH, it leads to abnormally short height, which is the main characteristic of this disease. Growth increments are the most important criteria for diagnosing a child with GHD. Normal levels of growth follow a pattern, and if recorded growth over six to twelve months is within those levels, then a growth disorder is unlikely. If the child is below those levels, they should be tested for low levels of GH. Pediatric GHD can be present at birth or be acquired later in the child’s life. It is thought to affect males and females equally.

What are the symptoms of pediatric GHD?

A child with GHD is usually normal sized at birth, but can develop symptoms listed below along the line:

Low blood sugar (hypoglycemia) in newborns
In male newborns, a small penis
Immature appearance compared to peers
Stunted growth
Short stature
A “chubby” build
Prominent forehead
Slow tooth eruption
Fine hair
Poor nail growth
High pitched voice

What causes pediatric GHD?

There can be many causes for GHD. Pediatric GHD present from birth is caused by genetic mutations or structural defects in the brain. Human traits are inherited from a person’s father and mother; each one contributes a copy of a gene, which interacts with the other copy. So, children may inherit the mutated gene from their parents. Mutations for GHD have been identified in the POU1F1/Pit1, PROP1, GHRH and GH1 genes, but there are likely more. In addition, GHD can also be acquired later in life because of brain trauma, infection, radiation therapy, or tumor growth in the brain. Alternatively, it can occur due to an unknown or undetermined cause.

How is pediatric GHD diagnosed?

Pediatric GHD is diagnosed with tests to stimulate the pituitary gland, secreting GH, which allows for the testing of blood samples for GH levels at timed intervals. Some of these tests include: insulin, arginine, clonidine, and I-dopa. Other tactics are to take x-rays and monitor the child’s growth over a period of time. Doctors will also perform tests to eliminate other possible disorders that may be causing the growth failure.

What are the treatments for pediatric GHD?

Pediatric GHD treatment includes involves daily injections of recombinant human growth hormone (rHGH). The dosage will be gradually increased as the child grows, then discontinued at the completion of skeletal maturation. Psychological treatment and therapy are usually helpful for children, to help them with the social aspects of having a short stature. Children with severe GHD should be re-tested after completing growth to see if they will need GH therapy as an adult.

Where can I find out more about pediatric GHD?