Growth Hormone disorder/deficiency (GHD) is a disease that affects the pituitary gland in the brain.  The pituitary gland is responsible for maintaining the balance of some hormones, including the one that makes us grow.  There a few subdivisions of growth hormone deficiency including: acquired GHD, congenital GHD, and idiopathic GHD.  Acquired GHD means that someone developed the disease later in life, due to a trauma, infection, or possibly a tumor or radiation in the brain. Congenital GHD occurs when a patient is born with the disease due to a mutation or structural defect in the brain.  Idiopathic means that the disease occurs for an unknown reason or cause.

Diagnosing Growth Hormone Disorders

The most common diagnosis for a growth disorder is slowed growth progression.  In childhood, pediatricians use growth charts to measure a child’s growth from birth through adolescence.  Typically children with GHD have a slow or flat rate of growth, which may not show until the child is 2-3 years old or older.  The disease is often diagnosed in children around the age of 5 when they start school and ages 10-13 when puberty begins.  After slow growth is confirmed other tests such as measuring other hormones like thyroid, cortisol, insulin- like growth factor (IGF1) and insulin- like growth factor binding protein 3 (IGFBP3), an MRI to look at the brain and pituitary gland, and hand X-ray to look at the bone age can all be done to confirm diagnosis.

Treatment of Growth Hormone Disorders

When a diagnosis of GHD is confirmed the patient begins treatment with growth hormone.  Doses are individualized to the patient and usually determined by weight.  The dose is gradually increased and usually at the highest during puberty.  Once skeletal maturation is complete the therapy may be decreased or discontinued if determined treatment is not needed as an adult.  There are several different brands of growth hormone available: Nutropin, Humatrope, Genotropin, Saizen, Norditropin, and Omnitrope (somatropin).  Speak to your health care professional (HCP) about deciding which is right for you.

Turner Syndrome

Turner Syndrome is a genetic condition that only affects girls.  It occur when there is a complete or partial loss of the X chromosome.  This leads to symptoms that can include short stature (usually under 5 feet), narrow, high-arched palate, ears that protrude outward, webbed neck, droopy or lazy eye, broad chest, flat feet, and scoliosis.  Disease is not the same in any two girls and can range in symptoms.  Girls with Turner Syndrome are diagnosed by a blood test called karyotype and estrogen and progesterone levels are drawn to evaluate hormones.  Treatment of Turner Syndrome includes growth hormone to achieve a normal height in patients and also estrogen and progesterone replacement therapy.  Girls with Turner Syndrome can lead healthy and normal lives with proper treatment.

Prader- Willi Syndrome

Prader- Willi Syndrome is a genetic disorder that most people are born with but some can acquire if they experience a brain injury involving the hypothalamus in the brain.  Symptoms of the disease include increased appetite and a slow metabolism which can lead to obesity, short stature, incomplete sexual development, cognitive disabilities, and behavioral problems.  DNA testing to determine a diagnosis is known as DNA methylation analysis.  Family support is needed for these patients to help control diet and weight.  Talk to your doctor about possible treatments and other support available.

​For more information, visit:

Human Growth Foundation

National Organization for Rare Disorders

Turner Syndrome Society

Prader- Willi Syndrome Association

References:

Growth Hormone Deficiency. National Organization for Rare Disorders

Growth Hormone Deficiency, Children. US National Library of Medicine

Care of Girls and Women with Turner Syndrome: A Guideline of the Turner Syndrome Study Group. The Journal of Clinical Endocrinology & Metabolism 92(1):10–25 Printed in U.S.A. Copyright © 2007 by The Endocrine Society doi: 10.1210/jc.2006-1374

Basic Facts.  Prader- Willi Syndrome Association

Services provided by Long’s Drugs are not intended to replace the services of a physician. This information is provided for informational purposes only and is not a substitute for professional medical advice. You should consult a physician in all matters relating to your health, and particularly in respect to any symptoms that may require diagnosis or medical attention.