National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Isolated growth hormone deficiency


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Other Names:
Congenital IGHD; Congenital isolated GH deficiency; Non-acquired isolated growth hormone deficiency; Congenital IGHD; Congenital isolated GH deficiency; Non-acquired isolated growth hormone deficiency; Congenital isolated growth hormone deficiency See More
Subtypes:
This disease is grouped under:

Isolated growth hormone deficiency is a condition caused by a severe shortage or absence of growth hormone without other hormonal problems. Growth hormone is a protein necessary for normal growth of the bone and body tissues. Because people with this condition don't have enough of this hormone, they have short stature, which is noticeable from early childhood.[1] There are basically four different types of isolated growth hormone deficiency, which are classified by the severity of the symptoms, the cause and the inheritance: isolated growth hormone deficiency type IA,  isolated growth hormone deficiency type IB, isolated growth hormone deficiency type II and isolated growth hormone deficiency type III. Treatment involves giving growth hormone to those who are affected.[2][3][1]
Last updated: 7/20/2016

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Anterior hypopituitarism 0000830
Delayed skeletal maturation
Delayed bone maturation
Delayed skeletal development
[ more ]
0002750
Short stature
Decreased body height
Small stature
[ more ]
0004322
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Last updated: 7/1/2020

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources


Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Providing General Support


Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Financial Resources

  • Good Days provides help to patients with life-altering conditions. Assistance includes help with the cost of medications and travel.

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.


  1. Isolated growth hormone deficiency. Genetics Home Reference. 2012; https://ghr.nlm.nih.gov/condition/isolated-growth-hormone-deficiency.
  2. Kemp S. Pediatric Growth Hormone Deficiency Clinical Presentation. Medscape Reference. May 27, 2014; http://emedicine.medscape.com/article/923688-clinical.
  3. Alatzoglou KS & Dattani MT. Isolated Growth Hormone Deficiency: Genetic Causes and Treatment: Growth Hormone and GH1. Medscape. September 17, 2011; http://www.medscape.org/viewarticle/728618.