Rare Cardiology News

Disease Profile

Isolated growth hormone deficiency

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-5 / 10 000

33,100 - 165,500

US Estimated

1-5 / 10 000

51,350 - 256,750

Europe Estimated

Age of onset

Neonatal

ICD-10

E23.0

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Congenital IGHD; Congenital isolated GH deficiency; Non-acquired isolated growth hormone deficiency;

Summary

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]

Symptoms

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.

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

Organizations

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

    Learn more

    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.

      References

      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; https://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; https://www.medscape.org/viewarticle/728618.