Rare Nephrology News

Disease Profile

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.

Unknown

Age of onset

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ICD-10

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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.

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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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Categories

Endocrine Diseases

Summary

Growth hormone deficiency (GHD) is characterized by abnormally short height due to lack (or shortage) of growth hormone. It can be congenital (present at birth) or acquired. Most cases are identified in children. Although it is uncommon, growth hormone deficiency may also be diagnosed in adults.[1] Too little growth hormone can cause short stature in children, and changes in muscle mass, cholesterol levels, and bone strength in adults.[2] Most of the time, no single clear cause can be identified but several genetic causes of GHD have been described, such as mutations in the to POU1F1/Pit1 , PROP1 GHRH and GH1 genes.[3] In adolescents, puberty may be delayed or absent. Treatment involves growth hormone injections.[1]

Treatment

FDA-Approved Treatments

The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.

  • Somatropin (r-DNA) for injection(Brand name: Genotropin) Manufactured by Pfizer, Inc.
    FDA-approved indication: For long-term treatment of growth failure in children born small for gestational age who fail to manifest catch-up growth by two years of age. Also for the treatment of adults with growth hormone deficiency.
    National Library of Medicine Drug Information Portal
  • Somatropin (r-DNA) for injection(Brand name: Humatrope) Manufactured by Eli Lilly and Company
    FDA-approved indication: For the long-term treatment of children who have growth failure due to inadequate secretion of normal endogenous growth hormone.
    National Library of Medicine Drug Information Portal
  • Macimorelin acetate(Brand name: Macrelin) Manufactured by Strongbridge Biopharma (Note: This product is used for diagnosis and is not a medical treatment.)
    FDA-approved indication: December 2017, macimorelin acetate (Macrelin) was approved for the diagnosis of adult growth hormone deficiency (AGHD).
    National Library of Medicine Drug Information Portal
  • Somatropin (r-DNA) for injection(Brand name: Norditropin) Manufactured by Novo Nordisk Pharmaceuticals
    FDA-approved indication: Long-term treatment of children who have growth failure due to inadequate secretion of endogenous growth hormone.
    National Library of Medicine Drug Information Portal
  • Somatropin (r-DNA) for injection(Brand name: Nutropin AQ) Manufactured by Genentech, Inc.
    FDA-approved indication: For use in the long-term treatment of children who have growth failure due to a lack of adequate endogenous growth hormone secretion. Also for treatment of children with growth failure associated with chronic renal insufficiency and as replacement therapy for growth hormone deficiency in adults after epiphyseal closure.
    National Library of Medicine Drug Information Portal
  • Somatropin (r-DNA) for injection(Brand name: Saizen) Manufactured by EMD Serono, Inc.
    FDA-approved indication: For the long term treatment of children with growth failure due to inadequate secretion of endogenous growth hormone. Also for the treatment of adults with GHD that started as a child or as an adult.
    National Library of Medicine Drug Information Portal

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 Supporting this Disease

    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.

      Where to Start

      • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
      • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
      • The Pediatric Endocrine Society provides an online fact sheet entitled "Growth Hormone Deficiency: A Guide for Families."
      • The MAGIC Foundation provides information about this condition. The MAGIC Foundation provides support services for the families of children with a wide variety of chronic and/or critical disorders, syndromes and diseases that affect a child's growth.

        In-Depth Information

          References

          1. Growth hormone deficiency children. MedlinePlus. 2015; https://www.nlm.nih.gov/medlineplus/ency/article/001176.htm.
          2. Growth hormone test. MedlinePlus. 2014; https://www.nlm.nih.gov/medlineplus/ency/article/003706.htm.
          3. Richmond EJ & Rogol AD. Diagnosis of growth hormone deficiency in children. UpToDate. May 2016; https://www.uptodate.com/contents/diagnosis-of-growth-hormone-deficiency-in-children.