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GHRHR gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

GHRHR gene

The GHRHR gene provides instructions for a receptor in the pituitary gland that is critical for the production and release of growth hormone.

Normal Function

The GHRHR gene provides instructions for making the growth hormone releasing hormone receptor. This receptor is active (expressed) on the growth-stimulating somatotropic cells in the pituitary gland. This gland is located at the base of the brain and produces many hormones, including growth hormone. Growth hormone is necessary for the normal growth of the body's bones and tissues. The GHRHR receptor attaches (binds) to a molecule called growth hormone releasing hormone. This binding, along with the actions of other molecules, triggers the production of growth hormone and its release from the pituitary gland.

Health Conditions Related to Genetic Changes

Isolated growth hormone deficiency

More than 20 mutations in the GHRHR gene have been found to cause isolated growth hormone deficiency, a condition characterized by slow growth and short stature. Mutations in the GHRHR gene cause some cases of isolated growth hormone deficiency type IB. Most of these mutations replace single protein building blocks (amino acids) in the receptor protein, preventing the production of a functional receptor. A nonfunctional receptor cannot effectively trigger the production of growth hormone or signal its release from the pituitary gland. As a result, little growth hormone is produced or available in the body in people with GHRHR gene mutations, leading to isolated growth hormone deficiency type IB.

Other Names for This Gene

  • GHRFR
  • GHRH receptor
  • GHRHR_HUMAN
  • GRF receptor
  • GRFR
  • growth hormone-releasing factor receptor
  • growth hormone-releasing hormone receptor

Frequently Asked Questions

Treatment with recombinant human growth hormone is highly effective and is the standard of care for this condition. When started early in childhood, rhGH therapy can significantly improve growth velocity and help patients achieve a near-normal adult height. However, the degree of catch-up growth depends on the age at diagnosis and the duration of treatment. Early intervention is crucial to maximize final height potential, as the growth plates close during puberty.
This condition is inherited in an autosomal recessive pattern, which means that both parents must carry one copy of the altered GHRHR gene to have a child with the disorder. Parents are typically unaffected carriers. If both parents are carriers, there is a 25 percent chance with each pregnancy that the child will have the condition, a 50 percent chance the child will be a carrier, and a 25 percent chance the child will not have the gene variant. Siblings of an affected child should be tested to determine their carrier status and growth hormone levels.
Children with GHRHR mutations typically present with normal birth length and weight but fail to maintain a normal growth velocity after the first year of life. They often exhibit a "young" facial appearance, delayed bone age, and proportionate short stature. Unlike some other forms of growth hormone deficiency, these children usually have normal intelligence and no other pituitary hormone deficiencies, which is why it is classified as "isolated." Diagnosis is confirmed through growth hormone stimulation tests showing a blunted response and genetic testing for GHRHR variants.
Because the mutation specifically affects the growth hormone releasing hormone receptor, the primary clinical manifestation is isolated growth hormone deficiency. Most individuals do not have other pituitary hormone deficiencies or neurological issues. However, long-term follow-up is recommended to monitor for potential metabolic effects of growth hormone deficiency, such as increased body fat mass or reduced bone density, which are generally reversible with appropriate hormone replacement therapy.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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