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Features include always present findings: Severe short stature. 6 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Growth and development | 4 | Severe short stature, Decreased serum insulin-like growth factor 1, Impaired growth-hormone response to insulin stimulation test |
GHRHR encodes growth hormone releasing hormone receptor (423 aa). Receptor for GRF, coupled to G proteins which activate adenylyl cyclase. Stimulates somatotroph cell growth, growth hormone gene transcription and growth hormone secretion Highest expression in Pituitary (294.2 TPM) and Testis (0.3 TPM).
Isolated growth hormone deficiency, type 4 is associated with mutations in the GHRHR gene on chromosome 7.
GHRHR is classified as a druggable target (Cell Surface, Druggable Genome, and G Protein Coupled Receptor categories) with score 19.6.
Genetic testing for GHRHR is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 1 always present feature.
No clinical trials have been registered for isolated growth hormone deficiency, type 4.
10 publications have been identified in PubMed for isolated growth hormone deficiency, type 4. Research spans Review / Meta-Analysis (30%), Case Report / Case Series (30%), and Basic Science / Preclinical (20%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 3 | 30% |
Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 1:07 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
4 |
Anterior pituitary hypoplasia, Decreased serum insulin-like growth factor 1, Impaired growth-hormone response to insulin stimulation test |
Bones and joints | 1 | Delayed skeletal maturation |
Patient case studies
3 |
30% |
Laboratory research | 2 | 20% |
Clinical study results | 1 | 10% |
Disease patterns and progression | 1 | 10% |
Song Y (2026). [PMID: 42028331](https://pubmed.ncbi.nlm.nih.gov/42028331/). *Pediatric Health Med Ther*. [Case Report / Case Series]
Prengemann L (2026). [PMID: 41665939](https://pubmed.ncbi.nlm.nih.gov/41665939/). *J Clin Endocrinol Metab*. [Clinical Trial Publication]
Campos VC (2026). [PMID: 41528724](https://pubmed.ncbi.nlm.nih.gov/41528724/). *Eur J Endocrinol*. [Epidemiology / Natural History]
Dulce RA (2025). [PMID: 39883351](https://pubmed.ncbi.nlm.nih.gov/39883351/). *Rev Endocr Metab Disord*. [Review / Meta-Analysis]
Liu KL (2025). [PMID: 41410097](https://pubmed.ncbi.nlm.nih.gov/41410097/). *Endocrinology*. [Basic Science / Preclinical]
Noorian S (2025). [PMID: 39980897](https://pubmed.ncbi.nlm.nih.gov/39980897/). *Clin Case Rep*. [Case Report / Case Series]
Li R (2025). [PMID: 39562420](https://pubmed.ncbi.nlm.nih.gov/39562420/). *Endocrine*. [Review / Meta-Analysis]
Huang X (2024). [PMID: 39435354](https://pubmed.ncbi.nlm.nih.gov/39435354/). *Front Endocrinol (Lausanne)*. [Case Report / Case Series]
Laane L (2024). [PMID: 38960990](https://pubmed.ncbi.nlm.nih.gov/38960990/). *Pituitary*. [Basic Science / Preclinical]
Finn BP (2024). [PMID: 39417960](https://pubmed.ncbi.nlm.nih.gov/39417960/). *Rev Endocr Metab Disord*. [Review / Meta-Analysis]