GH1 encodes growth hormone 1 (217 aa). Plays an important role in growth control. Its major role in stimulating body growth is to stimulate the liver and other tissues to secrete IGF1. Highest expression in Pituitary (53,059 TPM) and Brain Cerebellum (5.3 TPM).

Isolated growth hormone deficiency type II is associated with mutations in the GH1 gene on chromosome 17.

GH1 is classified as a druggable target (Druggable Genome, Growth Factor, and Hormone Activity categories) with score 8.7.

Genetic testing for GH1 is available. Testing is considered confirmatory for diagnosis.

4 FDA-approved treatments are available for isolated growth hormone deficiency type II, including SOMATROGON-GHLA (NGENLA, approved 2023), LONAPEGSOMATROPIN-TCGD (SKYTROFA, approved 2021), and SOMAPACITAN-BECO (SOGROYA, approved 2020). An additional 7 compounds hold orphan drug designation.

Approved Therapies

Orphan Drug Designations

The following drugs have received orphan drug designation from the FDA for isolated growth hormone deficiency type II. Orphan designation reflects regulatory interest and does not indicate approval for treatment.

Gene therapy approaches for isolated growth hormone deficiency type II have been reported in the published literature.

Phenotype severity distribution: 5 always present features.

No clinical trials have been registered for isolated growth hormone deficiency type II.

6 publications have been identified in PubMed for isolated growth hormone deficiency type II. Research spans Case Report / Case Series (50%), Review / Meta-Analysis (17%), and Basic Science / Preclinical (17%).

Recent Publications

• Song Y (2026). [PMID: 42028331](https://pubmed.ncbi.nlm.nih.gov/42028331/). *Pediatric Health Med Ther*. [Case Report / Case Series]

• Li R (2025). [PMID: 39562420](https://pubmed.ncbi.nlm.nih.gov/39562420/). *Endocrine*. [Review / Meta-Analysis]

• Ariyasu D (2025). [PMID: 39940828](https://pubmed.ncbi.nlm.nih.gov/39940828/). *Int J Mol Sci*. [Basic Science / Preclinical]

• Radovick S (2025). [PMID: 40058338](https://pubmed.ncbi.nlm.nih.gov/40058338/). *Horm Res Paediatr*. [Gene Therapy / Novel Therapeutics]

• Noorian S (2025). [PMID: 39980897](https://pubmed.ncbi.nlm.nih.gov/39980897/). *Clin Case Rep*. [Case Report / Case Series]

• Huang X (2024). [PMID: 39435354](https://pubmed.ncbi.nlm.nih.gov/39435354/). *Front Endocrinol (Lausanne)*. [Case Report / Case Series]