LHX3 encodes LIM homeobox 3 (397 aa). Transcription factor. Highest expression in Pituitary (89.7 TPM) and Testis (0.4 TPM).

Non-acquired combined pituitary hormone deficiency with spine abnormalities is associated with mutations in the LHX3 gene on chromosome 9.

The LHX3 protein participates in ISL1:LHX3/4:LDB1:SLIT2 gene, SLIT2 gene expression is stimulated by ISL1, and Regulation of expression of SLITs and ROBOs pathways.

LHX3 is classified as a druggable target (Transcription Factor and Transcription Factor Complex categories) with score 0.0.

Genetic testing for LHX3 is available. Testing is considered confirmatory for diagnosis.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for non-acquired combined pituitary hormone deficiency with spine abnormalities.

6 publications have been identified in PubMed for non-acquired combined pituitary hormone deficiency with spine abnormalities. Research spans Review / Meta-Analysis (33%), Case Report / Case Series (33%), and Basic Science / Preclinical (33%).

Recent Publications

• SirDeshpande P (2025). [PMID: 41510421](https://pubmed.ncbi.nlm.nih.gov/41510421/). *Cureus*. [Review / Meta-Analysis]

• Ribeiro AC (2025). [PMID: 41561060](https://pubmed.ncbi.nlm.nih.gov/41561060/). *Front Endocrinol (Lausanne)*. [Case Report / Case Series]

• Fu D (2025). [PMID: 41291534](https://pubmed.ncbi.nlm.nih.gov/41291534/). *BMC Pediatr*. [Case Report / Case Series]

• Staels W (2024). [PMID: 39415786](https://pubmed.ncbi.nlm.nih.gov/39415786/). *Front Endocrinol (Lausanne)*. [Review / Meta-Analysis]

• Tailor K (2024). [PMID: 39850478](https://pubmed.ncbi.nlm.nih.gov/39850478/). *Front Endocrinol (Lausanne)*. [Basic Science / Preclinical]

• Siva Sankari G (2024). [PMID: 37286379](https://pubmed.ncbi.nlm.nih.gov/37286379/). *J Biomol Struct Dyn*. [Basic Science / Preclinical]