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Features include: Panhypopituitarism and Pituitary dwarfism.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Hormones | 1 | Pituitary dwarfism |
Growth and development | 1 | Pituitary dwarfism |
SOX3 function has not been fully characterized.
Panhypopituitarism, X-linked is associated with mutations in the SOX3 gene on chromosome X.
Genetic testing for SOX3 is available. Testing is considered confirmatory for diagnosis.
No clinical trials have been registered for panhypopituitarism, X-linked.
5 publications have been identified in PubMed for panhypopituitarism, X-linked. Research spans Basic Science / Preclinical (60%), Review / Meta-Analysis (20%), and Epidemiology / Natural History (20%).
Campos VC (2026). [PMID: 41528724](https://pubmed.ncbi.nlm.nih.gov/41528724/). *European journal of endocrinology*. [Basic Science / Preclinical]
De Dominicis C (2026). [PMID: 42029673](https://pubmed.ncbi.nlm.nih.gov/42029673/). *Endocr Rev*. [Review / Meta-Analysis]
Cai R (2025). [PMID: 40586822](https://pubmed.ncbi.nlm.nih.gov/40586822/). *Cellular and molecular life sciences : CMLS*. [Basic Science / Preclinical]
Shibata N (2024). [PMID: 38462462](https://pubmed.ncbi.nlm.nih.gov/38462462/). *Endocrine journal*. [Epidemiology / Natural History]
Van Gils J (2024). [PMID: 39407026](https://pubmed.ncbi.nlm.nih.gov/39407026/). *Communications biology*. [Basic Science / Preclinical]
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 12:49 AM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
AI-curated news mentioning panhypopituitarism, X-linked
Updated Mar 26, 2026
A recent study highlights the successful use of growth hormone (GH) treatment for hepatopulmonary syndrome in patients with panhypopituitarism-related advanced liver disease. This research could pave the way for new therapeutic approaches in managing this complex condition.