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This is an X-linked recessive retinal degenerative disease that leads to degeneration of the choriocapillaris, the retinal pigment epithelium, and the photoreceptor of the eye. Hypopituitarism is the decreased (hypo) secretion of one or more of the eight hormones normally produced by the pituitary gland at the base of the brain.
No clinical trials have been registered for choroideremia hypopituitarism.
100 publications have been identified in PubMed for choroideremia hypopituitarism. Kisho has analyzed 29 by research type. Research spans Review / Meta-Analysis (86%), Basic Science / Preclinical (10%), and Epidemiology / Natural History (3%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 25 | 86% |
Data assembled from 3 of 12 sources · Last updated Sep 19, 2026, 11:55 PM UTC
European rare disease database
Laboratory research |
3 |
10% |
Disease patterns and progression | 1 | 3% |
Yacoub MR (2025). [PMID: 40747632](https://pubmed.ncbi.nlm.nih.gov/40747632/). *Curr Opin Allergy Clin Immunol*. [Review / Meta-Analysis]
Paller AS (2025). [PMID: 40184496](https://pubmed.ncbi.nlm.nih.gov/40184496/). *Br J Dermatol*. [Review / Meta-Analysis]
Fann Marko R (2025). [PMID: 39987477](https://pubmed.ncbi.nlm.nih.gov/39987477/). *Harefuah*. [Review / Meta-Analysis]
Agrawal R (2025). [PMID: 40200630](https://pubmed.ncbi.nlm.nih.gov/40200630/). *J Assoc Physicians India*. [Review / Meta-Analysis]
Dotan A (2025). [PMID: 39931017](https://pubmed.ncbi.nlm.nih.gov/39931017/). *Harefuah*. [Review / Meta-Analysis]
Molteni R (2025). [PMID: 40195449](https://pubmed.ncbi.nlm.nih.gov/40195449/). *Nat Med*. [Basic Science / Preclinical]
Brokke KE (2025). [PMID: 40634186](https://pubmed.ncbi.nlm.nih.gov/40634186/). *Br J Anaesth*. [Review / Meta-Analysis]
Kaul A (2025). [PMID: 40915300](https://pubmed.ncbi.nlm.nih.gov/40915300/). *Lancet Rheumatol*. [Review / Meta-Analysis]
Li C (2025). [PMID: 40736845](https://pubmed.ncbi.nlm.nih.gov/40736845/). *Adv Exp Med Biol*. [Review / Meta-Analysis]
Sakuma H (2025). [PMID: 39143740](https://pubmed.ncbi.nlm.nih.gov/39143740/). *Dev Med Child Neurol*. [Review / Meta-Analysis]
AI-curated news mentioning choroideremia hypopituitarism
Updated Sep 16, 2026
A recent study highlights the role of somatic mosaicism and skewed X-chromosome inactivation in a female patient exhibiting a male-pattern choroideremia phenotype. This research could enhance understanding of the genetic mechanisms underlying choroideremia.
Recent research highlights metastatic large cell neuroendocrine carcinoma as a rare cause of hypopituitarism. This discovery may influence future diagnostic and treatment approaches for patients presenting with pituitary dysfunction.
A case report highlights an overlap syndrome between sarcoidosis and Sjögren's disease that presents as hypopituitarism. This study reviews existing literature, contributing to the understanding of these complex interactions.
Tarik's story highlights the challenges faced by individuals with rare germ cell tumors and hypopituitarism, emphasizing the importance of visibility for rare diseases. His journey serves as a reminder of the resilience and support within the rare disease community.