Impaired IGF1-GH Axis and New Therapeutic Options in Alström Syndrome Patients: A Case Series
Author Information
Author(s): Mihai Cristina Maria, Catrinoiu Doina, Toringhibel Marius, Stoicescu Ramona Mihaela, Ticuta Negreanu-Pirjol, Anca Hancu
Primary Institution: "Ovidius" University Constanta, Faculty of Medicine, Constanta County Emergency Hospital
Hypothesis
Does growth hormone deficiency contribute to the clinical features of Alström syndrome?
Conclusion
Recombinant growth hormone therapy may improve body composition and insulin resistance in Alström syndrome patients.
Supporting Evidence
- All three patients exhibited severe growth hormone deficiency.
- One patient showed significant improvement after receiving recombinant growth hormone therapy.
- Clinical variability was observed among the patients, characteristic of ciliopathies.
Takeaway
This study looked at three patients with a rare condition called Alström syndrome and found that giving them growth hormone helped improve their health.
Methodology
The study evaluated the GH-IGF1 axis using MRI techniques and dynamic tests in three patients with Alström syndrome.
Limitations
The study is limited by the small sample size and the need for further research to confirm findings.
Participant Demographics
Three patients with Alström syndrome, including two females and one male, aged 13 to 20 years.
Digital Object Identifier (DOI)
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