Impaired IGF1-GH axis and new therapeutic options in Alström Syndrome patients: a case series.

Cases Journal
Cristina Maria MihaiHancu Anca

Abstract

Defects of the primary cilium and its anchoring structure, the basal body, cause a number of human genetic disorders, collectively termed ciliopathies: primary ciliary dyskinesia, Bardet-Biedl syndrome, polycystic kidney and liver disease, nephronophthisis, Alström syndrome, Meckel-Gruber syndrome and some forms of retinal degeneration.Alström syndrome is an extremely rare, autosomal recessive genetic disorder characterized by a group of signs and symptoms including infantile onset dilated cardiomyopathy, blindness, hearing impairment/loss, obesity, diabetes, hepatic and renal dysfunction.Because adult growth hormone deficiency and Alström Syndrome share some clinical and metabolic features, we studied the GH-IGF1 axis, using MRI techniques and dynamic tests in 3 unrelated patients with Alström syndrome. The patients were hospitalized and the growth hormone stimulatory tests were made, as well as brain MRI. Insulin provocative test revealed a severe GH deficiency in these patients, defined by a peak response to insulin-induced hypoglycemia less than 3 ng/dl and IGF1 concentrations less than - 2SDS.We didn't find multiple pituitary hormone deficiency and we noticed only a severe GH deficiency in all three patients. The MRI study...Continue Reading

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Citations

Dec 26, 2015·Journal of Neuroradiology. Journal De Neuroradiologie·Valentina CittonRenzo Manara
Dec 8, 2010·Nature Reviews. Endocrinology·Dorothée Girard, Nikolai Petrovsky
Sep 23, 2020·Orphanet Journal of Rare Diseases·Natascia TahaniTarekegn Geberhiwot

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