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

Mihai CM, Catrinoiu D, Toringhibel M, Stoicescu RM, Ticuta NP, Anca H - Cases J (2009)

Bottom Line: 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.Future studies are needed to assses if the substitution therapy with Recombinant Growth hormone is cost-effective and without risk in such patients with Alström Syndrome and severe insulin resistance, despite our good results in one patient.

View Article: PubMed Central - HTML - PubMed

Affiliation: "Ovidius" University Constanta, Faculty of Medicine, Constanta County Emergency Hospital, 145 Tomis Blvd, 900591, Constanta, Romania. cristina2603@yahoo.com.

ABSTRACT

Background: 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.

Case presentation: 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 of the diencephalic and pituitary region was suggestive for the diagnosis of empty sella in one patient.One patient received Recombinant-GH replacement for one year with very good results, one underwent a gastric sleeve with a satisfactory outcome, one patient died due to the progression of the cardiac myopathy.

Conclusion: Future studies are needed to assses if the substitution therapy with Recombinant Growth hormone is cost-effective and without risk in such patients with Alström Syndrome and severe insulin resistance, despite our good results in one patient. Also, careful clinical and genetic studies can contribute to a better understanding of the evolution after different therapeutical attempt in the complex disorders such as Alström Syndrome.

No MeSH data available.


Related in: MedlinePlus

Patient 1. Magnetic resonance imaging – morphologic appearance suggesting “empty sella”.
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Figure 2: Patient 1. Magnetic resonance imaging – morphologic appearance suggesting “empty sella”.

Mentions: We studied the GH-IGF1 axis, using MRI techniques and dynamic tests (insulin tolerance test). The MRI study of the diencephalic and pituitary region was suggestive for the diagnosis of empty sella (Figure 2). We found normal TSH (Thyroid Stimulating Hormone), fT3 (free triiodothyronine), fT4 (free thyroxine), and negative results for anti-thyroid auto-antibodies. Growth hormone stimulatory tests were made and insulin provocative test revealed a severe GH deficiency in this patient, defined by a peak response to insulin-induced hypoglycemia less than 3 ng/dl and IGF1 concentrations less than -2SDS.


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

Mihai CM, Catrinoiu D, Toringhibel M, Stoicescu RM, Ticuta NP, Anca H - Cases J (2009)

Patient 1. Magnetic resonance imaging – morphologic appearance suggesting “empty sella”.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC2648950&req=5

Figure 2: Patient 1. Magnetic resonance imaging – morphologic appearance suggesting “empty sella”.
Mentions: We studied the GH-IGF1 axis, using MRI techniques and dynamic tests (insulin tolerance test). The MRI study of the diencephalic and pituitary region was suggestive for the diagnosis of empty sella (Figure 2). We found normal TSH (Thyroid Stimulating Hormone), fT3 (free triiodothyronine), fT4 (free thyroxine), and negative results for anti-thyroid auto-antibodies. Growth hormone stimulatory tests were made and insulin provocative test revealed a severe GH deficiency in this patient, defined by a peak response to insulin-induced hypoglycemia less than 3 ng/dl and IGF1 concentrations less than -2SDS.

Bottom Line: 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.Future studies are needed to assses if the substitution therapy with Recombinant Growth hormone is cost-effective and without risk in such patients with Alström Syndrome and severe insulin resistance, despite our good results in one patient.

View Article: PubMed Central - HTML - PubMed

Affiliation: "Ovidius" University Constanta, Faculty of Medicine, Constanta County Emergency Hospital, 145 Tomis Blvd, 900591, Constanta, Romania. cristina2603@yahoo.com.

ABSTRACT

Background: 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.

Case presentation: 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 of the diencephalic and pituitary region was suggestive for the diagnosis of empty sella in one patient.One patient received Recombinant-GH replacement for one year with very good results, one underwent a gastric sleeve with a satisfactory outcome, one patient died due to the progression of the cardiac myopathy.

Conclusion: Future studies are needed to assses if the substitution therapy with Recombinant Growth hormone is cost-effective and without risk in such patients with Alström Syndrome and severe insulin resistance, despite our good results in one patient. Also, careful clinical and genetic studies can contribute to a better understanding of the evolution after different therapeutical attempt in the complex disorders such as Alström Syndrome.

No MeSH data available.


Related in: MedlinePlus