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Disturbed adrenocortical function in cerebro-hepato-renal syndrome of Zellweger
Insights
Patients with Zellweger syndrome exhibit an impaired adrenal stress response, lacking cortisol elevation during ACTH tests. This adrenal insufficiency may explain sudden deaths, necessitating corticosteroid administration during stress.
Area of Science:
- Endocrinology
- Genetics
- Pediatrics
Background:
- Cerebro-hepato-renal syndrome of Zellweger is a severe genetic disorder.
- Adrenal insufficiency is a potential complication in genetic metabolic disorders.
Purpose of the Study:
- To investigate the adrenal response to ACTH stimulation in patients with Zellweger syndrome.
- To explore the link between adrenal function and sudden death in Zellweger syndrome.
Main Methods:
- ACTH stimulation test administered to six patients with Zellweger syndrome.
- Comparison of cortisol response between patients and control subjects.
Main Results:
- Patients with Zellweger syndrome showed no significant cortisol increase after ACTH stimulation.
- Absence of clinical symptoms of adrenal insufficiency despite the abnormal test results.
- A resemblance was noted between Zellweger syndrome and neonatal adrenoleukodystrophy.
Conclusions:
- Zellweger syndrome is associated with an impaired adrenal stress response.
- Adrenal insufficiency may contribute to sudden mortality in Zellweger syndrome.
- Corticosteroid supplementation is recommended for patients during stress events like infections.
Abstract:
An ACTH stimulation test was performed in six patients suffering from the cerebro-hepato-renal syndrome of Zellweger. In contrast to controls, no rise in cortisol was observed. None of these patients showed clinical symptoms of adrenal insufficiency. The sudden death, which occurs in this syndrome, can probably be explained by an impaired stress reaction. In stress situations, such as respiratory infection, corticosteroids should be administered to these patients. A striking resemblance exists between the Zwellweger syndrome and the neonatal form of adrenoleukodystrophy.