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[Glucocorticoid hypofunction in myotonic dystrophy].
| Content Provider | Semantic Scholar |
|---|---|
| Author | Forga, Luis Anda, Emma Basterra, F. J. Goñi, María José Iriarte Pineda, Fernando J. |
| Copyright Year | 2007 |
| Abstract | INTRODUCTION Myotonic dystrophy (DM1) is an autosomal dominant disorder whose genetic defect consists of the amplification of an unstable CTG trinucleotide repeat in the 3' untranslated region of the dystrophia myotonica protein kinase gene (DMPK). This is a multi-systemic disease with a well-known endocrinological repercussion. With respect to the adrenal function variable results have been described, although lately they are interpreted as indicators of a hyperactivity of the hypothalamic-pituitary-adrenal (HPA) axis. MATERIAL AND METHODS Twenty-five patients (13 men and 12 women) with DM1 were recruited. They were analysed for: basal cortisol and ACTH, stimulus test with 0.25 mg of ACTH for cortisol and CRH test for cortisol and ACTH. Similarly, the degree of expansion of CTG was evaluated by Southern blot and PCR. Twenty-five healthy individuals, comparable by age and sex, were studied as a control group; the CRH test was carried out on 11 of them. RESULT One patient was diagnosed with primary non-autoimmune adrenal failure. In the rest of the cases there were no differences between the basal ACTH of patients and controls, and the cortisol response to ACTH was normal. The patients showed a lower level of basal cortisol (p<0.01) and also showed, following stimulation with CRH, a lower cortisol response (p<0.05) with higher average values of ACTH. CONCLUSIONS Our data differs from the latest publications and point to an adrenal hypofunction due to lack of efficacy of the ACTH on its receptor or at the post-receptor level. We suggest that the etiology might be related to the underlying defect in the gene that codifies DMPK. |
| Starting Page | 199 |
| Ending Page | 205 |
| Page Count | 7 |
| File Format | PDF HTM / HTML |
| Alternate Webpage(s) | http://scielo.isciii.es/pdf/asisna/v30n2/original2.pdf |
| PubMed reference number | 17898815v1 |
| Volume Number | 30 |
| Issue Number | 2 |
| Journal | Anales del sistema sanitario de Navarra |
| Language | English |
| Access Restriction | Open |
| Subject Keyword | 3' Untranslated Regions Adrenal Glands Adrenal gland hypofunction Autosomal Dominant Disorder Autosomal dominant inheritance Axis vertebra Corticotropin Releasing Hormone Measurement Corticotropin-Releasing Hormone DMPK gene Hydrocortisone Hyperactive behavior MYOTONIC DYSTROPHY 1 Muscular Dystrophy, Duchenne Numerous Patients Systemic disease Trinucleotide Repeats Unstable Medical Device Problem |
| Content Type | Text |
| Resource Type | Article |
