کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
1969729 | 1059779 | 2011 | 5 صفحه PDF | دانلود رایگان |
![عکس صفحه اول مقاله: Endocrine profile and phenotype-genotype correlation in unrelated patients with non-classical congenital adrenal hyperplasia Endocrine profile and phenotype-genotype correlation in unrelated patients with non-classical congenital adrenal hyperplasia](/preview/png/1969729.png)
ObjectivesThe aim of this study was to identify the molecular defect in a group of 37 unrelated Greek Cypriot patients affected by NC-CAH and evaluate the relationship between the genotype, phenotype and adrenal androgen levels.Design and methodsClinical evaluation, biochemical analysis of 17-OHP, Testosterone, Androstenedione, DHEA-S, direct DNA sequencing and MLPA analyses.ResultsEleven known mutations were identified with the p.V281L being the most predominant and observed in 68.9% of the alleles. There was no difference between the two genotypes (mild/mild and mild/severe) with clinical presentation, whereas a proportional relationship between the type of mutation and adrenal androgen levels was found.ConclusionThe frequency of the underlying genetic defect in our patients with NC-CAH is similar to that observed in most Mediterranean populations. Although the genotype cannot solely explain the clinical expression of NC-CAH, discrimination between mild and severe alleles is crucial in antenatal diagnosis and genetic counselling.
Journal: Clinical Biochemistry - Volume 44, Issue 12, August 2011, Pages 959–963