OBJECTIVES: The 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 METHODS: Clinical evaluation, biochemical analysis of 17-OHP, Testosterone, Androstenedione, DHEA-S, direct DNA sequencing and MLPA analyses. RESULTS: Eleven 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. CONCLUSION: The 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.
OBJECTIVES: The 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 METHODS: Clinical evaluation, biochemical analysis of 17-OHP, Testosterone, Androstenedione, DHEA-S, direct DNA sequencing and MLPA analyses. RESULTS: Eleven 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. CONCLUSION: The 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.
Authors: Stephen F Kingsmore; Darrell L Dinwiddie; Neil A Miller; Sarah E Soden; Carol J Saunders Journal: Expert Rev Mol Diagn Date: 2011-11 Impact factor: 5.225
Authors: N Skordis; C Shammas; A A P Phedonos; A Kyriakou; M Toumba; V Neocleous; L A Phylactou Journal: J Endocrinol Invest Date: 2014-12-07 Impact factor: 4.256
Authors: Vassos Neocleous; Pavlos Fanis; Meropi Toumba; Alexia A P Phedonos; Michalis Picolos; Elena Andreou; Tassos C Kyriakides; George A Tanteles; Christos Shammas; Leonidas A Phylactou; Nicos Skordis Journal: Int J Endocrinol Date: 2017-04-12 Impact factor: 3.257