TY - JOUR
T1 - Endocrine profile and phenotype-genotype correlation in unrelated patients with non-classical congenital adrenal hyperplasia
AU - Skordis, Nicos
AU - Shammas, Christos
AU - Efstathiou, Elisavet
AU - Kaffe, Katerina
AU - Neocleous, Vassos
AU - Phylactou, Leonidas A.
PY - 2011/8
Y1 - 2011/8
N2 - 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.
AB - 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.
KW - 17-OHP
KW - CYP21A2
KW - Increment4
KW - NC-CAH
KW - Testosterone
UR - http://www.scopus.com/inward/record.url?scp=79960313396&partnerID=8YFLogxK
U2 - 10.1016/j.clinbiochem.2011.05.013
DO - 10.1016/j.clinbiochem.2011.05.013
M3 - Article
C2 - 21635882
AN - SCOPUS:79960313396
SN - 0009-9120
VL - 44
SP - 959
EP - 963
JO - Clinical Biochemistry
JF - Clinical Biochemistry
IS - 12
ER -