Endocrine profile and phenotype-genotype correlation in unrelated patients with non-classical congenital adrenal hyperplasia

Nicos Skordis, Christos Shammas, Elisavet Efstathiou, Katerina Kaffe, Vassos Neocleous, Leonidas A. Phylactou

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Pages (from-to)959-963
Number of pages5
JournalClinical Biochemistry
Volume44
Issue number12
DOIs
Publication statusPublished - Aug 2011

Keywords

  • 17-OHP
  • CYP21A2
  • Increment4
  • NC-CAH
  • Testosterone

Fingerprint

Dive into the research topics of 'Endocrine profile and phenotype-genotype correlation in unrelated patients with non-classical congenital adrenal hyperplasia'. Together they form a unique fingerprint.

Cite this