title: Endocrine profile and phenotype-genotype correlation in unrelated patients with non-classical congenital adrenal hyperplasia.
abstract: OBJECTIVE
  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.
  
  
  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.
  
  
  CONCLUSIONS
  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.affiliation: Paediatric Endocrine Unit, Makarios III, Hospital, Nicosia, Cyprus. nskordis@cytanet.com.cy
authors.forename: Nicos
authors.initials: N
authors.lastname: Skordis
authors.forename: Christos
authors.initials: C
authors.lastname: Shammas
authors.forename: Elisavet
authors.initials: E
authors.lastname: Efstathiou
authors.forename: Katerina
authors.initials: K
authors.lastname: Kaffe
authors.forename: Vassos
authors.initials: V
authors.lastname: Neocleous
authors.forename: Leonidas A
authors.initials: LA
authors.lastname: Phylactou
mesh_terms: D019326:17-alpha-Hydroxyprogesterone / Q000097:blood; D000293:Adolescent; D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis / Q000235:genetics*; D000328:Adult; D000735:Androstenedione / Q000097:blood; D002648:Child; D003535:Cyprus; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D006239:Haplotypes; D006801:Humans; D008297:Male; D009154:Mutation; D012720:Severity of Illness Index; D013255:Steroid 21-Hydroxylase / Q000235:genetics*; D013739:Testosterone / Q000097:blood
chemical_list: D013739:Testosterone; D000735:Androstenedione; D019326:17-alpha-Hydroxyprogesterone; D013255:Steroid 21-Hydroxylase