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Updated: Jun 1, 2026

A Hyperandrogenic Mouse Model to Study Polycystic Ovary Syndrome
Published on: October 2, 2018
Endocrine profile and phenotype-genotype correlation in unrelated patients with non-classical congenital adrenal
Nicos Skordis1, Christos Shammas, Elisavet Efstathiou
1Paediatric Endocrine Unit, Makarios III, Hospital, Nicosia, Cyprus. nskordis@cytanet.com.cy
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.
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