Hereditary endocrinopathies in Cyprus exhibit evidence of a founder effect and display the influence of past migration patterns. The genetic frequency and mutation pattern of specific Disorder of Sex Development (DSD) which is classified as 46, XX DSD or 46, XY DSD and the Non-Classic form of Congenital Adrenal Hyperplasia (NC-CAH) outline a type of genetic drift.
The high prevalence of the NC-CAH p.V281L mutation but also the rarity of CAH large lesions present genetic diversity similar to that observed in the Middle Eastern countries. In addition, the high frequency of the 5-alpha Steroid Reductase Deficiency (5αSRD) IVS1-2A>G mutation and the carrier frequency of 17-beta Hydroxysteroid Dehydrogenase 3 (17β-HSD-3) p.R80Q mutation are both good examples of founder effect. The mutation p.R80Q can be considered as a founder mutation even though it has been identified in patients of Dutch, Brazilian and Portuguese origin. This has led to the speculation that it has a Phoenician origin. Phoenicians, as ancient traders, migrated around 750 B.C from present day Syria, Lebanon and Israel to Portugal, Spain and to nearby Cyprus. While the 5αSRD IVS1-2A>G mutation has already been reported in isolated Turkish patients, it seems to predominate the affected patients.
Prof Skordis work portrays clearly, through specific endocrine genetic disorders, the past migration trends in Cyprus that shaped the present day gene pool of the Greek-Cypriot population.