Patients Under Study

The promoter/5′-UTR of the MKRN3 gene was screened for variations in 73 index CPP girls referred to the Department of Molecular Genetics, Function and Therapy at the Cyprus Institute of Neurology and Genetics. Central precocious puberty in these girls was clinically evaluated by the development of secondary sexual characteristics before the age of 8 years, the basal and LHRH stimulated LH levels, advanced bone age, ovarian function on the pelvic ultrasound and normal central nervous system MRI. Mutations in the coding sequence of the MKRN3, KISS1, KISS1R, and DLK1 genes were previously excluded. Written informed consent was obtained from parents of all patients under the age of 16 that participated in the study. The project was approved by the Cyprus National Ethics Committee and all methods were performed in accordance with the relevant guidelines and regulations.