Evaluation of patients consulting child endocrine policlinic with precocious puberty complaint in the last 15 years

Aim: It is aimed to examine of demographic, anthropometric and laboratory characteristics, the effect of treatment on final height in patients with central precocious puberty, the presence of gene mutation of macular ring finger protein 3 (MKRN3) in patients with precocious puberty and patients with central precocious puberty and premature thelarche for patients accepted in the last 15 years to Çukurova University Faculty of Medicine Department of Paediatric Endocrinology. Material and Method: The medical file records of patients, who has consulted for precocious puberty between January 2002 and December 2017 to Paediatric Endocrinology Department, are recorded with details containing the information on start age of complaint, age of diagnosis, patient's weight and height, body mass index, puberty examination details, bone age and heights of parents. Upon completion of treatment of the patients with central precocious puberty, their weight, weight SDS, height, height SDS and final height of details were evaluated. In addition, genetic analysis was also performed on 40 patients with diagnosed precocious central pubertal disease to look for possible mutations in the MKRN3 gene. Findings: Out of 70 diagnosed precocious central pubertal cases, 62 (88.5%) were female and 8 cases (11.5%) were male. Mean age of diagnosed central precocious puberty patients was found to be 7.6 years. In our study, amongst the female patients who were followed up with central precocious puberty diagnosis, there were 2 cases of opere astrocytoma, 3 cases of hydrocephaly, 1 case of pituitary pars intermedia cyst, 1 case of pseudotumor cerebri. Amongst the male patients, only 1 patient was diagnosed with hydrocephaly. The final mean height of patients who reached the final height after treatment was 158,8±5,4. No meaningful difference is observed between the final height and target height. The final height of the patients was significantly higher than the demanded height. There was no difference in standard deviations of weights of patients before and after the treatment. Amongst the 22 patients who were underwent gene analysis, there was no MKRN3 gene mutation at patients, however 11 patients were detected with heterozygote rs2239669 variation and 1 patient was detected with homozygous rs2239669. Conclusion: This study shows that final height can reach the target height by treatment of the central precocious puberty patients with GnRH analogous used for stopping puberty. MKRN3 gene mutation was not seen in our patients who underwent gene analysis, and in these patients rs2239669 variant was observed, which is expected to be common and harmless in the society.