Background: Recently, mutations of makorin RING-finger protein 3 (MKRN3) have been identified in familial central precocious puberty (CPP). Serum levels of this protein decline before the pubertal onset in healthy girls and boys and are lower in patients with CPP compared to prepubertal matched pairs. The aim of the study is to investigate longitudinal changes in MKRN3 circulating levels in patients with CPP before and during GnRHa treatment.
Methods: We performed a longitudinal prospective study. We enrolled 15 patients with CPP aged 7.2 years (range: 28 years) and breast development onset <8 years. Serum values of MKRN3, gonadotropins, (17) estradiol were evaluated before and during treatment with GnRHa (at 6 and 12 months). MKRN3 was genotyped in CPP patients.
Results: No MKRN3 mutations were found among CPP patients. MKRN3 levels declined significantly form baseline to 6 months of GnRHa treatment (P: 0.0007) such as LH and FSH (P: 0.04 and P: 0.009) and for MKRN3 between 6 and 12 months of treatment (P: 0.003).
Conclusions: We showed that girls with CPP had a decline in peripheral levels of MKRN3 during GnRHa treatment. Our data suggest a suppression of MKRN3 by pharmacological continuous administration of GnRHa.
27 - 29 Sep 2018
European Society for Paediatric Endocrinology