PRECOCIOUS PUBERTY: MOLECULAR GENETICS, MODERN APPROACHES TO THE DIAGNOSIS AND TREATMENT

Аннотация

The article is devoted to the basic molecular-genetic mechanisms and novel approaches to the diagnosis and management of the development of central precocious puberty. Precocious puberty is the appearance of the secondary sexual characteristics before the age years in girls and before 9 years in boys. Prevalence varies greatly by study. The incidence is generally thought to be 1 in 5000-10000 children, but some countries around the world have seen an increase in the incidence, including the United States, Spain, France, Denmark, Korea and China since 1990. Complex interactions with genetic, nutritional and environmental factors play a decisive role in determining the timing of puberty. To date, mutations in four genes (KISS1, KISS1R, MKRN3, DLK1) have been confirmed as causal variants leading to central idiopathic Precocious Puberty.