Searchable abstracts of presentations at key conferences in endocrinology

ea0090ep915 | Reproductive and Developmental Endocrinology | ECE2023

Genetic bases of hereditary gonadotropin-dependent precocious puberty

Kolodkina Anna , Khabibullina Dina , Bezlepkina Olga , Peterkova Valentina

Background: Nowadays, single nucleotide polymorphisms in genes KISS1, KISS1R, MKRN3, DLK1 have been described as the leading cause of precocious hypothalamic-pituitary axis activation in children. Genetic testing in patients with hereditary forms of precocious puberty (PP) can expand our knowledge in underlying molecular mechanisms of the disease. The diagnosis of genetic bases is necessary for genetic counselling.Aim: To access clinical charact...