hrp0092p1-415 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology (2) | ESPE2019

Clinical and Molecular Characteristics of Russian Patients with 46,XY DSD due to NR5A1 Gene Mutations.

Kalinchenko Natalia , Petrov Vasiliy , Vasiliev Evgeniy , Tiulpakov Anatoly

Background: Steroidogenic factor 1 (encoded by the NR5A1gene) is a transcriptional regulator of genes involved in gonadal development and steroidogenesis. Mutations in NR5A1 have been identified among the most frequently genetic causes of disorders of sex development (DSD).Objective: To report the phenotype of 31 patients associated with 17 novel and 9 previously described NR5A1 sequence varian...

hrp0089p1-p193 | Multisystem Endocrine Disorders P1 | ESPE2018

McCune-Albright-Syndrome: Clinical and Genetic Study in a Large Cohort of Pediatric Patients

Makazan Nadezhda , Orlova Elizaveta , Kareva Maria , Kalinchenko Natalia , Kolodkina Anna , Zubkova Natalia , Vasiliev Evgeniy , Tiulpakov Anatoly , Peterkova Valentina

Background: McCune-Albright-Syndrome (MAS) is an extremely rare multisystem disorder that affects bones (fibrous dysplasia), skin (cafe-au-lait spots) and endocrine organs (hyperfunctioning endocrinopathies) and is caused by somatic mutations in GNAS gene.Materials and methods: We have evaluated 55 pediatric patients (44 girls (G) and 11 boys (B)) diagnosed in the period of 20 years. Mutation analyses using competitive allele-specific TaqMan PCR...