Searchable abstracts of presentations at key conferences in endocrinology

ea0081p712 | Reproductive and Developmental Endocrinology | ECE2022

Phenotypic and genotypic heterogeneity of sexual development disorders 46, XY in the Tunisian population

Haj Kacem Akid Faten , Abdellahi Mohamed Ahmed Mohamed , Nessrine Dhieb , B Benrhouma , T Kammoun , M Hachicha , N Kallel , N Belguith , Mnif Mouna , Abid Mohamed

Introduction: Sexual disorders 46 XY DSD are responsible for a range of phenotypic disorders, ranging from an ambiguous phenotype to a complete female phenotype. In this context, we report a cohort of 22 46 XY patients with a female phenotype in order to establish a phenotype-genotype correlation.Results: The average age at diagnosis was 15.5 years (E: 7 days-33 years). The reason for consultation was primary amenorrhea in 16 cases (72.7%), sexual ambigu...