ea0073aep578 | Reproductive and Developmental Endocrinology | ECE2021
Dias Daniela
, Serra FIlipa
, Neves Carolina
, Real Mendes Leonor
, Nogueira Filomena
, Sapinho Inês
IntroductionTurner syndrome(TS) is characterized by complete/partial monosomy or by a structural defect in one of X chromosomes. Despite clinical hallmarks of short stature(SS) and gonadal dysgenesis(GD), phenotype is variable and related to underlying chromosomal pattern. Loss of the distal segment of the short arm of x-chromosome(Xp-), including haploinsufficiency of short stature homeobox-containing (SHOX) gene, is thought to be the main factor for gr...