hrp0089p2-p244 | Growth & Syndromes P2 | ESPE2018

Familial Turner Syndrome: Case Report

Dacal Jimena Lopez , Villanueva Mercedes , Enacan Rosa , Brunetto Oscar , Figueroa Veronica

Introduction: Turner syndrome (TS) is one of the most common chromosomic disorders characterized by partial or complete lack of one of X chromosomes. It presents variable phenotypic spectrum. Isochromosome of long arm (iXq10) is the third most frequent karyotype and could be in mosaicism in 10-15% of TS. The phenotypic manifestation are similar than girls 45X. It is described a higher incidence of thyroid autoimmunity (even though is currently under discussion) and of diabetes...