ESPE Abstracts

We report two patients with 45,X/46,X, idic (Y) gonadal dysgenesis (GD) diagnosed at birth based on genotype-phenotype discordance identified in the routine clinical follow-up during early pregnancy. Genotypic sex, as determined by cell free DNA testing was 45 XO in the first patient while phenotypic sex was male. Second patient was found to have a 46, XX genotype with SRY detected through rhesus incompatibility screening, while phenotypic sex was female. Postnatal ka...

Background: T3-P-GD, a severe, rare disorder well known in adults, has not previously been described in children. It is characterized by persistently high serum fT3 concentration and normal, or even low, fT4 concentration during drug treatment. This condition is associated with very high titers of TRAb and large goiters, but its pathogenesis remains unclear. The recognition of this form of GD in children is of particular importance, as higher antithyroid ...