IMPE Abstracts

Background: Fetal growth restriction (FGR) has been suggested to cause persistent effects long after birth, namely fetal programming (FP). Although FP has drawn attention, a number of questions remain to be answered. One of the major questions is time dependency, i.e., whether the timing when FP occurs would affect the outcome after birth. Indeed, in neonates born small for gestational age (SGA), a consequence of FGR, the potential of catch-up growth which usu...

Introduction: The genetic polymorphisms in CYP21A2, the responsible gene of 21-hydroxylase deficiency (21OHD), are mostly generated by intragenic recombination with the adjacently located pseudogene, CYP21A1P, which shares 98% homologous sequences with CYP21A2. Gene conversion of the CYP21A2 region cannot be identified by usual PCR and Sanger sequencing, because of complicated cross-contamination of CYP21A1P. Next-g...

Background: Wilms Tumor 1 gene (WT1) is essential for gonadal development and testicular development. Pathogenic variants in its 1-3rd Zinc Finger (ZF) domains are one of the major causes of 46, XY disorders of sex development (DSD). Interestingly, the variants located on the 4th ZF were recently described to cause the reversed phenotype, 46, XX DSD. Due to its clinical phenotype, i.e., 46, XX testicular DSD, all reported nine patients we...