ESPE Abstracts

Background: Beckwith-Wiedemann syndrome (BWS) is a representative imprinting disorder with characteristic clinical features such as overgrowth, macroglossia, and abdominal wall defects. The BWS-responsible imprinted region is on chromosome 11p15.5. The CpGs within the H19/IGF2:IG-differentially methylated region (H19 -DMR) at the 11p15.5 imprinted region are maternally unmethylated and paternally methylated, and the H19- DMR function...

Context: Pseudohypoparathyroidism type 1B (PHP1B) caused by methylation defects of differentially methylated regions (DMRs) on the GNAS locus can be categorized into groups according to etiologies and methylation defect patterns of the DMRs. However, there are no reports evaluating the clinical differences in detail, such as diagnostic features at onset and Albright’s hereditary osteodystrophy (AHO) features, among the groups.<stro...

Background: Defects of MKRN3, DLK1, KISS1, and KISS1R and some disorders, such as Temple syndrome (TS14), cause central precocious puberty (CPP). Furthermore, MECP2 was reported as a causative gene for CPP in 2023. To our knowledge, comprehensive studies on (epi)genetic abnormalities, clinical features, and hormonal features in patients with CPP have not been reported.Methods: In 90 CP...