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...

Background: Heterozygous loss-of-function mutations of FGFR1 are known to cause Kallmann syndrome (KS) and isolated hypogonadotropic hypogonadism (IHH). Furthermore, recent studies have also indicated that heterozygous loss-of-function mutations lead to IHH and split hand/foot malformation (SHFM).Objective and hypotheses: The objective of this study was to examine FGFR1 in three Japanese patients with IHH and SHFM.Method: ...

Background: Maternal uniparental disomy of chromosome 16 (UPD(16)mat) is defined as the presence of two homologous chromosomes 16 inherited from only the mother. To our knowledge, 49 live-born UPD(16)mat patients without chromosomal abnormalities other than that in chromosome 16 have been reported. UPD(16)mat patients presented with non-specific clinical features such as preterm birth, growth retardation, congenital heart diseases (CHDs) and hypospadias. Silver-Russell syndrom...

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...