ESPE Abstracts

Abnormal expression of imprinted genes leads to imprinting disorders (IDs). Silver-Russell syndrome (SRS) and Prader-Willi syndrome (PWS) are representative IDs showing small for gestational age and short stature (SGA-SS).Temple syndrome (TS14) caused by abnormal gene expression at the 14q32.2 imprinted region, maternal uniparental disomy of chromosome 6 (UPD(6)mat), 16 (UPD(16)mat), and 20 (UPD(20)mat) are also associated with SGA-SS. Fuethermore, some copy number variations ...

Object: IGF2 is a paternally expressed gene involved in the development of Silver-Russell syndrome (SRS). Here, we report six Japanese patients with IGF2 mutations and compare clinical findings between patients with IGF2 mutations including literature cases and those with H19/IGF2:IG-DMR epimutations.Patients: We recruited six Japanese patients with IGF2 mutations. Th...

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...

Context: Maternal uniparental disomy for chromosome 20 (UPD(20)mat) resulting in aberrant expression of imprinted transcripts at the GNAS locus is a poorly characterized condition. Only 10 non-mosaic cases have been studied clinically. These patients presented with pre- and post-natal growth failure and feeding difficulties. The phenotype of these cases overlapped with that of Silver-Russell syndrome (SRS) and small for gestational age-short stature (SGA-SS); however, the etio...

Background: Overt neonatal hyperthyroidism is estimated to occur in 1–2% of offspring of pregnant women with Graves’ disease. Preterm delivery, enhancement of bone include advanced bone age, craniosynostosis, and microcephaly may be present. Ventriculomegaly and hydrocephalus may present rarely, and just three cases were reported previously. Craniosynostosis is a risk factor for delayed cerebral development, hydrocephalus, and psychomotor retardation. Craniolacunia (...

Introduction: Breast milk is a perfect food, but it can be deficient in vitamin D. In the Danish study, vitamin D was correlated in mothers, breast milk and not in breast milk and infants. We investigated the correlation between mother, breast milk, and infants vitamin D levels in Japan.Materials and Methods: This study included 84 pairs of mothers and 2-week-old infants born at the Iizuka Hospital and Vitamin D includin...