ESPE Abstracts

Background: Nephrogenic diabetes insipidus (NDI) is a disorder characterized by renal resistance to the antidiuretic effect of AVP. Affected patients are exhibiting symptoms as polyuria and polydipsia. Approximately 90% of congenital NDI are inherited in an X-linked recessive manner and caused by mutations of arginine vasopressin type 2 receptor (AVPR2) gene.Objective and hypotheses: An 8-year-old Japanese boy was referred to our hospital for nocturnal e...

Loss of methylation (LOM) at GNAS-A/B:TSS-differentially methylated regions (DMRs) in the GNAS locus is observed in pseudohypoparathyroidism type 1B (PHP1B). Many PHP1B cases are sporadic, but autosomal dominant-PHP1B has a deletion involving NESP55 expressed from the maternal allele or STX16 located upstream of the GNAS locus on the maternal allele. We report the possible first familial PHP1B cases with retrotransposon insertion in the GNAS locus on the maternal allele. To ou...