ESPE Abstracts

Background: Acrodysostosis is a rare skeletal dysplasia with severe brachydactyly, facial dysostosis and nasal hypoplasia. Some patients show hormone resistance whose phenotypes are similar to pseudohypoparathyroidism (PHP). In 2012, PRKAR1A gene was identified as one of the responsible genes of Acrodysostosis with hormonal resistance (ADOHR). Generally, brachydactyly is severe and hormone resistance is mild in Acrodysostosis patients.Objective and hypot...

Background: The common phenotype caused by NR5A1 mutations of 46,XY is gonadal dysgenesis without adrenal deficiency. Preserved fertility of the affected males was described in two patients with different mutations. No functional analysis of these two mutations has been done. Here we report brothers with isolated hypospadias who carries a novel heterozygous mutation of c.910G>A, E304K in NR5A1 gene. Their asymptomatic father carries the same nucleotide ch...