ESPE Abstracts

Background: Silver-Russell syndrome (SRS) is a clinically and genetically heterogeneous syndrome, characterized by pre- and postnatal growth restriction among other features. Pathogenic variants in genes involved in the HMGA2-PLAG1-IGF2 pathway have been found to cause an SRS phenotype. Here we present four individuals with variants in the PLAG1 gene, exhibiting features of SRS. Two siblings of the same family inherited the PLAG1 variant from...

Introduction: Depending on the underlying diagnosis, Disorders of Sex Development (DSD) can be associated with an increased risk of germ cell cancers. To date, however, knowledge regarding the indications and timing of gonadectomy is lacking.Methods: The International-DSD (I-DSD) Registry was interrogated for anonymised information regarding the diagnosis, karyotype, sex of rearing and timing of gonadectomy, if undertaken, of all individuals of any karyo...

Background: Steroidogenic Factor 1 (NR5A1/SF-1) is essential for the development and function of human sex and steroid organs. Variants of SF-1 lead to a broad spectrum of phenotypes including adrenal insufficiency and differences of sex development (DSD), but data on the whole picture of phenotypes in individuals with SF-1 variants are currently lacking. We aim to investigate the phenotype of individuals with SF-1 variants in a large interna...