ESPE Abstracts

Background: While many causes of 46,XY disorders of sex development (DSD) have been elucidated, the mechanisms leading to 46,XX testicular or ovotesticular DSD are poorly understood. It has been hypothesized that both conditions may represent a phenotypic spectrum and that they might be caused by (different) mutations in the same genes.Methods: Whole exome sequencing was used to identify the molecular cause in ten unrelated patients with 46,XX (ovo)testi...

Background: Extensive and time-consuming hormonal and genetic work-up provides a genetic diagnosis in around 20% of 46,XY cases with ambiguous genitalia. It is currently unclear if such extensive screening might also be indicated in 46,XY newborns with milder undervirilization.Method: All 46,XY neonates and infants (n=32, EMS 2–12) referred to our pediatric endocrine service for atypical male genitalia in the period 2007–2013 were inve...

Background: Hetero- and homozygous mutations in Steroidogenic Factor1 (SF1, NR5A1) cause 46,XY and 46,XX disorders of sex development (DSD), azoospermia, and primary ovarian insufficiency. NR5A1 is also involved in embryonic spleen development, by transactivation of T-cell Leukemia Homeobox 1 (TLX1). Hypo- or asplenism have occasionally been observed in DSD patients with NR5A1 mutations.<p clas...