ESPE Abstracts

Background: Treatment options in extremely tall adolescents are limited. Bilateral epiphysiodesis has been reported to be a safe and effective method to reduce predicted final height. However, there is still limited data on final height and long-term safety.Objective: The aim was to assess the safety and efficacy of bilateral epiphysiodesis to reduce adult height in adolescent girls and boys with extreme tall stature.</p...

Introduction: Mammalian sex development is directly dependent on gonadal determination. Whole exome sequencing in patients with differences of sex development (DSD) allows the discovery of new factors involved in human sex development. One of these factors is NWD1 (NACHT and WD repeat domain containing 1) a cytosolic protein that seems to play a role in modulating androgen receptor signaling. We identified variants in the NWD1 gene in six und...

Abstract: Steroidogenic factor 1 (SF1)/"nuclear receptor subfamily 5 group A member 1" (NR5A1) is involved in adrenal and gonadal development, steroidogenesis and reproduction. The first patient, published in 1999 presented with a 46,XY difference of sex development (DSD) and adrenal insufficiency. The following year the first female patient with only adrenal insufficiency was described. Since then, heterozygous changes in SF-1/NR5A1 causing 46,XY DSD ...