ESPE Abstracts

46,XY differences of sex development (46,XY DSD) comprise a very heterogeneous group of people amongst DSD. While some conditions are well characterized on the molecular level, e.g. androgen biosynthesis enzyme deficiency or DSD due to genetic variants in the androgen receptor, many 46,XY DSD patients lack a specific diagnosis, especially those people where gonadal development is affected. A specific diagnosis, however, is helpful to develop an individualized management progra...

Gonadal sex determination represents a unique model for studying cell fate decisions. However, a complete understanding of the different cell lineages forming the developing testis and ovary remains elusive. The widespread adoption of advanced sequencing technologies, such as scRNA-seq, has provided the field of developmental biology with an opportunity to discover previously unrecognized cell types, such as short-lived progenitors or rare cell lineages. By combining single ce...

The most common genetic abnormality found among men is the presence of an additional X-chromosome which causes Klinefelter syndrome (KS). KS has an estimated prevalence of 1.5/1000, but only ~40% receive the diagnosis, probably because the phenotype varies considerably. Men with KS often show eunuchoid body proportions, cognitive and psycho-social difficulties, and have an increased risk of developing cardiometabolic diseases. But the most persistent symptoms are small testes,...