Previous issue | Volume 97 | ESPE2023

61st Annual ESPE (ESPE 2023)

The Hague, Netherlands
21 Sep 2023 - 23 Sep 2023

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The 61st ESPE Annual Meeting will now be taking place in The Hague, The Netherlands



hrp0097s1.1 | DSD | ESPE2023

Life-long care for people with 46,XY DSD

Hiort Olaf

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...

hrp0097s1.2 | DSD | ESPE2023

Studying neglected cell populations of the developing testis and their functions

Nef Serge

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...

hrp0097s1.3 | DSD | ESPE2023

Pathogenesis of testicular dysfunction in Klinefelter syndrome

Almstrup Kristian

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,...