ESPE Abstracts

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The widespread availability of relatively inexpensive and rapidly evolving genetic screening by whole exome sequencing (WES) has transformed diagnosis in DSD. WES has identified many new genetic causes of DSD (e.g. ZFPM2, NR2F2, ZNRF3), several of which would not have been possible by classic candidate gene approaches (e.g. DHX37 or SART3). However, despite these advances, pathogenic variants in each gene affect only a comparatively...

Hypospadias is a malformation in boys when the urethra opens somewhere along the penis, in the scrotum or in the perineum. The condition is operated with different methods according to the severity. The cause is complex, but early growth restriction and genetic factors are important. Over the last decades different studies have shown that having hypospadias affects life in many ways also later in life due to both underlying risk factors, the surgery and affected sexuality. The...