ESPE Abstracts

Exposure to abdominal radiation for childhood cancer has been associated with an increased risk of gastrointestinal polyps and neoplasia. These patients have a similar risk of developing colorectal cancer (CRC) as those with two or more first-degree relatives with CRC. There has been an inconsistency in clinical practice guidelines, partly due to limited evidence that treatment-associated colorectal cancer has a preceding screen-detectable phase. The previous recommendation fr...

Thyroid cancer is the most common secondary malignancy for survivors of childhood cancer, with radiation exposure before age 18 being the most significant risk factor. Current guidelines from the Children’s Oncology Group recommend yearly physical examination to palpate for thyroid nodules. Whilst other societies recommend periodic thyroid ultrasound, further evaluation with fine needle aspirate is typically not considered for nodules less than 10mm in diameter. We descr...

In the typical developing gonad, cells with XY chromosomes become masculinised into Sertoli cells, leading to the development of the bipotential gonad into testes. Disruptions to sex determining genes and transcription factors, or XX chromosome complement, typically leads to failure of Sertoli cell development. In the study of sex determination, upregulation of specific genes in animal models has sucessfully led to male factor expression in XX cells in some animals but not in ...

Our understanding of the genomic basis of Differences of Sex Development (DSD) remains incomplete, despite significant research effort and technological development in unravelling the complex network of genes that regulate gonadal development. While use of massively parallel sequencing has resulted in higher rates of identification of pathogenic or likely pathogenic variants, an accurate diagnosis is lacking for many individuals with DSD. Variants in PPP1R12A (protein...