Endocrine Abstracts

Introduction: Testicular tumours are very rare in children and usually present as painless enlargement of the testis. Germ cell tumours account for the majority of testicular tumours in young people and embryonal carcinomas are a common component of germ cell tumours.Case report: A 9.8 year old boy presented with the development of pubic and facial hair over a period of 2 years. He had a growth spurt (Height +3 SDS and bone age advanced to 14.8 years) an...

Introduction: Pathogenic RET mutations cause Multiple Endocrine Neoplasia type 2 (MEN2) and sixty-one have been classified according to their penetrance of MTC. However, this distinct pattern of genotype-phenotype presentations is not always precisely predictable. P.Val804Met, the most frequent mutation in RET, is currently thought to confer a low lifetime risk with later onset of MTC.Methodology: We present demographica...

Background and Demographics: Medullary thyroid carcinoma (MTC), in the context of Multiple Endocrine Neoplasia type 2 (MEN2), is caused by mutations in the RET proto-oncogene. For children with MEN2, both 2A and 2B subtypes, and advanced MTC, the RET tyrosine kinase (TK) pathway is a target for treatment with selpercatinib, a selective RET TK inhibitor (TKI). In the United Kingdom, 7 paediatric patients have been receiving named -patient, compassionate access ...