Endocrine Abstracts

VHL is an autosomal dominant familial cancer syndrome with renal, CNS and pancreato-biliary manifestations in addition to phaeochromocytoma (PC)/paraganglioma (PGL). Importantly, there is a partial genotype–phenotype correlation, with kindreds harboring deletions and mutations of the VHL gene leading to premature termination/truncation not manifesting PC/PGL. As genetic testing in PC/PGL moves from a research-focus into clinical service, knowledge and understanding...

Androgen-producing tumours of the adrenal are extremely rare. The androgen effects and malignancy potential can be detrimental in children. Adrenal adenomas are usually small, whereas carcinomas are larger and aggressive. We present the challenges in managing a female toddler with a large androgen secreting adrenal adenoma. A 22 months old 46 XX girl presented with features of hyperandrogenism but not of glucocorticoid or mineralocorticoid excess: tall stature, facial and pubi...