Endocrine Abstracts

Background: SSTR substypes are collectively expressed in the majority of NENs. However, SSTR subtype expression is not routinely assessed for clinical decision-making, including patients eligible for targeted radionucleotide therapy. Elucidating the landscape of SSTR subtypes in context of molecular profiles for low-grade (LG-) and high-grade NENs (HG-NENs) provides an opportunity to better tailor targeted therapy. Here, we leverage the ability of transcriptomics to predict NE...

Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder caused by deficiency of 21-hydroxylase (CYP21), which inhibits adrenal synthesis of cortisol and aldosterone. The reduced cortisol synthesis leads to increased ACTH secretion, which results in adrenal gland hyperplasia, accumulation of steroid precursors and excessive adrenal androgen production, causing pseudoprecocious puberty. The study aimed at determining variance in two SNPs, I172N and V281L, of CYP2...