Endocrine Abstracts

In humans, adrenarche represents a unique endocrine process manifest by the development of the adrenal zonal reticularis and its production of a group of steroids often called the ‘adrenal androgens’. The physiologic manifestations of adrenarche are reflected by enhanced dehydroepiandrosterone sulfate (DHEA-S) production and the onset of adult body odor, mild acne and axillary and/or pubic hair. Clinically, the early rise in adrenal androgens is termed premature adre...

The melanocortin-2-receptor (MC(2) receptor), also known as the ACTH receptor, is a critical component of the hypothalamic-pituitary-adrenal axis. The importance of MC(2) receptor in adrenal physiology is exemplified by the condition familial glucocorticoid deficiency (FGD), a potentially fatal disease characterised by isolated cortisol deficiency. MC(2) receptor mutations cause ~25% of cases. The discovery of a MC(2) receptor accessory protein MRAP, mutations of which account...

The advent of new genetic techniques that allow for high-throughput sequencing in surgical tumour tissues and germline DNA has boosted progress in many fields of biomedical research. The technique has been proven to be particularly fruitful in the area of endocrine tumours with many new driver genes being identified over the last few years that are involved in cell growth but more importantly in hormonal autonomy. For the adrenal gland examples account for aldosterone and cort...