Presentation of endocrine disease

Abstract

Endocrine glands produce biologically active hormones, which exert their action throughout the body, at sites distant from their origin. The main glands comprising the endocrine system are the pituitary, adrenals, gonads, thyroid, parathyroids and pancreas. Symptoms can present because of gland hypofunction (hormone deficiency) or gland hyperfunction (hormone excess). Widespread sites of hormone action throughout the body result in symptoms that are often generalized, diffuse and non-specific, presenting diagnostic challenges. A thorough yet focused clinical history is key to guide optimal investigation. A detailed family history is important to identify genetic endocrine disease, and medication can cause endocrine hypo- or hyperfunction. Endocrine disease may be first diagnosed by a new clinician with a fresh pair of eyes who stands back and notices an endocrine syndrome or puts together a constellation of different aspects of a presentation to make a unifying endocrine diagnosis. Increased access to imaging means that incidental thyroid, pituitary and adrenal lesions are often the initial reason for endocrine referral. Endocrine emergencies are common, particularly electrolyte imbalances and acute presentations of thyroid, pituitary and adrenal disease. Insulin, corticosteroids and desmopressin are life-sustaining medications; omitting them can lead to harm or death.