Endocrine Abstracts

Multiple endocrine neoplasia type 1 (MEN1) is an inherited tumour syndrome characterized by the development of tumours of the parathyroid, anterior pituitary and pancreatic islets, etc. Heterozygous germ line mutations of MEN1 gene are responsible for the onset of MEN1. Here We reported totally 87 patients from 24 unrelated Chinese families associated with MEN1 and identified five novel mutations and several previously reported mutations. Furthermore, we detected a loss of het...

Background: Thyroid hormones are essential for the adequate growth and development of the kidney and also target changes in glomerular and tubular functions and electrolyte and water homeostasis. Hyperthyroidism leads to an increase in glomerular filtration rate (GFR) and renal blood flow with converse effects seen in hypothyroidism. In turn, the kidneys are responsible for the metabolism and elimination of thyroid hormones and thus renal disease can lead to s...

Background: Primary adrenal insufficiency (PAI) can be associated with significant morbidity in children of all ages, the most common cause being Congenital Adrenal Hyperplasia (CAH). Several other rare inherited causes of PAI have been identified over the years which lack diagnostic phenotypic or biochemical signs, leaving genetic testing as the only approach to make a definitive diagnosis. Our cohort involves >440 patients who presented with features of PAI – hypogl...