Endocrine Abstracts

Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia (DIPNECH) is a relatively recent and rare disease, frequently misdiagnosed. It is characterized as a generalized proliferation of pulmonary neuroendocrine cells and is recognized as a precursor lesion for pulmonary neuroendocrine tumors, although the risk of progression to malignancy is considered low. Here we report a patient with ectopic ACTH-dependent Cushing’s syndrome due to metastatic lung carcinoid tumors...

Introduction: Psoriasis is a chronic skin disease with a prevalence of 0.6 to 4.8%. Among the possible treatments, we highlight topic corticosteroids that can cause not only different local side effects (skin fragility and atrophy, striae, purpura, acne, telangiectasia, hypertrichosis) but also systemic side effects, including diabetes mellitus (DM), hypertension (HT), Cushing’s syndrome and hypothalamic–pituitary–adrenal (HHA) axis suppression.<p class="abs...

Liver-expressed antimicrobial peptide 2 (LEAP-2) has been recently characterized as an endogenous GHSR1a antagonist. LEAP-2 is produced mainly in the liver, and it was described that an acute ghrelin administration blocks food intake, GH release and normalize glucose levels during chronic caloric restriction. For this reason, it could be considered as a key endocrine factor in the regulation of systemic energy metabolism. Nevertheless, the exact mechanism of action is still un...

Introduction: Primary aldosteronism (PA) is currently believed to be the most frequent form of secondary endocrine hypertension, accounting for 5–10% of all hypertensive patients. After confirming the diagnosis, adrenal venous sampling (AVS) is considered the most accurate means of distinguishing between unilateral and bilateral adrenal disease.Case report: Female patient, 36 years-old, referred to an Endocrinology appointment in May 2009 due to lef...

Adrenocortical carcinoma (ACC) is a rare tumour with a poor prognosis. There are a lack of successful targeted therapies and an urgent need to explore novel therapeutic avenues for ACC 1. In other cancer types, there has been some success in exploiting lipid metabolism. One example is manipulating intracellular cholesterol levels to starve cancer cells. 2 Another possibility is targeting the ligand-dependent nuclear receptors Liver-X receptors (LXRab), wh...

Introduction: Bardet-Biedl Syndrome is a rare autosomal recessive disease characterized by defects in multiple organ systems, presenting with diverse clinical manifestations such as retinopathy, polydactyly, obesity, intellectual developmental disorders, hypogonadism, renal dysfunction, among others.Clinical Case 1: 49-years-old female, case index, followed multidisciplinary since the age of three due to progressive night blindness from generalized retin...

Introduction: Neuroendocrine Tumors of the Colon are often aggressive and metastatic at diagnosis. The diagnosis is histologicaly obtained through immunohistochemical evaluation of biopsy specimens/metastases, with positive staining for Chromogranin A and Synaptophysin.Case Report: A 54-year-old independent patient with Type 1 Diabetes, leading to diabetic nephropathy, underwent a renal transplant followed by graft failure and is currently on hemodialysi...

Introduction: Intra-thyroid metastases are infrequent, comprising only 1-3% of all thyroid malignancies. Renal cell carcinoma, particularly of the clear cell type (CCRC), stands out as the predominant kidney malignancy and the most common primary source of intra-thyroid metastases, often manifesting several years post-diagnosis. This report highlights two cases of CCRC metastasis to the thyroid, both featuring deceptive cytological findings.Case 1: A 60-...

Introduction: The anatomical and physiological changes induced by bariatric surgery (BS) can significantly impact the absorption and pharmacokinetics of orally administered medication. In particular, levothyroxine (LT4) dosage, given its dependence on patient’s weight and gastric pH for optimal absorption, is expected to change following BS. However, the literature is not unanimous and there is a void of longer-term studies. We aimed to compare LT4 dosage 4 years followin...

Background: Alstrom syndrome (AS; OMIM#203800) is a rare (<1:100.000) autosomal recessive monogenic ciliopathy and it is caused by mutations in ALMS1 (chromosome 2p13), which function is still unknown. AS is characterized by multisystemic fibrosis, cone-rod retinal dystrophy leading to blindness, hearing loss, obesity, type 2 diabetes mellitus (T2DM), dilated cardiomyopathy, and progressive hepatic and renal failure. Most patients present neurological issue on developmenta...