Endocrine Abstracts

Objectives: Amino acids (AA) plasma profile is associated with cardiometabolic diseases (CMD), predicts diabetes mellitus type 2 (DM2) and cardiovascular diseases (CVD) many years in advance. Metabolic syndrome (MS) defines the area of metabolic disturbances that precede DM2 and CVD development. The primary objective of the study was to examine the association between BCAA (branched chain amino acids), AAA (aromatic amino acids) profile and MS’s phenotype and to evaluate ...

Pheochromocytoma is a rare disorder of chromafin cells and can be incidentally found in 20% of adrenal masses. It can be malignant in upto 10% of the cases. Metastatic disease poses a great challenge and no definitive cure is yet established to treat these tumors.We report a case of 54-year-old male patient with past medical history of anxiety who presented with acute left sided abdominal pain to the urology department at Norfolk and Norwich University H...

Introduction: The human fetal adrenal has unique structure/function and produces hormones (DHEA, corticoids, catecholamines) that control fetal development, organ maturation and parturition. Maternal smoking during pregnancy has immediate (pre-term delivery, low birth weight) and long-term effects on the offspring (metabolic syndrome, disrupted adrenal function). We performed shotgun proteomics to characterise human fetal adrenal development and to explore adverse effects of m...

Introduction: Diabetic neuropathy affects up to 50% of the patients with long standing diabetes mellitus. The duration of diabetes and glycaemic control are correlated with the development of neuropathy. Distal symmetrical neuropathy results in numbness which facilitates ulcer development. Biothesiometry provides a quantitative assessment of neuropathy. Patients with threshold >25 V (grade II) are at a high risk of developing ulcers later.Aim: To det...

The establishment of pregnancy requires dynamic remodelling of the endometrium. Decidualization, a key part of this process, is characterised by differentiation of endometrial stromal fibroblasts (ESF) which secrete factors that regulate implantation and placental development. We recently discovered that ESF synthesise androgens which modulate the expression of endometrial receptivity and decidualization markers. Utilisation of the circulating androgen precursor DHEA within ta...

Introduction: Familial hypocalciuric hypercalcemia (FHH) is a benign condition characterized by asymptomatic hypercalcemia secondary to hypocalciuria. Affected patients have variable parathyroid hormone levels. It is caused by a loss-of-function mutation in the calcium-sensing receptor (CASR) gene. The occurrence of both FHH and primary hyperparathyroidism (PHPT) in the same patient has rarely been described. We report an interesting case.Case: ...

Introduction: Diabetes Insipidus (DI) is the inability of the kidneys to concentrate urine. This is due to decreased production of Anti-diuretic Hormone (ADH) from the posterior pituitary gland (cranial DI) or decreased tubular sensitivity to ADH (nephrogenic DI) or a mixed picture.Case: A 53-year-old male presented with several-months history of polyuria and polydipsia. He had constant thirst and had to void urine four times at night. He did not have di...

Introduction: A 22q11.2 deletion syndrome (velocardiofacial syndrome) is an autosomal dominant disorder affects various organs including the parathyroid gland. Because of its incomplete penetrance, multi-system affectation, and variable clinical presentation, the diagnosis is often delayed or never made. Delayed diagnosis may have significant impact on morbidity and mortality. We present a patient with a long history of clinical features of a syndrome which was diagnosed after...

Introduction/background: Hypothalamic Amenorrhea (HA), or stress-induced anovulation, is one of the most common causes of secondary amenorrhea (1,2) and accounts for the reproductive dysfunction seen in under nutrition, excessive exercise, sever emotional stress and chronic disease. From a teleological standpoint, in the face of nutritional or physical stress, it is adaptive for an organism to allocate energy resources for its own survival rather than the costly process of rep...

Introduction: Interferon and Ribavarin-based Hepatitis C therapy can induce or exacerbate autoimmune thyroid dysfunction with variable clinical presentation. Being female, having prior thyroid dysfunction and raised anti-thyroid peroxidase (anti-TPO) antibodies are risk factors. We have a protocol for managing thyroid dysfunction that occurs during hepatitis C antiviral therapy. We present four cases.Case 1: A 48 year old man diagnosed with hepatitis C i...