Endocrine Abstracts

Rare disease patients are frequently seen in endocrine clinic. These patients are not only faced with serious health challenges resulting from their chronic conditions, but often struggle with significant psychosocial impact. Understanding unmet patient needs and activating patients to become engaged participants in managing their condition are essential aspects for improving long-term outcomes for rare/chronic disease patients. Using the example of congenital hypogonadotropic...

Biological clocks drive the physiology and behaviour of all organisms, from bacteria to humans. Much attention has focused on the circadian 24 h clock, and rapid progress made in defining key molecular components that regulate our rhythmic physiology. The circadian clock also drives a linked timing system that controls annual cycles of hormone secretion and metabolism, this is most evident in wild species, such as hibernating mammals. Annual cycles are also key feature of dome...

Improvements in cancer therapy have led to increasing numbers of patients surviving complex conditions. A multidisciplinary approach using new treatment modalities allow more aggressive therapy and a greater risk in the long-term to pituitary function. Damage to the hypothalamic pituitary axis has traditionally resulted from the underlying lesion, surgical intervention and radiotherapy. Traditional chemotherapeutic agents have not been implicated. The effect radiation has upon...

Defining the molecular genetics of diabetes gives new insight into the underlying aetiology. Recent work in Type 2 diabetes has suggested that the majority of genes to date result in beta-cell dysfunction but the impact of each polymorphism is relatively modest. In contrast patients with beta-cell monogenic diabetes have beta-cell dysfunction as the result of mutation of a single gene and these allow new insights into subtypes of beta-cell dysfunction and their therapeutic res...

Insulin is a crucial growth factor in utero as well as the key post natal determinant of blood glucose. Mutations in beta-cell genes altering insulin secretion therefore present with both altered birth weight and also hyper or hypoglycaemia. Recent advances in the genetics of neonatal diabetes and neonatal hyperinsulinism give key insights to beta-cell physiology as well as offering improved clinical management.In the genes encoding key beta-cell ...

BackgroundIn medical practice, there occurs an increasingly common pathology of various endocrine and not only these organs, which is known as multiple endocrine neoplasia – MEN syndrome, which, depending on the affected organs, is classified as MEN type 1, MEN type 2 and MEN type 3. Multiple endocrine neoplasia type 1 (MEN-1, Wermer syndrome) is a rare hereditary disease with an autosomal dominant type of inheritance characterised by high penetranc...

Background: The Wilms’ Tumour-1 (WT1) transcription factor is a critical regulator of embryonic gonadogenesis, but is also expressed by granulosa cells (GCs) in preantral follicles in the ovary after birth. Evidence from animal models suggests an important role for WT1 in regulating GC steroidogenesis and apoptosis. However, the role of WT1 in human GC biology has not been extensively explored.Aim: To investigate the role of WT1 in regulating human ...

A 42 year old lady initially presented in Poland with haematuria while she was on holiday over Christmas. She had some tests including an ultrasound of the kidney which showed a mass adjacent to the left kidney. The haematuria had settled and she was feeling well apart from non-specific back ache. She worked in a cake factory which she continued to do here in the UK. Her GP requested another ultrasound of her kidneys which showed a solid mass adjacent to the left kidney and a ...

Hypocalcaemia is one of the common metabolic abnormalities found in hospitalised patients. The most common cause of hypocalcaemia is Vitamin D deficiency. Others causes include hypoparathyroidism, chronic kidney disease and hypomagnesemia. Multiple factors can co-exist in the same patient. We present here a case of hypocalcaemia caused by multiple factors in the same patient. The patient we present probably had multiple factors contributing to hypocalcaemia. Our hypothesis is ...

Adult GH deficiency (AGHD) is a common sequela in patients with pituitary or brain tumors or in patients with a history of traumatic brain injury or cranial irradiation. In addition, approximately one third of children who were diagnosed with GH deficiency will remain GH deficient as adults. Since AGHD is characterized by diminished cardiovascular health, abnormal body composition, decreased muscle strength and aerobic capacity, poor quality of life, and increased mortality, i...