Endocrine Abstracts

In overt or subclinical ACTH-independant Cushing’s syndrome (CS), aberrant adrenal receptors may control cortisol secretion.We systematically studied the 20 patients with adrenal incidentaloma screened in our department for illegitimate adrenal receptors between 2000 and 2006. We investigated plasma cortisol level during successive stimulation tests performed while dexamethasone was given orally every 8 h (upright posture, meal, hypothalamic hormone...

Oestrogen receptor (ER) activity has a wide spectrum of functions in the human body, including the development, growth and maintenance of the reproductive system. There are two ER subtypes, ERα and ERβ. The latter exists as multiple splice variants (ERβ1, ERβ2 and ERβ5) some of which lack a steroid ligand-binding domain. ERs act as steroid-ligand activated transcription factors. Epidermal growth factor (EGF) acting via the MAP kinase pathway has been s...

Bone metabolism can be measured indirectly with specific biochemical markers. Desoxypyridinolin (DPD) is a derivate of hydroxypyridinium, which is discharged by bone resorption and is totally excreted urinary. A further marker of collagen resorption is the c-terminal telopeptide of collagen type I, which is liberated to blood circulation within the bone’s degradation and undergoes renal elimination. The aim of our investigation was to look after a correlation of these par...

Steroid receptors are members of a family of ligand-activated transcription factors that mediate tissue responses to a variety of endocrine stimuli. Using the human endometrium as a paradigm of a steroid responsive tissue, we aimed to characterise the expression and function of the oestrogen-receptor related orphan nuclear receptors (ERR) alpha and beta. ERRs share significant sequence homology with oestrogen receptors (ER) alpha and beta but are unable to bind oestradiol. The...

We have studied 20 patients with autoimmune hypothyroidism on large doses of daily thyroxine that were referred to our departments with concerns regarding possible thyroxine malabsorption or compliance issues. Here we describe 3 patients seen in Oxford. One patient had coeliac disease. The other two patients had no history of malaborption and were coeliac antibody negative. None of the 3 patients were on medication which would interfere with thyroxine absorption. All were fema...

Enlarged vestibular aqueduct (EVA) is the most common malformation of inner ear associated with sensorineural hearing loss. It can either be found in nonsyndromic or in syndromic forms of hearing loss, such as Pendred syndrome (PS). In PS, sensorineural deafness is associated with thyroid abnormalities: goitre and iodine organification defect detected with perchlorate discharge test. Mutations in SLC26A4 (PDS) gene cause PS and can also be found in a proportion of patients pre...

The brain is critically involved in the regulation of energy balance and glucose homeostasis. Depending on the levels of energy available in our body, the activity of a group of hypothalamic neurons expressing the neuropeptidergic marker proopiomelanocortin (POMC) changes and it plays a key role in maintaining energy balance. When POMC neuronal activity is altered, this can lead to impaired energy homeostasis and therefore to obesity. However, POMC neurons are highly diverse, ...

The brain plays a crucial role in maintaining the body’s energy needs, a process involving the activity of a group of hypothalamic neurons that express the neuropeptidergic marker pro-opiomelanocortin (POMC). POMC neuronal dysfunction can cause obesity and its associated metabolic sequelae. However, this population of neurons is highly diverse at a molecular and functional level, and whether or not such heterogeneity is implicated in disease establishment or progression h...

Background: Growth monitoring identifies treatable conditions in apparently healthy children and prevents inappropriate referrals. Systematic growth monitoring is not currently a UK priority and growth disorders are frequently diagnosed late.Objectives: Develop and test the accuracy of a smartphone app which enables families to measure a child’s height at home as a cost-effective alternative to primary care growth monitoring.M...

Journal of Endocrinology, 2021, 248(1): 75-86 (DOI: https://doi.org/doi.org/10.1530/JOE-20-0404)...