Endocrine Abstracts

A 39 yr-old female with a past medical history of a non-metastatic ductal breast carcinoma, presented to hospital with a two-week history of vomiting and dizziness. Clinical examination was essentially normal apart from pigmentation of her mastectomy scar, palmar creases and buccal mucosa. Investigations revealed a plasma sodium (Na) 102 mmol/l, potassium 4.9 mmol/l, plasma osmolality 219 mOsm/kg, urine osmolality 173 mOsm/kg and urine Na 36 mmol/kg. She was treated with fluid...

Whilst surgery and external beam radiotherapy remain cornerstones of the management of acromegaly, recent guidelines have emphasised the importance of adjunctive medical therapy [e.g. with somatostatin receptor ligands (SRLs), dopamine agonists, growth hormone (GH) receptor antagonists] in attaining 'safe' GH and insulin like growth factor 1 (IGF-1) levels, especially in patients who are not 'cured' following primary intervention. Several studies have established the efficacy ...

The PPARgamma is a ligand activated transcription factor that plays an important role in various biological processes including adipocyte differentiation and glucose homeostasis. Alternate promoter usage generates two receptor isoforms: PPARgamma2, containing 28 additional aminoterminal residues, is selectively expressed in adipose tissue whereas PPARgamma1 is more ubiquitously distributed. PPARgamma2 is strongly up regulated during adipogenesis, suggesting a specific role for...

Peroxisome proliferator-activated receptor-gamma (PPARgamma) is one of the isoforms of the PPAR-family of nuclear hormone receptors. Ligand activated PPARs dimerise with retinoid X receptor and act as transcription factors translating nutritional, pharmacological and metabolic stimuli into changes in the expression of genes. PPARgamma is thought to serve several roles in adipocyte differentiation, fatty acid and lipid metabolism and insulin sensitivity. PPARgamma has also been...

In laboratories employing 'front-line' sensitive TSH measurement, it is generally accepted that fully suppressed TSH levels (3rd generation assays) alongside normal free thyroid hormone levels indicate subclinical hyperthyroidism. However, low but not suppressed levels are often labelled as non-thyroidal illness.We investigated 25 successive ambulant individuals, identified over an 18 month period as having low but not fully suppressed TSH levels (3rd ge...

Section 1: Case history: A 10-year-old girl presented with significant postnatal growth failure. Her birth weight was normal (–0.15SDS) but poor growth was observed from a few months of age. She had no other symptoms. On examination, height was –3.4SDS and head circumference –1.6SDS. She had no dysmorphic features and normal development. Section 2: Investigations: Baseline serum analyses were unremarkable. Karyotype was normal (46XX). Bone age was delayed by 2.5...

Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha (RTHα) is a syndrome whose features include delayed growth and neurocognitive development. Macrophages, which derive from circulating monocytes and have recently been recognized as important thyroid hormone target cells, are innate immune cells that are capable of adopting a wide range of phenotypes. Assuming the right phenotype in the right setting is crucial as macrophage dysfunction has b...

Mutations in THRA, a ligand-inducible transcription factor, cause Resistance to Thyroid Hormone α (RTHα). RTHα manifests with features of hypothyroidism (skeletal dysplasia and growth retardation, neurocognitive impairment, low metabolic rate, reduced intestinal transit) reflecting hormone resistance in TRα-expressing tissues, but associated paradoxically with near-normal circulating TH levels. The lack of clear-cut, abnormal thyroid function tests...

Background: Hypothalamic obesity (HO) is defined as rapid weight gain, hyperphagia and lack of satiety due to physical hypothalamic destruction. HO does not usually respond to lifestyle modification and no pharmacotherapies are specifically approved for treating HO. Efficacy of glucagon-like peptide-1 (GLP-1) agonists, which suppress appetite via hypothalamic satiety centres, is uncertain in HO.Case series: We commenced ...

Background: Immune checkpoint (CTLA-4, PD-1) inhibitors are increasingly used to treat cancers including advanced melanoma. Although endocrine immune related adverse events (IRAEs) are now well reported, the frequency and type of thyroid and pituitary dysfunction reported varies considerably, with hypophysitis after CTLA-4 inhibitors reported in 2–16%, and thyroid dysfunction after PD-1 inhibitors in 2–39%. In addition, recove...