Endocrine Abstracts

A 30year old Afrocarribean man with sarcoidosis presented with unexplained weight gain from 98kg to 112kg over 6 months. He had previously documented bilateral hilar lymphadenopathy, erythema nodosum, arthralgia, a positive gallium scan and a raised serum angiotensin converting enzyme(ACE).He also described hypersomnolence, impaired concentration, decreased libido and intermittent headaches with no other neuro-psychiatric symptoms. He was not on any regu...

A 30year old Afrocarribean man with sarcoidosis presented with unexplained weight gain from 98kg to 112kg over 6 months. He had previously documented bilateral hilar lymphadenopathy, erythema nodosum, arthralgia, a positive gallium scan and a raised serum angiotensin converting enzyme(ACE).He also described hypersomnolence, impaired concentration, decreased libido and intermittent headaches with no other neuro-psychiatric symptoms. He was not on any regu...

Introduction: Androgen insensitivity syndrome (AIS) is a heterogeneous condition. At the milder end of the clinical spectrum, patients with mild AIS (MAIS) are phenotypically male, and may present with infertility, either isolated or associated with gynaecomastia or signs of mild undervirilization. Most cases of complete and approximately 25% of partial AIS patients harbour mutations in the androgen receptor (AR) gene. Over 1,000 pathogenic variants have been describe...

Introduction: Androgen insensitivity syndrome (AIS) is a heterogeneous condition. At the milder end of the clinical spectrum, patients with mild AIS (MAIS) are phenotypically male, and may present with infertility, either isolated or associated with gynaecomastia or signs of mild undervirilization. Most cases of complete and approximately 25% of partial AIS patients harbour mutations in the androgen receptor (AR) gene. Over 1,000 pathogenic variants have been describe...

Resistin promotes both inflammation and insulin resistance associated with energy homeostasis impairment. Resistin is secreted by adipose tissue and macrophages, but its mechanism of action remained unknown because its receptor was not characterised. Recently, we have shown that central resistin acts by way of hypothalamic TLR4 receptors promoting overall inflammation and insulin resistance. Here, we aim to block resistin action in HFD mice that are prone to obesity and inflam...

A 58-year-old gentlemen presented with severe neckache, sweating, feeling hot, and cold. PMH included hypertension and MI. On examination, he was clammy, with blood pressure (BP) 205/107 mmHg. Laboratory results showed leucocytosis 28.5 and TroponinT 2002 ng/l (reference range <14.0). ECG showed inferolateral ST depression. CT angiogram showed a normal aorta and a 6 cm right adrenal mass. An echocardiogram showed severe LV impairment and normal valves.<p class="abstext...

Obesity and its major consequence, type II diabetes mellitus (T2DM), is epidemic throughout Western society. T2DM accounts for 95% of the diabetes worldwide. One limitation to the development of new diabetes treatments has been a lack of effective animal models to use in research. There are no rodent models that recapitulate the pancreatic β-cell lesions of humans with T2DM. Moreover, animal models of obesity either require overfeeding which is expensive and takes weeks t...

Leptin is a pleiotropic hormone acting both centrally and peripherally. It participates in variety of biological processes including energy metabolism, reproduction and modulation of the immune response. So far structural elements affecting leptin binding to its receptor remain unknown. We employed random mutagenesis of leptin, followed by selection of high-affinity mutants by yeast-surface display and discovered that replacing residue D23 with a non-negatively charged amino a...

Carriage of the exon 3 deletion in the GH receptor (GHR) gene has been reported to enhance growth response to GH therapy. JAK2 and PI3K are involved in signal transduction from the GH (JAK2/PI3K) and IGF1 (PI3K) receptors. We have investigated whether a single nucleotide polymorphism within these genes influences growth response to GH therapy. DNA was taken, with ethical approval, from 104 children treated with GH therapy. Diagnoses were: GHD (n=44), TS (n=23), S...

Abnormal fetal growth remains a problem in pregnancies, complicated by diabetes and is associated with increased maternal and offspring mortality and morbidity. Insulin-like growth factors (IGFs) are important regulators of fetal growth. Their effects are controlled by binding proteins (IGFBPs). IGFBP-1 is particularly important in pregnancy. Phosphorylated IGFBP-1 (pIGFBP-1) has a high affinity for IGF-I and inhibits IGF-I actions, whereas de-phosphhorylated IGFBP-1 has a low...