Endocrine Abstracts

Case History :A 34-year-old Caucasian female patient presented in May 2015 to A&E with symptoms of overt thyroid dysfunction. She was managed medically until June 2016 when thionamide treatment was withdrawn. Unfortunately, this lady had a first disease relapse in July 2018 whilst she was pregnant at 35 weeks of gestation and then further disease relapse in January 2020 during her second pregnancy. Investigations: Initial biochemistry in 2015 confirm...

Case history: A 49-year-old teacher presented to his GP with lethargy and lower limb weakness. He had noticed polydipsia and polyuria, and had experienced weight loss albeit with an increase in central abdominal fat mass. He had previously undergone cholecystectomy and colonic polypectomy. He took no regular medications. Investigations: He had hypercalcaemia 3.34 mmol/l with PTH of 356 ng/l and hypokalaemia 2.7 mmol/l and was admitted for intravenous flu...

The adrenocorticotrophin hormone (ACTH) receptor, also known as the melanocortin-2-receptor (MC2R), is a key mediator of cortisol synthesis in the adrenal gland. Over 40 loss-of-function MC2R mutations have been described to give rise to familial glucocorticoid deficiency type-1 (FGD1). In contrast, to date only one naturally occurring gain-of-function mutation, F278C, has been identified in a patient with ACTH-independent Cushing’s syndrome. Previous work has demonstrate...

Introduction: Heterozygous inactivating mutations in the maternal allele of the GNAS gene typically result in pseudohypoparathyroidism (PHP). GNAS variants were recently described in 1% of patients, not known to have PHP, in the UK Genetics of Obesity cohort, resulting in reduced MC4R signalling and variable effects on PTH-R and GHRH-R signalling.Methods: NGS (Cambridge Obesity Gene Panel) and in vitro functiona...

Phaeochromocytoma is a rare tumour of the adrenal gland medulla characterized by excess catecholamine release. Classic presentation includes paroxysms of hypertension and adrenergic symptoms such as headache, sweating, shortness of breath, and tachycardia. In severe cases, patients might develop hypertensive crises and cardiomyopathy. We present a case of intestinal pseudo-obstruction as a rare complication of phaeochromocytoma which responded only to surgical resection of the...

Objective: To evaluate the optimal parameters and the cut-off points of captopril challenge test (CCT) in the diagnosis of primary aldosteronism (PA) using chemiluminescence immunoassays (CLIA).Methods: Patients with clinically suspected PA who admitted to our hospital between July 2021 and December 2021 were recruited. Both supine and upright aldosterone to renin ratio (ARR) were calculated in all the participants and 21 healthy volunteers. CCT was perf...

Background: Polycystic Ovary Syndrome (PCOS) is an endocrine disorder characterized by hyperandrogenism in women, with a high incidence of insulin resistance. Decanoic acid (DA), a naturally occurring 10-carbon fatty acid, has been shown to improve insulin sensitivity and lipid profile in an in vivo model of diabetes without the induction of weight gain. However, the effects of DA on androgen production has not been explored.Aim: The objective o...

Background: Evidence suggests that pancreatic stellate cells (PSCs) are present in intra-/peri-islets in type 2 diabetes mellitus (T2DM). We isolated stellate cell from islets (ISC) of Goto-Kakizaki (GK) rats. Given these cells are intra-islets, which possibly affect the biological behavior of β-cell. This study was designed to determine the effects of ISC isolated from fibrotic islets of GK rats on β-cell function and survival.Methods: ISC was...

Background: To investigate the typing for HLA-I in Chinese patients with type 1 diabetes (T1D) as a complement screening for HLA-II.Methods: A total of 212 T1D patients and 200 healthy controls were enrolled. The genetic polymorphisms of HLA-I and II were examined with a high-resolution polymerase chain reaction-sequence-based typing method.Results: The novel haplotype, A*33:03-B*58:01-C*03:02(A33), was a...

Background: A subset of Graves’ disease (GD) patients develops refractory hyperthyroidism, posing challenges in treatment decisions. The predictive value of baseline characteristics and early therapy indicators in identifying high risk individuals is an area worth exploration.Methods: A prospective cohort study (2018-2022) involved 597 newly diagnosed adult GD patients undergoing methimazole (MMI) treatment. Baseline characteristics and 3-month ther...