Endocrine Abstracts

Background: HADH encodes for the enzyme 3-hydroxyacyl-coenzyme A dehydrogenase (HADH) and catalyses the penultimate reaction in the beta-oxidation of fatty acids. Mutations in the HADH gene have recently been described to cause protein sensitive hyperinsulinaemic hypoglycaemia (HH). Protein sensitive HH (specifically leucine sensitivity), is also associated with the hyperinsulinism-hyperammonaemia syndrome (HI/HA syndrome) caused by activating mutations of GLUD1 ...

Aims & objectives: IMPROVE™ is a 6-month, multi-national, prospective, observational study, assessing the safety and efficacy of biphasic insulin aspart 30/70 (BiAsp 30) in patients with type 2 diabetes.Methods: We present the efficacy data from the Indian cohort of IMPROVE study. A total of 17 995 subjects entered the study and 16 942 subjects completed the study. BiAsp 30 was initiated and dose was adjusted at the physician’s discretion, ...

Background: Hyperinsulinism–hyperammonaemia (HI/HA) syndrome is caused by gain of function mutations in the GLUD1 gene. Patients present with recurrent hyperinsulinaemic hypoglycaemia (HH) together with asymptomatic, persistent elevation of plasma ammonia levels. Leucine sensitivity is an important feature of this condition.Objectives: The aim of this study was to understand the genotype phenotype correlations in patients with HH due to GLUD1 mutati...

There is a high prevalence of low testosterone levels in men with type 2 diabetes (DM2) and low testosterone predates the onset of DM2. Testosterone replacement therapy for hypogonadal men with DM2 improves insulin sensitivity and glycaemic control as well as reducing central obesity. This may lead to an increase in biochemical assessment of hypogonadism in men with DM2. Androgens and other steroid hormones are produced from cholesterol and it has been postulated that treatmen...

Low testosterone levels are a common finding in men with coronary artery disease and Type 2 diabetes and predict the future development of the metabolic syndrome and Type 2 diabetes in healthy men. Testosterone replacement therapy has been shown to improve insulin sensitivity and glycaemic control in men with diabetes and improves numerous other cardiovascular risk factors. Interest in testosterone as a potential treatment for cardiovascular disease continues to grow. Low HDL ...

Testosterone has immune-modulating properties and current in-vitro evidence suggests that testosterone may suppress the expression of the pro-inflammatory cytokines Tumour Necrosis Factor (TNF alpha), interleukin (IL)-1 beta and IL-6 and potentiate the expression of the anti-inflammatory cytokine IL-10. We report a randomised single-blind placebo-controlled crossover study of testosterone replacement (Sustanon 100) versus placebo in 27 men (age 62+-9years) with symptomatic and...

Background: Testosterone has been shown to have anti-inflammatory properties and may suppress production of pro-inflammatory cytokines. In this study, we examined the effects of testosterone on the ex-vivo production of the anti-inflammatory cytokine interleukin- (Il-)10 in whole blood from hypogonadal men.Method: 16 men with new diagnosis of hypogondism were studied. Mean age was 61.7 (2.9) years, plasma total testosterone was 6.4 (0.4) nM. Blood was c...

Foot ulceration in diabetes is known to represent a major cause of morbidity and mortality, and carry considerable financial implications for healthcare organisations. Little research has studied the outcomes for patients with foot ulcer in Eastern India. We identified 717 patients aged 18 years and over with Type 2 diabetes mellitus (T2DM) who presented for management of their diabetic foot ulcers from February 2013-February 2016 with mean follow up of 2 years. Methods: Of th...

Background: Cardiofaciocutaneous (CFC) syndrome is a rare disorder characterised by multiple abnormalities including congenital heart disease, craniofacial dysmorphology, ectodermal abnormalities, developmental delay, and epilepsy. Case reports of growth hormone (GH) deficiency, hyperprolactinemia, and precious puberty have been reported in association with CFC syndrome. A recent case series and gene knockout study highlighted the mechanistic role of CFC syndr...

Introduction: Addison’s disease (AD) is a rare endocrine disorder in children, characterized by insufficient production of cortisol and aldosterone due to adrenal gland dysfunction. While electrolyte imbalances, including hyponatremia, hyperkalaemia, can occur in AD, severe hyponatremia is an unusual and challenging complication in children. We present a case of severe hyponatremia in a teenager diagnosed with AD.Case report...