Endocrine Abstracts

Neonatal diabetes or monogenic diabetes of infancy can manifest as a transient or permanent condition. TNDM is most commonly caused by imprinting disorders on chromosome 6q24 (TNDM1.Uniparental Isodisomy Chromosome 6, Paternal Duplication of 6q24, loss of maternal methylation). Recently it has been identified that over half of those with maternal hypomethylation at 6q24 have relaxed maternal methylation at other imprinted loci and that the majority of these patients have mutat...

History: We present the case of a 47-year-old man with heart failure (HF) and cranial diabetes insipidus (CDI) secondary to Langerhans-cell-histiocytosis. In the context of worsening HF with increasing shortness of breath and fluid retention, careful desmopressin dose reduction provided adequate aquaresis to restore euvolemia, obviating the need for usual diuretic treatments.Investigations: Echocardiography and a cardiac MRI revealed a non-dilated but se...

Background: Serotonergic signalling has been implicated in numerous hypothalamic functions including circadian rhythmicity, feeding and the modulation of neuroendocrine systems. In spite of the importance of these functions, the neuroanatomy of the serotonergic system in the human hypothalamus is still unknown.Aim and methods: To increase insight in hypothalamic serotonin signalling in humans, we investigated the distribution of serotonin transporters (S...

Background: Childhood obesity and type 2 diabetes mellitus (T2DM) have increased proportionately in the last decade. Oral glucose tolerance test (OGTT) is recommended for paediatric patients with a BMI >98th centile (NICE, 2014) to identify T2DM or abnormal glucose homeostasis (AGH).Aim: To estimate the proportion of patients with AGH/T2DM seen in a tier 3 obesity service and evaluate the utility of the glycated haemoglobin (HbA1C) in detecting AGH. ...

Introduction: The management of childhood obesity is complex and requires intensive input from a multidisciplinary team. Pharmaceutical interventions may be required in addition to lifestyle modifications to treat morbid obesity. In a double blind randomised controlled trial, liraglutide, a glucagon-like peptide 1 (GLP-1) agonist along with dietary and lifestyle interventions showed beneficial BMI reduction in children and adolescents. We present a morbidly obese adolescent wi...

Introduction: Under-nutrition is a greater risk factor for low productivity andpoor health as diabetes1. In Benin 11.9% of males and 9.5% of females were underweight2 and 5.3% of the population have diabetes3. There is no data available on underweight among diabetic in Benin.The aim of this study is to determine the prevalence of underweight among diabetic and the associated factors.Method: It was a...

Physiology shows vitamin D has a role in the immune system and glucose metabolism. Experimental and epidemiological studies demonstrate associations between type 1 diabetes mellitus (T1DM) and vitamin D levels. Vitamin D deficiency appears undesirable in T1DM, although its significance in aetiology and progression is controversial.We reviewed the outcome of implementing vitamin D screening at T1DM diagnosis. Methods were review of diabetes register, hosp...

Introduction: Adults with GH deficiency (GHD) have a decreased life expectancy due to cardiovascular diseases (CVD). Recombinant GH treatment has made replacement therapy an option in adults with GHD. Data on long-term efficacy and safety are limited and the implication for life expectancy remains to be established.Methods: The Dutch National Registry of GH Treatment in Adults was founded to gain more insight into long-term efficacy and safety of GH ther...

Background: Type 1 pseudohypoaldosteronism (PHA) is characterised by resistance to aldosterone action, resulting in salt wasting, hyperkalaemia and metabolic acidosis in the neonatal period. Type 1 PHA can be classified as Renal PHA (autosomal dominant (AD)), and the more severe Multiple target organ defect / systemic PHA (autosomal recessive (AR)). The aim of this study was to ascertain the incidence of PHA, and characterise mode of presentation, management and clinical outco...