Endocrine Abstracts

IntroductionThe Indoleamine 2.3-dioxygenase (IDO) is an enzyme involved in tryptophan metabolism, encoded by the IDO1 gene in humans. In Caucasians, the rs9657182 polymorphism of IDO gene was found to be associated with neurobehavioral complications, especially depression. Several studies in Type 2 Diabetes Mellitus (T2DM) describe psychological factors as barriers to the successful implementation of a healthy eating plan. According to our knowledge ther...

IntroductionThe Carney Complex (CNC) is a rare, autosomal dominant, multiple endocrine neoplasia. It involves multiple endocrine glands, cardiac and skin myxomas, mammary fibroadenomas and mucocutaneous pigmentation. Cushing’s syndrome, due to primary pigmented nodular adrenocortical disease (PPNAD), is described in 25% of the cases.Case reportWoman, 21-year-old, was refered for secondary amenorrhea. Med...

Nonfunctioning pituitary adenomas (NFAs) have no symptoms of hormonal overproduction and can be asymptomatic or have severe symptoms due to mass effects. The aim of our study was to assess clinical features and therapeutic outcomes in patients with clinically NFAs. We retrospectively collected data of 175 patients from 3 hospitals of Buenos Aires. Mean age: 51 years (r:13–90), 52% women, mean follow-up: 7.37 years. At diagnosis, clinical presentation was: visual field def...

IntroductionTurner syndrome(TS) is characterized by complete/partial monosomy or by a structural defect in one of X chromosomes. Despite clinical hallmarks of short stature(SS) and gonadal dysgenesis(GD), phenotype is variable and related to underlying chromosomal pattern. Loss of the distal segment of the short arm of x-chromosome(Xp-), including haploinsufficiency of short stature homeobox-containing (SHOX) gene, is thought to be the main factor for gr...

IntroductionPrevious studies in women with idiopathic infertility have shown that obesity does not independently contribute to the decrease in the success of assisted reproductive technology (ART) techniques. However, few studies evaluated the success rate of ART between obese and non-obese women in infertility associated with PCOS.ObjectiveTo compare the number of oocytes, mature oocytes, number of embryos a...

The KINGS mouse harbours a mutant Ins2 which drives beta cell ER stress, however only males develop diabetes. Since diabetes incidence is lower in women and ER stress is implicated in human diabetes, we investigated the influence of oestrogen and testosterone in mediating sex differences in the KINGS mouse. To investigate the influence oestrogen (E2) and testosterone removal on glycaemic control, male (n =4-6) and female (n =9) KINGS mice underwent p...

Congenital adrenal hyperplasia (CAH) is an autosomal recessive condition which leads to glucocorticoid deficiency. During childhood, aims of treatment are to prevent adrenal crisis and to achieve optimal adult height and normal puberty. In adults, aims of treatment are to prevent adrenal crisis, ensure normal fertility and avoid long-term consequences of glucocorticoid use. Current regimens with glucocorticoids cannot optimally replicate the normal physiological cortisol level...

Although ‘simple’ nutritional obesity is increasingly prevalent in the population some other types, such as those secondary to underlying medical conditions, remain relatively rare. These childhood disorders associated with obesity (such as hypothyroidism, Cushing’s syndrome, hypothalamic obesity, leptin deficiency, Prader-Willi Syndrome and melanocortin-4 receptor mutations) will be reviewed and consideration given to which patients should be investigated for t...

G-protein coupled receptors (GPCR) mediate the effects of multiple hormones, and consequently are fundamental for endocrine functions including glucose homeostasis, thyroid function, fertility, control of urine output, and bone remodelling. Mutations in genes encoding GPCRs result in endocrine disorders, and studies of these mutations has improved understanding of GPCR signalling and trafficking pathways, and could facilitate novel therapies. The calcium-sensing receptor (CaSR...

Introduction: The HTC in Nottingham was set up in 2013. Patients are referred to HTC from their first appointment with the Endocrinologist for regular follow up, as per national guidelines. Each Patient is reviewed by a Band 6 Nurse or Endocrine CNS, & counter-checked by an Endocrinologist in clinic.There were two aims to this audit:1. Assess patient satisfaction through a questionnaire (with an aim to ca...