Endocrine Abstracts

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Diabetes mellitus type 1 (DM1), an autoimmune disease, affects an increasing number of young men in reproductive age. It has been estimated that its prevalence increases at a rate of ~3% per annum. Diabetes may affect male reproductive function by acting on the hypothalamic-pituitary-testicular axis, causing sexual dysfunction and disrupting male accessory gland function. According a recent study shows that men with DM1 have a smaller number of live births than controls. Despi...

Early miR expression analyses in papillary thyroid carcinoma (PTC) disclosed profound differences in the expression of several, microRNAs in thyroid tumor compared with unaffected thyroid tissue. For instance, miR146 and miR221 were 19- and 11-fold upregulated in PTC. These and other miRs target the thyroid hormone receptor THRB gene. Transfection of cell lines with miR146a and other miRs in vitro resulted in down-regulation of THRB transcript and protein. Promoter luci...

ACTH insensitivity or Familial Glucocorticoid Deficiency (FGD) is an autosomal recessive disorder that presents in early childhood usually with hypoglycaemia and seizures, infection or malaise and skin pigmentation. Plasma cortisol is low or undetectable and ACTH markedly elevated. Renin and aldosterone are not markedly disturbed. FGD results from mutations of the ACTH receptor in about 25% of cases. We have sought further genetic causes of this disorder using a homozygosity m...

Introduction: Primary parathyroid carcinoma accounts for less than 1% of the parathyroid gland tumours and almost always presents as primary hyperparathyroidism. Very few Turner syndrome patients have been reported so far to present with primary hyperparathyroidism secondary to parathyroid adenoma. We report a case of parathyroid carcinoma in a 59 years old lady with Turner syndrome who is presenting with recurrent mild hypercalcemia.Case presentation: A...

DOTA (1,4,7,10-tetraazacyclododecane-1,4,7,10-tetraacetic acid)−peptide (DOTA peptide) seen on positron emission tomography combined with computed tomography (68Ga-DOTA PETCT) has been proven to be one of the most accurate methods of imaging NETs. The first stage in the accurate reporting and utilising DOTA PETCT is a clear understanding of the normal patterns. PNETs can present with focal DOTA peptide uptake on imaging. We present preliminary data of a retros...

Children and young people (CYP) with Type 1 Diabetes who maintain a healthy BMI, diet and accurate carbohydrate-counting have lower risk of cardiovascular disease and diabetes complications. The tracking of key Diabetes health checks and outcomes via the National Paediatric Diabetes Audit (NPDA) has been successful in ensuring year-on-year improvement of national average HbA1c. Aside from BMI however, Dietetic-specific outcomes are not currently included in the NPDA. Therefore...

Women with Turner’s syndrome (TS) have been reported to have 11.5% relative risk of type 1 diabetes mellitus (DM) and 4.3% relative risk of type 2 DM. However, it is now evident that the traditional categorisation of DM may not be appropriate in this condition as the defect of glucose homeostasis often presents in young non-obese women. In fact, the pattern of insulin secretion in TS seems more likely to be due to beta cells dysfunction or insufficiency, which is reminisc...

CHARGE syndrome describes a pattern of birth defects which occurs in about one in every 9–10 000 births worldwide. It consists of a combination of congenital malformations: coloboma, heart defect, choanal atresia, delayed development, genital hypoplasia, ear abnormalities, and/or hearing loss defect. Casual mutations involve the chromodomain helicase DNA-binding protein-7 (CHD7). Gene locus 8q12.1, 7q21.1. The phenotype can also be caused by mutation in the semapho...

Renal transplantation is the optimal treatment strategy for patients with end-stage renal disease (ESRD); few are afforded the opportunity due to limited organ supply. Of the alternatives, peritoneal dialysis (PD) and hemodialysis (HD), it is unclear which confers the greater survival advantage, as prior comparisons have demonstrated conflicting results due to lack of case-mix adjustment, limited follow-up, and failure to consider switches in modality over time.<p class="a...