Endocrine Abstracts

Introduction: Neonatal thyrotoxicosis is rare and occurs with transfer of Thyrotropin Receptor Antibodies (TRAb) across the placenta in a mother with a history of Grave’s disease. The neonatal mortality rate can be as high as 20%, usually secondary to cardiac failure. Therefore prompt diagnosis and treatment is essential.Methods: We report a series of seven infants with neonatal thyrotoxicosis seen in the Endocrine clinic between 2011 and 2015. Mate...

GPR120 is a rhodopsin-like GPCR that has a high affinity for long-chain saturated fatty acids 14–18 carbons and unsaturated fatty acids 16–22 carbons. The beneficial effects of GPR120 on β-cell function and glucose homeostasis have recently been reported however its role in glucagon secretion is unknown. GPR120 and glucagon expression were examined by double immunohistochemical studies using a glucagon secreting cell line (α-TC1.9) and pancreatic tissue fro...

Introduction: Hyperparathyroidism is common in patients with end-stage renal failure (ESRF): up to 20% require treatment for hyperparathyroidism within 10 years of commencing haemodialysis. Despite the significant cost of long-term medical treatment with calcimimetics and poor patient compliance, only a minority of patients are referred for surgery, usually due to their significant co-morbidity.Methods: Outcome data of patients with secondary or tertiary...

Hydrocortisone therapy should be individualised in patients with adrenal insufficiency to avoid over and under replacement. We assessed hydrocortisone absorbtion at different times of day which may impact on treatment regimens. We assessed the oral absorption of hydrocortisone in 48 patients (21M) aged between 6.1 and 20.3 years with congenital adrenal hyperplasia due to P450c21 deficiency. Hydrocortisone dosing ranged between 11.5 and 22.6 mg/m2 per day in three or...

Background: The insulin receptor (INSR) is alternatively spliced in a developmental and tissue specific manner into two isoforms, IR-A and IR-B. IR-A excludes exon 11 and is widely expressed whereas IR-B includes exon 11 and is expressed in insulin sensitive tissues. The severe short stature disorder 3-M syndrome is caused by mutations in CUL7, OBSL1 and CCDC8 and we have recently associated these proteins with the major mRNA splicing pathways includ...

Introduction: The prevalence of OSAS in the general population is ~ 3%. Associations between T2D and OSAS have been shown, but the prevalence of OSAS in T2D in Wales is not known.In OSAS recurrent episodes of collapse of the upper airway (apnoeas) occur during sleep. The resulting transient hypoxia and increased sympathetic drive leads to repetitive arousals. Sleep fragmentation results in excessive daytime sleepiness (EDS). Snoring, witnessed apnoeas, a...

Background: Germline mutations of the AIP tumour suppressor gene are associated with familial and sporadic pituitary adenomas, yet the tumorigenic mechanisms remain unclear. In addition, AIP protein expression in somatotroph adenomas from patients without AIP mutations correlates with clinical behaviour and somatostatin analogues responsiveness. Understanding the regulation of AIP gene expression will help uncover its pituitary tumour-suppressor role.Aim...

Introduction: Congenital hyperinsulinism (CHI) is a clinically heterogeneous condition. Mutations in ABCC8, KCNJ11, GLUD1, GCK, HADH, SLC16A1, HNF4A, UCP2 and HNF1A are known to cause CHI. There are two histological subtypes of CHI: diffuse and focal. Apart from the functional channel defect, β-cell hyperplasia has been observed in diffuse CHI. We aimed to understand the gene expression pattern in pancreatic tissue of patients with diffuse CHI when compared to normal cont...

Osteoporosis is a debilitating condition that can be prevented by timely detection and treatment. Detection requires referral for dual energy X-ray absorptiometry (DXA) that depends on risk factors. We estimated the importance of risk factors for a T-score of <−2.5 measured by spine and hip DXA in all men and women referred from general practice for a DXA scan at Aalborg University Hospital during a 3 years period. Risk factors were assessed by questionnaire...

Background: Although the excision of ACTH-producing tumors or adrenal tumors is the principal treatment for Cushing syndrome (CS), pharmacologic treatment has a well-established role. Among various medical agents, ketoconazole (KTZ) has inhibitory effect over 17,20 desmolase, 17α-hydroxylase, 11β-hydroxylase, and 16α- and 18-hydroxylase; moreover, it also inhibits ACTH production and cellular growth, partly because of apoptosis induction.C...