Endocrine Abstracts

Aim: To compare the BMI z-score of children with type 1 diabetes (T1DM) in Nottingham with that of national and local background populations and to identify factors associated with increased BMI.Methods: A retrospective observational cohort study of patients with T1DM aged 2–15 years under the care of the paediatric diabetes team at Nottingham Children’s Hospital, between April 2013 and March 2014. Mean BMI-z-score for the year was com...

Background: Current NICE guidance states that insulin pump therapy (CSII) can be considered in Type 1 diabetes (T1DM) patients who suffer disabling hypoglycaemia in an attempt to reach glycaemic control or whose HbA1C remains high (>69 mmol/l) despite careful management on multiple daily injections (MDI).Aims: Our aims were to determine impact of CSII therapy on glycaemic control, BMI, incidence of severe hypoglycaemia and episodes of diabetic ketoac...

Background: Early diagnosis of girls with turner syndrome (TS) is essential to provide timely intervention and support. The screening guidelines for TS suggest karyotype evaluation in patients presenting with short stature, webbed neck, lymphoedema, coarctation of aorta or >two dysmorphic features (nail dysplasia, high arched palate, short fourth metacarpal or strabismus).Objectives: The aim of the study was to determine the age and clinical features...

Background: Transsphenoidal surgery is the primary therapy in majority of Acromegaly patients with GH-secreting somatotroph adenomas. Reported outcomes of surgery show an initial remission rate of 40–50% for macroadenomas and >85% for microadenomas. Rates of hypopituitarism following endoscopic pituitary decompression vary between 5 and 25%. Invasion of cavernous sinus indicates the tumour is unlikely to be resectable.Methods: We audited the res...

Background: RAI is used as definitive treatment for hyperthyroidism, but administered activities vary between institutions. We used a fixed activity of RAI therapy for Grave’s disease (GD) and toxic multinodular goitre (TMNG), and calculated activity for toxic adenoma (TA). We reviewed treatment outcomes at one year.Methods: Thyroid function tests 1 year post RAI were reviewed retrospectively to asess outcome for 79 hyperthyroid patients divided int...

Germline mutations account for hereditary phaeochromocytoma (PCC) and paraganglioma (PGL) syndromes. SDHB immunostaining can be used to functionally characterise SDH status on PCC and PGL tumours. Genetic testing of multiple candidate genes is increasingly performed in patients presenting with PCC/PGL tumours. We investigated the effectiveness of SDHB immunostaining as an initial screening tool in identifying SDH mutations.This was a retrospecti...

We present the case history of a 33-year-old male with Noonan syndrome diagnosed at 2 months of age, as he had typical facial features (hypertelorism, ptosis, low set ears, and small pointed chin), a heart murmur and bilateral cryptorchidism. At 22 months he underwent patent ductus arteriosus closure and at 24 months, the left testis was excised, for testicular torsion. He had learning difficulties and attended a special needs school and was intermittently reviewed in the paed...

Renal functions in a mouse model of Cushing’s Syndrome have been characterised by analysing RNA expression complemented by immunohistochemistry studies. A microarray of kidneys from mice infused with ACTH for two weeks identified gene transcripts that were up-regulated (70) and down-regulated (49) more than two-fold. Four separate clusters of closely correlated genes (r> 0.97; P< 0.001) were investigated in more detail. One down-regulated cluster included histocom...

Many cases of hypertension are associated with inappropriately high levels of aldosterone secretion and it has been proposed that microRNAs play a role in this dysregulation. Previously, we showed that microRNAs expressed within the adrenal cortex significantly repress aldosterone production. Furthermore, stimulation of aldosterone secretion by three different means in the H295R cell line – the most commonly-used in vitro model of the human adrenal cortex – ...

Background: One percent of the adult population are, at any one time, prescribed oral glucocorticoids (GC). GCs are known to be associated with hypothalamic–pituitary–adrenal axis suppression. However, there remains uncertainty regarding: i) the prevalence of GC-induced adrenal insufficiency (AI); ii) the effects of GC dose and duration; and iii) the time course of adrenal recovery and how GCs should be withdrawn. We undertook a systematic literature review to addres...