Endocrine Abstracts

Clinical presentation: We report a 46 year old female who presented with a 1 year history of bruising, thin skin and weight gain. In addition; she reported flushing of her chest, heat intolerance, palpitations and abdominal pain. On clinical examination she appeared cushingoid, blood pressure was elevated at 160/98 mm/Hg.Investigations: Biochemical investigations indicated ACTH-dependent Cushing syndrome: 24 h UFC 300 μg (0–50), ACTH 119 pg/ml ...

Background: Recombinant human growth hormone (r-hGH) is the primary therapeutic agent for disorders of growth including growth hormone deficiency (GHD) and Turner syndrome (TS). There is a high cost associated with treatment and existing methods to predict response (and hence alter management) can only account for 40–60% of the variance.Methods: GHD (n=71) and TS patients (n=43) were recruited as part of a study (PREDICT) on the lo...

Polycystic ovary syndrome (PCOS) is a clinical triad of anovulation, hyperinsulinaemia, and androgen excess. Adipose androgen generation of testosterone from androstenedione by aldo-ketoreductase type 1C3 (AKR1C3) may contribute to hyperandrogenism. We hypothesised that insulin may upregulate adipose AKR1C3 expression in vitro in a human differentiated preadipocyte cell line.We analysed AKR1C3 expression in the SGBS human preadipocyte cell line....

Background: Primary or idiopathic empty sella syndrome (ESS) is the herniation of the meninges through an incompetent diaphragma sellae into the sella turcica which pushes the pituitary gland aside so giving the appearance of an empty sella. Secondary ESS is caused by damage to pituitary tissue which results in an empty sella turcica. There is significant lack of agreement in the literature regarding the number of patients with empty sella syndrome (ESS) who suffer from pituit...

Thyroid cancer has an annual incidence of 0.2–5 per million children representing 3% of all childhood tumours. We describe the presentation, histopathology and treatment of four patients in a regional paediatric surgical and endocrine unit over the past 15 years.Three of four cases are female with 1 male. Age of diagnosis ranged from 6 to 15 years. All had an elevated thyroglobulin at presentation with normal thyroid function tests. Three underwent ...

Introduction: Generalised arterial calcification of infancy (GACI) is a rare autosomal-recessive disorder, associated with high mortality rate, due to inactivating mutations in ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) gene that results in arterial stenosis secondary to unregulated hydroxyapatite deposition.Case report: A female baby was born at 34+5 weeks to consanguineous parents with a birth weight of 3.97 kg. Baby was born in ...

An 18 year old male presented with dyspnoea, haemoptysis, weight loss and a large right testicular swelling. On examination he appeared cachectic, diaphoretic and tachycardic. A large firm non-fluctuant right-sided scrotal swelling was present. There were no signs of goitre or dysthyroid eye disease. Thyroid function tests revealed biochemical hyperthyroidism: [fT4 38.6 pmol/L (NR: 9.4–18.6), TSH <0.01 mu/L (NR: 0.3–4.4)]. CT chest demonstrated multiple large pul...

Background: A detailed assessment of children’s diabetes services across 21 units in the Y&H SHA identified a significant variation in care with the number of children with an HbA1c <7.5% ranging from 3 to 30%. This variation could not be explained by demographics or resource.Methods: Agreement was obtained from three units in Yorkshire to pilot a Peer review visit in conjunction with the national Cancer Peer Review Team and too develop the ...

Introduction: The strong correlation between HbA1c and blood glucose (BG) has been recognised in many studies. We investigated this relationship using BG data from 119 children with diabetes, to better understand factors affecting HbA1c and characteristics of children with good versus poor control.Methods: BG data was obtained on 119 children over a 1-month period and on a subset of 43 children over three consecutive months using the Diasend System (Aide...

Background: A children’s diabetes network was established in late 2008 across the Y&H SHA. Following agreement from all units over 2009/10 it identified outcome measures and established policies leading to 2011 being a ‘Year of Action’ to produce significant improvement in services.Methods: All units were required to submit annually to the NDA and to complete an extended version of the 2008 Diabetes UK questionnaire on staffing. Data f...