Endocrine Abstracts

Introduction: The valuable and innovative work carried out by Paediatric Endocrine Nurses is not always recognised. The Ipsen BSPED Endocrine Nurse prize provides this group with a valuable platform to promote expertise and best practice; not just within their group but also to the wider multi-disciplinary team.Discussion: Paediatric Cushing’s syndrome (CS) is a very rare, life threatening disorder and the diagnosis/treatment of this condition is ex...

Multiple endocrine neoplasia type 2 (MEN2) is an autosomal dominant condition that is rare in childhood. MEN2 is sub-classified into three categories that all include familial medullary thyroid carcinoma (MTC). Familial MTC has no other associated tumours. MEN2A is characterised by MTC, phaeochromocytoma and parathyroid tumours and MEN2B consists of MTC, phaeochromocytoma, ganglioneuromatosis and usually a Marfanoid habitus. The identification of RET as the causative gene has ...

Hypogonadotropic hypogonadism (HH) is a rare reproductive disorder that results in a lack of normal pubertal development and reduced potential for fertility in adult life. The condition is characterised by low circulating sex steroid concentrations resulting from a deficiency of pituitary gonadotropin production. HH may be congenital or acquired, most commonly due to tumour or treatment for malignant disease. When associated with anosmia it is termed Kallmann syndrome. HH is a...

Background: Evidence suggested a hypercoagulable state in the context of hyperthyroidism. We presented a case of cerebral venous thrombosis (CVT), a rare but potentially fatal complication of the already high mortality thyroid storm.Case History: A 16year old boy with Asperger’s syndrome was admitted with one-month history of non-specific illness and weight loss followed by 2 weeks of progressive frontal headaches and vomiting, weakness in left arm ...

The orphan nuclear receptor, SF-1, is sumoylated in adrenal and gonadal tissues, but the role of sumoylation in pituitary gonadotrophs is currently unknown. We performed expression studies for key components of sumoylation machinery in αT3-1 and LβT2 gonadotroph cell lines, using RT-PCR. Expression of the genes encoding the SUMO proteins (Sumo1, Sumo2, Sumo3) as well as the E3 ligase enzymes responsible for their covalent linkage (Pias1, Pias2/xα, Pias...

Background: Thyroid hormones are essential for the adequate growth and development of the kidney and also target changes in glomerular and tubular functions and electrolyte and water homeostasis. Hyperthyroidism leads to an increase in glomerular filtration rate (GFR) and renal blood flow with converse effects seen in hypothyroidism. In turn, the kidneys are responsible for the metabolism and elimination of thyroid hormones and thus renal disease can lead to s...

Background: Growth monitoring identifies treatable conditions in apparently healthy children and prevents inappropriate referrals. Systematic growth monitoring is not currently a UK priority and growth disorders are frequently diagnosed late.Objectives: Develop and test the accuracy of a smartphone app which enables families to measure a child’s height at home as a cost-effective alternative to primary care growth monitoring.M...

Background: Endogenous Cushing’s syndrome (CS) in children remains a challenge to diagnose and exclude. 24-h urinary free cortisol (UFC) measurements are a convenient, non-invasive test for paediatric patients.Objective: To assess the screening accuracy of 24-h UFC measurements in paediatric patients referred to our centre for evaluation of possible CS.Methods: A retrospective review of children referred to our centre between ...

Introduction: Patients with the familial cancer syndrome von Hippel–Lindau disease (VHL) are enrolled in radiological screening programmes which aim to identify tumour development at an early stage. This facilitates timely intervention to lesions when the risk of metastatic spread is low and when they are conducive to less-invasive and parenchymal-sparing interventions, thereby minimising treatment-related morbidity. A number of international screening protocols exist, al...

Background: The low dose dexamethasone suppression test (LDDST) is an important investigation for suspected Cushing’s syndrome (CS). The traditional definition of normal suppression of serum cortisol to ≤50 nmol/l (0.5 mg 6 hrly × 48 hrs) comes from a time when biochemical auto analysers did not routinely detect very low values. Previous studies reported 5.1–8.3% of patients with Cushing’s disease (CD) suppressed to <50 nmol/l at 48 hrs. Many clin...