Searchable abstracts of presentations at key conferences in endocrinology

ea0009p12 | Diabetes and metabolism | BES2005

Refractory hypertension can often be helped by the use of the potent vasodilator minoxidil: results in 13 patients, 12 of whom were already receiving angiotensin converting enzyme inhibitors or angiotensin II receptor antagonists

Black R , Hunter S , Atkinson A

The vasodilator minoxidil is a potent antihypertensive agent. However, its use has been rather limited and it can easily be overlooked in the era of ACE inhibition and angiotensin receptor blockade. It must be used with diuretic and beta-blocker cover.We reviewed 13 male patients with refractory hypertension attending our hypertension clinic from January to July 2004 and currently receiving minoxidil. Analysis was with paired t-tests.<p class="abstex...

ea0003p27 | Clinical Case Reports | BES2002

A case of pseudohypoparathyroidism with diagnostic dilemmas

Kennedy A , Hadden D , Hunter S

A 22 year old female was referred for investigation of cramps in both hands, and tingling in her face. She also complained of lethargy and occasional dizziness. Routine testing by her General Practioner had demonstrated a low serum calcium. She had had problems at birth with hypocalcaemia. A diagnosis of hypothyroidism had been made previously, but she had stopped taking thyroxine medication. Both her mother and grandmother had required intermittent calcium supplementation. On...

ea0003p254 | Steroids | BES2002

Hypoglycaemia and Addison's disease - cause or association?

Kennedy A , Hadden D , Hunter S

J. Q. presented initially at age 2 years with hypoglycaemia following a six-hour fast prior to an elective surgical procedure. Investigations demonstrated a low plasma glucose (1.6mmol/l), elevated beta Hydroxybutyrate (5.2 mmol/l), normal lactate (1.09nmol/l) and a detectable serum insulin level (2.5 mU/L). A plasma amino-acid profile was normal. The dorsum of his hands and the extensor region of his arms were noted to be pigmented, however a synacthen test at that time, ind...

ea0031p110 | Clinical practice/governance and case reports | SFEBES2013

The difficulties in diagnosing and treating phaeochromocytoma in a patient with multiple co-morbidities

McKenna Dearbhla , Hunter S J , Mullan K

A 33-year-old lady reported a 6 months history of sweating and worsening palpitations especially after taking sotalol. She had a history of congenital heart disease (double inlet left ventricle, pulmonary valvular stenosis, ventricular septal defect, and Fontan connection surgery at 18 years); Blue Bleb Syndrome with chronic gastrointestinal blood loss, and recurrent pulmonary emboli. She required long-term warfarin treatment and regular blood transfusions. She was found to ha...

ea0031p113 | Clinical practice/governance and case reports | SFEBES2013

Primary hyperparathyroidism in pregnancy: a conservative approach

Wallace HJ , Eatock F , McCance D R , Hunter S J

Primary hyperparathyroidism (PHP) during pregnancy is associated with high risk of maternal, foetal and neonatal mortality. Maternal and foetal complications have been reported in 67 and 80% of cases respectively. Guidelines for the management of PHP in adults exist, but there is no clear consensus regarding optimal management of PHP during pregnancy. We describe a case of PHP managed conservatively during pregnancy, resulting in the delivery of a healthy baby.<p class="ab...

ea0029p7 | Adrenal cortex | ICEECE2012

The combined use of nocturnal salivary cortisol and urinary cortisol to creatinine ratio in the evaluation of cycling in patients with Cushing’s syndrome

Graham U. , Hunter S. , McDonnell M. , Mullan K. , Atkinson B.

Cyclical Cushing’s syndrome is typically detected by collecting sequential daily early morning urine (EMU) samples for cortisol to creatinine ratio over a 28 day period. More recently nocturnal salivary cortisol (NSC) measurement has been shown to be a sensitive means of screening for Cushing’s syndrome. The Endocrine Society have suggested that NSC may be used to assess patients for cyclical Cushing’s however there is limited evidence that it correlates with th...

ea0029p18 | Adrenal cortex | ICEECE2012

Use of the 250 mcg short synacthen test in the diagnosis of primary aldosteronism

Graham U. , Hunter S. , McCance D. , Atkinson B. , Mullan K.

Aberrant and upregulated eutopic receptors have been identified in vitro in patients with primary aldosteronism (PA). We previously identified an exaggerated aldosterone response to synacthen in patients with PA versus healthy controls. In this study we aimed to evaluate whether the synacthen test differentiates between patients with PA and essential hypertension (EH).The 250mcg intramuscular synacthen test was performed after 30 minutes recumbenc...

ea0019p331 | Steroids | SFEBES2009

A case of triple A syndrome: more than just glucocorticoid deficiency

Wallace I , Hunter S , Koehler K , Huebner A , Carson D

Triple A syndrome (also known as Allgrove’s syndrome, MIM #231550) is a rare autosomal recessive disorder characterised by ACTH-resistant adrenal insufficiency, alacrima and achalasia. Neurological features may also be present. Various combinations of these features may be present which evolve over time. Triple A syndrome is caused by mutations in the AAAS gene which encodes for the protein ALADIN, a member of the nuclear pore complex, whose function is incompletely under...

ea0010p40 | Endocrine tumours and neoplasia | SFE2005

The RET mutation E768D confers a late onset FMTC-only phenotype with incomplete penetrance

McCall D , Dabir T , Russell C , Morrison P , Hunter S

Mutations of the RET proto-oncogene are associated with MEN and FMTC and aid diagnosis and predictive testing in family members. Genotype-phenotype correlations are also used to plan therapeutic decisions. We describe a 4 generation family with a rare E768D mutation in exon 13. The index case was diagnosed with MTC at age 54 and remains free of clinical disease 11 years following thyroidectomy and neck irradiation. 2 further family members were identified with MTC at age 25 an...

ea0019p5 | Bone | SFEBES2009

Identification of a kindred from Northern Ireland with familial hypocalciuric hypercalcaemia type 3, which maps to chromosome 19q13.3

Nesbit MA , Hannan FH , Graham U , Hunter S , Morrison PJ , Thakker RV

Familial hypocalciuric hypercalcaemia (FHH) is an autosomal dominant disorder of mineral metabolism that is characterized by lifelong elevation of serum calcium concentrations associated with inappropriately low urinary calcium excretion (calcium clearance:creatinine clearance <0.01). Three separate FHH loci have been identified (FHH1-3). Loss-of-function mutations of the calcium-sensing receptor (CaSR) gene located on 3q21.1, which account for the majority of FHH c...