Endocrine Abstracts

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...

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...

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...

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...

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...

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...

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...

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...

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...

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...