Endocrine Abstracts

About one in six hospital admissions are for a primary diagnosis of gastrointestinal (GI) disease in the UK, according to the British Society of Gastroenterology, and there is a similar incidence of disease in other developed countries. Inflammatory disease of the gut, in particular, alters the release of cytokines and gut hormones. Medication is used to manage GI diseases and endoscopies help visually monitor its progression. However, this procedure is invasive and causes dis...

Craniopharyngioma is a rare embryonic malformation of the Sellar/parasellar region. This harbors BRAF-V600E mutations. There are 2 Subtypes-Adamantinomatous and Papillary. Point prevalence of CP is around 2/100,000 with no variance by gender or race. CP has bimodal age distribution with peak incidence in the ages of 5-14 and 65-74 years. CP presents with following clinical features: Symptoms due to increased intracranial pressure-Nausea, headaches, visual impairments, hormone ...

The primary cilium, a non-motile microtubule-based organelle protruding from most vertebrate cells, serves as a specialized compartment for signal transduction. Any disruption of ciliogenesis leads to ciliopathy-spectrum disorder with multiple signalling failure in development and homeostasis. Several ciliopathies including Bardet–Biedl syndrome associate with infertility and hormone imbalances, but the role of primary cilia in reproductive disorders is not clear. Congeni...

Case History: X-linked hypophosphataemia (XLH) manifests as rickets in infancy or childhood, and is caused by mutations of the phosphate-regulating neutral endopeptidase (PHEX) gene, which leads to excess production of the fibroblast growth factor-23 (FGF-23) hormone. We present a case illustrating that mutation of PHEX can also cause hypophosphataemia presenting in adulthood. The proband is a 56-year-old male, who was referred with persistent hypophosphataem...

Case history: A 26 year-old lady was admitted directly from the endocrine clinic with severe hypertension (BP 180/130 mmHg) and bilateral papilloedema. Six weeks prior to admission she had undergone resection of a 24 cm right upper quadrant lesion that was pre-operatively felt to be of hepatic origin. She was normotensive pre-operatively. Histology confirmed this to be an adrenal phaeochromocytoma with deficient SDH immunostaining. Pre-operative biochemical assessment had not ...

Case History: In 2011, an asymptomatic 63-year-old professor was found to have isolated hypokalemia. He was normotensive and his only past medical history was hypercholesterolaemia. Investigations were suggestive of Primary Hyperaldosteronism (PHA): aldosterone 1055 pmol/L, renin mass 10 mU/L, Na+137 mmol/L, K+3.2 mmol/L, bicarbonate 31 mmol/L. A CT scan was reported as normal, but a 12mm nodule was subsequently noted contiguous with the left adrenal. A m...

First line screening for pheochromocytoma, as recommend by Endocrine Society guidelines, is to determine plasma free or urinary fractionated metanephrines. We routinely offer the latter. Although negative results rule out pheochromocytoma, it is not uncommon to see borderline results which require further investigation. In this situation we have historically relied on the measurement of plasma catecholamines in the clonidine suppression test (CST). Plasma metanephrines, howeve...

Marshall-Smith syndrome (MSS) is a congenital disorder affecting skeletal and neural development due to mutations in the nuclear factor I/X (NFIX) gene. Of these mutations, 61% are small insertions/deletions, 12% are splice site mutations and 27% are large exonic deletions clustered in exons 6–10 of the NFIX gene. In order to derive a MSS mouse model, the N-ethyl-N-nitrosourea (ENU) mutagenesis DNA archive was screened ...

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...

Feral cat numbers in the UK are thought to number around one million and the Dogs Trust estimates it dealt with just over 110 000 stray and abandoned dogs in 2013. This scenario is common across the world and in the developing world in particular the control of feral populations is an ongoing challenge as well as a huge welfare issue. The only options currently available are expensive surgical neutering, or euthanasia of otherwise healthy animals. There is an urgent need to de...