Endocrine Abstracts

A preterm baby was born at 23 weeks + 2 days gestation. She was managed on our tertiary care neonatal unit and remained ventilated for most of her stay. During her admission, she had recurrent episodes of clinically suspected NEC which were medically managed. Her feeds were discontinued on numerous occasions due to bilious aspirates, vomiting and abdominal distention. Given the patient’s clinical condition, a contrast study of the gastrointestinal tract was done using an enteral iodina...

Pregnancies affected by GDM commonly result in large-for-gestational-age (LGA) infants, which have an increased risk of developing cardiometabolic complications. The mechanisms responsible are unclear but are associated with altered placental physiology. We have previously reported that miRNAs, including pancreatic specific miR-375, are altered in maternal serum extracellular vesicles (EVs) prior to the onset of LGA, and in term placenta. We assessed maternal pancreatic-derive...

The Class A G protein-coupled receptor (GPCR), follicle-stimulating hormone receptor (FSHR), and its associated heterodimeric glycoprotein hormone (FSH) are essential for reproduction. As such, they’re key targets of assisted conception. Post-translational modification of FSH gives rise to two predominant glycosylation variants, which are modulated with ageing: partially glycosylated FSH (FSH21/18), predominates in women’s reproductive prime (20’s), displays fas...

Membrane trafficking of G-protein coupled receptors (GPCRs) is a critical mechanism by which cells mediate complex signaling pathways. Endosomes are increasingly recognized as platforms for GPCR signaling. The VEE was first identified using the LHR, a GPCR that is key in reproduction. We have shown that recycling of the LHR is driven by receptor mediated Gαs cAMP signaling from the VEE and PKA-dependent phosphorylation of the adaptor protein, APPL1, while APPL1 negatively...

Metformin is a first-line therapy for type-2 diabetes mellitus and gestational diabetes mellitus (GDM) which shows significant benefits for maternal health. However, offspring exposed to metformin in-utero have an increased risk of being born small for gestational age and developing cardiometabolic complications in adulthood. The mechanisms responsible are unknown. As fetal growth is dependent on optimal placental function, we assessed whether metformin exposure alter...

Background: While the classic presentation of pheochromocytoma includes a triad of episodic headaches (90%), diaphoresis (60–70%), and palpitations (70%), literature has suggested 10% to 17% of patients with pheochromocytoma are either asymptomatic or mildly symptomatic; thus, highlighting the importance of appropriate endocrine work up of adrenal incidentalomas.Case: We report a 37-year-old male with a long-standing history of nocturia and dysuria,...

The MEN1 gene is positioned on the long arm of chromosome 11 (11q13) and results in production of the protein menin. MEN1 mutations produce aberrant menin action or production, although the relationship with tumourigenesis is not clear. Mosaicism is extremely rare, a recent report citing two mosaic cases reported by next generation sequencing1. We describe a 43 year old woman with MEN1 mosaicism associated with parathyroid adenoma and probable pancreatic gastrinoma....

An 87 year old lady with a background of longstanding cognitive impairment was referred to our service with biochemical evidence of primary hyperparathyroidism. The patient had past medical history of type 2 diabetes mellitus, osteoporosis, hypothyroidism, ischaemic heart disease and primary hyperparathyroidism (under observation in a neighbouring health board). There was no pharmacological cause for cognitive impairment identified. Following acute admission after a fall with ...

MEN1 is an autosomal dominant endocrine tumour syndrome, caused by inactivating mutations of the MEN1 tumour suppressor gene at 11q13 locus and characterised by occurrence of hyperparathyroidism, pancreatic tumours and pituitary adenomas. We describe a family with MEN1 syndrome. The index case was a 71-year-old man, referred to Endocrinology clinic in Midland Regional Hospital Portlaoise for hypercalcemia (calcium 3 mmol/l, phosphate 0.5 mmol/l, PTH 350 pg/ml, creatin...

Background: The association between autoimmune thyroid disease (AITD) and other autoimmune diseases is well-known. The prevalence of concurrent autoimmune gastritis and celiac disease in AITD has been estimated at approximately 20–25% and 2–5% respectively. Although both conditions have significant morbidity including malignancy and may necessitate dietary modifications and endoscopic evaluation, no recommendation exists to screen AITD patients for these autoimmune d...