Endocrine Abstracts

Background: X-linked hypophosphatemia (XLH) is a rare, hereditary, progressive musculoskeletal disorder. Prompt diagnosis and treatment in childhood ensures adequate bone matrix mineralization and skeletal growth. There is no consensus on indications for treatment in adult patients.Case Presentation: A 25 year old female was referred to endocrinology with a right ankle fragility fracture. She was known to have XLH, diagnosed in Poland at the age of 1 yea...

Background: Diabetes Insipidus (DI) is uncommon during pregnancy. It may predate pregnancy, be unmasked by pregnancy or arise de novo during pregnancy secondary to other pathology. We present a case of DI in pregnancy to highlight challenges in management.Case Report: A 27-year-old lady at 21 weeks’ gestation, presented to A&E with worsening headache and confusion for three to five months. She was hemodynamically stable, had bitemporal hemianopi...

Background: Pituitary metastasis (PM) is a rare occurrence in malignancy, associated with poor prognosis. Only 7% of patients are symptomatic. High index of suspicion and prompt investigation are essential. We report a case of PM, highlighting challenges in diagnosis and management.Case Report: Sixty-six year old male was referred to endocrinology due to headaches and hyponatremia. He had metastatic colorectal carcinoma, treated with bowel, liver and lun...

Background: Pituitary apoplexy is one of the rare endocrine emergencies. Most series indicate that incidence is between 2-7% based on clinical, surgical and histopathological evidence.1-3 Usually presents with severe headaches that may be associated with nausea vomiting, ocular palsies, fever, photophobia. Predisposing factors are pre-existing pituitary conditions, hypertension, major surgery, anticoagulation therapy, pregnancy, radiotherapy. Appropriate endocrine, ...

Introduction: Gastric neuroendocrine tumors (GNET) are rare gastric neoplasms which are developed due to hypergastrinemia and enterochromaffin-like (ECL) cell hyperplasia. Although the effect of the circadian clock system disruption on tumorigenesis has been already studied in various malignancies and autoimmune diseases, the role of the peripheral clock system in the transition from ECL-cell hyperplasia to GNEN1 (Type 1 Gastric Neuroendocrine Neoplasms) remains unexplored.</p...

Introduction: The biological rhythm pattern is synchronized through circadian oscillation of cortisol and melatonin release. Increased cortisol levels and circadian rhythm disruption act as an oncogenic factor in endometrial cancer through among others- dysregulation of cell proliferation/apoptosis and invasion.Aim: To investigate, whether there is an oscillatory expression of the clock genes, MT1 and GR expression in human endometrial carcinoma cells. T...

Aim: After almost 2 centuries, SGLT2-i have made their comeback in human pharmacology through successful re-introduction in diabetes type 2 (T2D). Via restriction of renal glucose reabsorption, SGLT2-i have shown promising results. The aim of this audit was to ensure that current practice at UHCW NHS Trust is in line with the agreed national standards, whilst collecting clinical data from the use of SGLT2-i.Methods: This...

Background: Obesity is a common risk factor for obstructive sleep apnoea (OSA) and polycystic ovary syndrome (PCOS).Objective: To examine the prevalence of OSA in women with PCOS.Search sources: Electronic databases [Medline, Embase, Cinahl, PsycInfo, Scopus, Web of Science, Opengrey, and Cochrane Central Register of Controlled Trials], conference abstracts, and reference lists of relevant articles. The...

A 26-year-old Caucasian male presented to the joint infertility outpatients clinic with primary infertility. His medical history included hypertrophic cardiomyopathy (HCM) due to genetically confirmed MYH7 sarcomere protein mutation, treated with implantable cardioverter-defibrillator while his partner was a healthy 24-year-old Caucasian nulliparous female. Initial investigations showed hypertestosteronemia (Testosterone: >...

Aim: After almost 2 centuries, SGLT2-i have made their comeback in human pharmacology through successful re-introduction in diabetes type 2 (T2D). Via restriction of renal glucose reabsorption, SGLT2-i have shown promising results. The aim of this audit was to ensure that current practice at UHCW NHS Trust is in line with the agreed national standards, whilst collecting clinical data from the use of SGLT2-i.Methods: This...