Endocrine Abstracts

vHL disease is commonly inherited in an autosomal dominant fashion. Pancreatic lesions in vHL are generally asymptomatic or associated with mild nonspecific symptoms.Case history: A 40 year old Asian female was seen in genetic/endocrine clinic for Predictive vHL mutation. She was married to her first cousin and had a 19 years old daughter. Her sister was diagnosed with vHL in Canada. She presented with Renal cell carcinoma and renal cysts. Her mother die...

Introduction: Congenital hyperinsulinism (CHI) typically presents in the neonate, however a minority of cases (~ 35%) present later in infancy and childhood. We report the challenging case of an older infant presenting with hypoglycaemia, diagnosed with CHI and managed entirely within a secondary care setting.Case report: A 9-month-old macrosomic (99th centile) infant presented to the Children’s Emergency Department with hypoglycaemia and a 1 week h...

Beckwith–Wiedemann syndrome (BWS) is an overgrowth syndrome caused by multiple epigenetic and genetic changes. It is due to genetic and epigenetic mechanisms affecting the balance of imprinted genes on chromosome 11p15.5. This region has two imprinted control regions, ICR1 and ICR2. ICR1 contains the genes H19 and IGF2 genes with H19 being maternally expressed and IGF2 paternally expressed. ICR2 contains the KCNQ1, KCNQ1OT1, and CDKN1C genes. Hypomethylation of KvDMR1 (an...

A 75-year-old man was admitted acutely with a 1 week history of headaches, reduced visual acuity, diplopia and ptosis of his left eye. Examination confirmed a left III and VI nerve palsies with decreased visual acuity in the left eye. A CT and subsequent MRI revealed pituitary mass lesion measuring 2.4×2.1×1.5 cm with extension into the left cavernous sinus. The pituitary stalk appeared thickened and was deviated to the right. The optic apparatus was uninvolved.<...

A 22 years old woman presented with a few days history of nausea, vomiting and general lethargy. She was not on any treatment except the oral contraceptive pill (OCP). She was apyrexial, tachycardic at 140/min with a regular pulse and her blood pressure was 110/70. She was not pigmented. Her plasma sodium was 131 mmol/l, with normal potassium, creatinine and urea. Her arterial blood gas analysis showed a pH of 7.22 and bicarbonate of 12mmol/L. Her TFTs showed a thyrotoxic pict...

A 61 year old woman presented with a six months history of nausea, vomiting and lethargy. She is a non-smoker and drinks little alcohol. She was on 100mcg of Thyroxine following partial thyroidectomy. Physical examination was unremarkable apart from postural hypotension (BP 140/80mmHg laying, 105/75mmHg standing). Blood tests showed plasma sodium of 121mmol/L with normal potassium, urea, creatinine, FBC, random glucose and TFTs. A short synacthen test (1mcg) was normal with a ...

Introduction: Polycystic ovary syndrome (PCOS) is a complex endocrine disorder of uncertain aetiology, affects 1 in 10 reproductive women and has broad spectrum risks related to reproductive, cardiometabolic and psychosocial health. The wide overlap with other hyperandrogenemic conditions, complexity of PCOS spectrum, and inconsistencies in investigation and management potentially can result in risks of delay in diagnosis and management.Aim: To evaluate ...

Introduction: The COVID pandemic was a challenge in terms of physiopathology and therapeutics. Diabetics represent more than 40% of patients hospitalized for COVID. There was many new cases of diabetes declared during or after a COVID. The purpose of this report is to raise the link between Sars-Cov-2 infection and the appearance of glycemic disorders and new cases of diabetes.Case Presentation 1: A 28-years-old man who had a serious COVID-19 a month ago...

Introduction: Diabetic osteoarthropathy (D.O) commonly referred to as Charcot’s foot is a complication secondary to neuropathic and inflammatory osteolysis, occurring in a setting of old and/or poorly controlled diabetes. Its pathophysiology remains poorly understood and its diagnosis must be systematically evoked in the presence of any inflammatory sign that localised to the foot or ankle occurring on a background of diabetic neuropathy.Clinical ca...

Introduction: Sinonasal neuroendocrine carcinoma SNECs are a rare group of neoplasms that account for only 5% of all sinonasal malignancies. SNECs are categorized by their differentiation grade into well-, moderately- and poorly differentiated.Case report: We describe a classical case of SNEC with secondary orbital involvement in a 34-year-old male patient presented of the occurrence of a right epistaxis. First of all, the patient is smoking. The beginni...