Endocrine Abstracts

Primary adrenal failure is a rare disorder with a prevalence in developed countries of 93–140 per million and an incidence of 4.7–6.2 per million. Autoimmune adrenalitis is the main cause (80%) followed by tuberculosis (15%). The remaining 5% of cases represent rare disorders with bilateral adrenal haemorrhagic infarction secondary to primary antiphopholipid syndrome being very rare (0.5%).A 57-year-old female presented with a 3-week history of...

Gitelman’s syndrome (GS) is an autosomal recessive renal tubular disorder caused by mutations of the SLC12A3 gene coding for the thiazide-sensitive sodium chloride co-transporter (NCCT). Hypokalaemia, hypomagnesaemia, hypocalciuria and metabolic alkalosis are consequent. Sjorgren’s syndrome (SS) is a connective tissue disorder primarily affecting lacrimal and salivary glands resulting in sicca complex. The coincidental presence of both syndromes is rare. A 28 year ol...

Primary thyroid lymphoma accounts for <5% of thyroid malignancies. The most common (up to 70%) and clinically aggressive sub-type is non-Hodgkin’s B-cell lymphoma. Mucosa-associated lymphoid tissue (MALT) lymphoma is less common (up to 30%) and clinically more indolent. Females are more frequently affected than males (4-8:1) with onset in 6th and 7th decades. A strong association with Hashimoto’s disease (>90%) is recognised. A 66 year old male presented with...

Graves’ disease (GD) is the most common cause of hyperthyroidism with incidence rates of 20-50 cases per 100,000. Genetic predisposition and environmental factors are known to play a role in its pathogenesis. After perceiving an increase in the number of cases presenting to our thyroid clinic we confirmed a rise in the incidence of GD in North West Wales since the start of the COVID-19 pandemic. The annual incidence of GD was calculated using the number of positive thyroi...

A 73 year old female presented with a 5-year history of fatigue, anorexia and weight loss of 15 kg. Her primary care physician recorded a 09:00 h cortisol of 163 nmol/l. Previous medical history was one of abdominal diffuse B-cell lymphoma 9 years earlier treated with 6 cycles of R-CHOP (rituximab, cyclophosphamide, doxorubicin and prednisolone) followed by CT-guided radiotherapy. Medications were transcutaneous buprenorphine 20 mg/hour, aspirin 75 mg od and omeprazole 20 mg o...

Pseudohypercalcaemia is defined as an elevated total calcium level coincidental with a normal ionised calcium level. This rare phenomenon occurs in monoclonal gammopathy of unknown significance (MGUS). We report two cases of MGUS and a case of atopy with grossly elevated IgE levels exhibiting the phenomenon.Case 1: 31 year old female with MGUS, hypercalcaemia and normal parathyroid (PTH) levels. Parathyroid imaging normal. Consensus diagnosis of primary ...

Ectopic posterior pituitary is a rare congenital pituitary anatomical defect of complex inheritance resulting in heterogeneous clinical and radiological phenotypes. Presentation is primarily in paediatric patients with growth and development effects. We present a rare adult presentation patient. A 33 year old male presented with low libido and paucity of facial hair. Previous medical history was limited to a left undescended testis. He took no regular medications, anabolics or...

An NHS Patient Safety Alert in 2016 warned “Risk of severe harm or death when desmopressin (DDAVP) is omitted or delayed in patients with cranial diabetes insipidus”. Endocrinologists added “It (DDAVP) needs to be continued in all situations with the assistance of endocrine teams”.Case report: A 63 year old male was referred with a sodium of 116 mmol/l following a re-do hip replacement 2 weeks earlier. A progressive d...

Insulinomas are neuro-endocrine tumours of the pancreas with an incidence of 0.7-4 cases per 1,000,000 population per year. Type 1 diabetes has an incidence of >20 cases per 100,000 per population per year. Cases of insulinoma with diabetes are lower than in the general population with a type 2 preponderance. This report is the seventh of insulinoma with type 1 diabetes suggesting the latter inhibits the development of the former. A 31 year old female with a 20 year histor...

Cushing’s syndrome is a rare disease with an incidence of 0.72–2.4/million per year. Approximately 14% of patients are over 60 years of age but <1% are over 80 years of age. In a 2-month period, we diagnosed three females over 80 years of age as having Cushing’s syndrome. None of them had a typical cushingoid appearance.Patient 1, 80 years of age. Presentation: coincidental finding of bilateral adrenal hypertrophy on CT scanning as par...