Endocrine Abstracts

Generalised resistance to glucocorticoid is a rare familial or sporadic disease with partial target tissue insensitivity to glucocorticoids. Compensatory activation of the hypothalamo–pituitary–adrenal axis occurs with raised andrenocorticotrophic (ACTH) hormone levels and increased synthesis of adrenal steroids. The phenotype varies from asymptomatic to excess glucocorticoid, mineralocorticoid and androgenic effects.A 20-year-old female was fo...

Cushing’s syndrome is a rare endocrine disorder which the Royal College of Physicians/Society for Endocrinology Guidelines – Pituitary Tumours (1997) suggest should only be differentially diagnosed in centres with appropriate technical and enocrinological expertise. We conducted an audit against these guidelines of the management of Cushing’s syndrome in our unit (population covered 250, 000) over the 3-year period between January 2003 and January 2006. Aetiolog...

The syndrome of inappropriate secretion of antidiuretic hormone (SIADH) occurs in 10-45% of patients and secretion of ectopic adrenocorticotrophic hormone (EAS) in 2.5% of patients with small cell lung cancer (SCLC). Simultaneous secretion of ADH and ACTH is rare with only 10 cases being reported. The varying biochemical data leads to misdiagnosis as this case demonstrates. A 67 year old male presented with a 2 week history of falls attributed to alcohol abuse. Physical signs ...

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 ...

Opiate use is a well-recognised cause of hypogonadotrophic hypogonadism. Adrenocorticotrophic hormone and growth hormone deficiencies are much rarer.A 56-year-old female presented with weight loss, lethargy, and nausea of ~3 years duration. She had received treatment with morphine sulphate 100 mg twice daily for ~15 years for back pain due to disc prolapse and osteoarthritis. A 0900 h cortisol of 110 nmol/l requested by her general practitioner had resul...

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...