Endocrine Abstracts

X-linked adrenoleukodystrophy (ALD) is a rare condition affecting the nervous system and adrenal cortex that typically presents in childhood. It results from mutations in the ABCD1 gene. We describe two cases of ALD presenting with hypoadrenalism in adulthood.A 20 year old man presented with persistent vomiting. He was pigmented, blood pressure was 100/60 mmHg, and neurological examination was normal. Investigations showed serum sodium 125 mmol/L, urea 1...

IntroductionParathyroidectomy remains the mainstay of treatment for primary hyperparathyroidism. Routine measurements of calcium and PTH mean that primary hyperparathyroidism is being detected and treated at an earlier stage. Consequently the profound hypocalcaemia pathognomonic of hungry bone syndrome, usually commencing within 48 hours of surgery, is now rarely seen in clinical practice.MethodsWe present a ...

Co-existence of a brain tumour (not associated with previous irradiation) and a pituitary adenoma has been rarely described. Astrocytomas have an incidence of <5/100,000 and somototroph adenomas of <4/1,000,000. In astrocytomas, a positive correlation between IGF-I immunoreactivity and histopathological grade/cell proliferation rates have been proposed. Here, we report a case of acromegaly detected incidentally shortly after the diagnosis of an anaplastic astrocytoma.<...

Hyponatremia is the most common electrolyte disturbance seen in hospital practice. Severe hyponatremia can be life threatening and is associated with considerable mortality.AimTo assess the prevalence of severe hyponatremia (plasma Sodium <120 mmol/l) by retrospective analysis in a hospital population and its laboratory investigation, management and clinical outcome.ResultsOver a si...

AimsTo define the prevalence of hyponatraemia (serum sodium <135 mmol/l) on our medical admissions unit and review the laboratory investigations, diagnosis and management of patients with critical or severe hyponatraemia (serum sodium <120 mmol/l).MethodsSerum sodium levels requested from the medical admissions unit over a six-month period were retrospectively collated. Case notes and biochemistry dat...

Sporadic somatostatinomas are rare neuroendocrine tumours (NETs), classically presenting with hyperglycaemia, cholelithiasis and steatorrhoea. The mainstay of treatment is surgical resection; other aspects of management remain uncertain. We report 3 cases. Case 1: A 55 year-old female presented with abdominal discomfort and steatorrhoea. Computed tomography (CT) demonstrated a 9 cm pancreatic mass. Biopsy suggested a NET. Somatostatin (SMS) was 160 pmol/l (normal 0-150)...

IntroductionMilk-Alkali Syndrome is defined by the triad of hypercalcaemia, acute renal failure and metabolic alkalosis. It was first described by Sippy in 1915 after people were treated with the Sippy regimen for peptic ulcer disease.Case reportA 76 year old woman was referred to the Endocrinology Clinic after she was initially presented to the Gastroenterolgy team with altered bowel habits, hypercalcaemia (...

We present a 23 years old woman presenting in the 22nd week of pregnancy with 3 months history of facial hirsutism and progressive deepening of her voice. There had been an episode of vaginal bleeding during the 8th week of pregnancy. Prior to pregnancy the patient had been well and had had no symptoms suggestive of hyperandrogenism. On examination she had facial hirsutism. Her voice was deep. Florid abdominal striae were noted. Examination was otherwise unremarkable.<p cl...

Polycystic ovarian syndrome (PCOS) is a common disorder affecting women of childbearing age. The clinical triad of PCOS includes: hirsuitism, oligo/amenorrhoea and ultrasonographic appearances of PCOS. However, this triad could occur in other disorders such as late onset congenital adrenal hyperplasia (CAH). Although CAH is mainly diagnosed in childhood, it could occur in adults. In this abstract we describe a patient who presented with features of PCOS, the final diagnosis, h...

Once daily Thyroxine is the treatment of choice for hypothyroidism. The dose of Thyroxine needed varies with a mean of 1.6 mcg/kg bodyweight a day. The most common cause for requiring larger doses is non-compliance although other causes such as malabsorption and drugs should be excluded. In this abstract we describe two patients with hypothyroidism that required large doses of thyroxine secondary to poor compliance in which supervised once weekly thyroxine therap...

The prevalence of primary hyperparthyroidism (PT) in the general population is 0.15%. The incidence in pregnancy is unknown; however primary hyperparathyroidism during pregnancy poses significant maternal and fetal complications. Complications to the mother include nephrolithiasis, bone disease and muscle weakness. Fetal complications include fetal loss, intrauterine growth retardation, postpartum neonatal tetany and permanent hypoparathyroidism. The symptoms of PT are similar...

A 55year old man with neurofibromatosis type 1 and hypertension presented with a 1 month history of recurrent falls. Examination revealed an unsteady gait with poor co-ordination, impaired joint position sense and a positive Romberg’s test, with no other abnormal neurological findings.An MRI spine revealed an expanding intramedullary lesion T8-L1 with a differential diagnosis of an ependymoma, astrocytoma and intradural extra medullary schwannoma.</...

A 51 yr old woman presented to ENT surgeons with nasal polyps. Since examination revealed a multi-nodular goitre, large hands and prognathism, acromegaly was suspected. MRI of the pituitary arranged, was normal. Two years later, nasal polyps returned. CT on this occasion showed evidence of polyps with sinusitis but again a normal pituitary fossa. She was referred to a rheumatologist for carpal tunnel symptoms, the features of acromegaly were rediscovered and she was referred t...

We report the case of a seventy year-old type 2 diabetic man presenting with a fifteen year history of erectile dysfunction. He had micro- and macrovascular complications of diabetes and liver cirrhosis secondary to Hepatitis C infection. Investigations showed a high total testosterone of 32.3 nmol/l, raised SHBG at 127 nmol/l with elevated LH 20.4 IU/l and FSH 14.9 IU/l. Initial calculated free testosterone was 281 pmol/l with a bioavailable testosterone of 1.67 nmol/l, both ...

Here we discuss two cases of adverse systemic effects of inhaled corticosteroids.A 38-year-old lady presented with lethargy and was noted to be cushingoid, with round face, central adiposity, and bruising. She had history of allergic rhinitis and asthma. She was receiving beclometasone both as nasal spray 100 μg b.d, and as inhaler 400 μg b.d. for the last 10 years. She had only received, a one-week course of oral steroids for acute asthma in t...

The anti-natriuretic properties of growth hormone (GH) are well established. GH deficiency (GHD) results in salt and water depletion and studies confirm that replacement leads to sodium and vasopressin-mediated water retention, in patients with intact posterior pituitary function.We report the case of a 20-year-old male patient with septo-optic dysplasia, fixed cranial diabetes insipidus (DI) and an abnormal thirst threshold. He first presented after bir...

BackgroundIn postmenopausal women, rapidly progressive hirsuitism or virilization raises the suspicion of an androgen-secreting tumor. Adrenal tumours are usually ruled out by hormonal testing and imaging studies. Small virilizing ovarian tumours may not be detectable by imaging studies.CaseA 61-year-old woman presented with hirsutism and male-pattern baldness developing over a two year period. 40 years previ...

We report the case of a 70 year-old-lady with a background of type 2 diabetes and hypertension who was admitted with a history of self-neglect. She had burns affecting her hands which she had sustained after falling asleep next to the fire five weeks previously. Over the preceding three months, the patient had also deteriorated in terms of self-care, appetite, mobility and control of her blood sugars.On examination, the patient was noted to have severe u...

Subclinical Cushing’s syndrome (CS) has not been adequately characterised and the natural history is unknown. We report two cases of subclinical CS that presented as perforated duodenal ulcers (DU) and in both cases the disease rapidly progressed to overt CS.Case 1A 60-year-old women presented with perforated DU requiring laparotomy and repair. Abdominal CT scanning demonstrated a right adrenal mass 4.2 cm. There were no clini...

We report the case of a 26 year old man who presented to his GP with infertility; biochemical investigations revealed elevated serum free thyroid hormones (FT4 41 pmol/l (12–22); FT3 13.4 pmol/l (2.8–7.1); and a normal TSH (2 pmol/l (0.27–4.2). He was referred to the endocrine department.On examination, he was found to be clinically well though thin (BMI 18), anxious and tremulous. His heart rate was 110 bpm and blood pressure was normal. ...

ObjectiveTo describe a few cases of patients presenting with various unusual causes of hypercalcaemia to a District General Hospital.MethodsThree case histories, including detailed results of laboratory tests, are presented, and the findings are discussed.ResultsIn the first case we describe an eighty year old patient recently started on lithium carbonate for mani...

Radioimmunoassays are used to measure hormones and the technique is based on recognition of an antigen by antibodies largely derived from animal sources. Heterophilic antibodies have been reported to cause interference in 0.05–0.5% of immunoassays. We present a case in which the presence of heterophilic antibodies led to unnecessary interventions.A 32 year old gentleman was referred to our centre to localise neuroendocrine tumour. He presented with ...

ObjectiveTo describe two cases of patients presenting with abdominal pain to the gastroenterologists. These were diagnosed with primary hyperparathyroidism and adrenal insufficiency respectively.MethodsTwo case histories, including detailed results of laboratory tests, are presented, and the findings are discussed.ResultsWe present a 62 year old gentleman who was ...

Fleet Phospho-soda is frequently used to prepare bowel for gastrointestinal investigations or surgery. We report an 85 year old male who had severe life threatening hypocalcemia after using fleet. He was admitted for bowel preparation for colonoscopy due to altered bowel habits, weight loss and anaemia. Clinical examination was unremarkable. His investigations showed Hb-12.0 gm/dl, normal renal function (Serum creatinine -105 μmol/l), normal liver function but for a raise...

A 22-year old lady was referred with a history of fatigue, generalised aches and pains. Investigations revealed persistently low potassium on few occasions. There was no history of diarrhoea or vomiting. No laxative, diuretic or liquorice abuse. PMH: treated hypothyroidism and Idiopathic thrombocytopenic purpura. She weighed 46 kg and her BP was 115/63. Further investigations: sodium 140 mmol/l, potassium 2.6 mmol/l (3.5–5.0), bicarbonate 28 mmol/l (22–28), magnesium...

A 39 yr-old female with a past medical history of a non-metastatic ductal breast carcinoma, presented to hospital with a two-week history of vomiting and dizziness. Clinical examination was essentially normal apart from pigmentation of her mastectomy scar, palmar creases and buccal mucosa. Investigations revealed a plasma sodium (Na) 102 mmol/l, potassium 4.9 mmol/l, plasma osmolality 219 mOsm/kg, urine osmolality 173 mOsm/kg and urine Na 36 mmol/kg. She was treated with fluid...

A girl with family history of a disorder of sex development (DSD) was referred for biochemical investigations and genetic analysis. Parents were consanguineous and a sibling was thought to have partial androgen insensitivity although androgen receptor gene analysis does not fully explain the phenotype. A maternal uncle with perineal hypospadias and a maternal aunt also had the mutation. One sister was normal, one brother had dextrocardia and another brother had mental retardat...