Endocrine Abstracts

Introduction: Aminoglycoside exposure may result in hypomagnesemia, hypocalcaemia and hypokalemia. We describe a case of severe hypomagnesemia due to gentamicin therapy.Case report: A 46-year-old lady presented with ‘pins and needles’ and muscle cramps two weeks after being treated with gentamicin for biliary sepsis. Trosseau and chovstek signs were positive. Investigations showed hypokalemia, hypocalcaemia and hypomagnesemia (0.25 mmol/l (0.74...

Introduction: Lithium-induced nephrogenic diabetes insipidus (NDI) occurs in approximately 20% of patients on chronic lithium therapy, and additionally 30% of patients have impaired concentrating ability of urine. Perioperative precipitation of NDI is an uncommon phenomenon complicating fluid management in a surgical patient and masking signs of renal hypoperfusion.Case: A 70-year-old man on chronic lithium therapy for bipolar disorder presented with 24 ...

A 51-year-old gentleman underwent a thyroidectomy 7 years ago for a benign multinodular goitre. Unfortunately, as a consequence of the surgery he became hypocalcaemic secondary to hypoparathyroidism. He was commenced on calcichew 1 tablet daily, calcium carbonate ‘500’ twice daily, vitamin D injections and 1- alphacalcidol 1 mcg daily. Initially, his PTH remained detectable and therefore it was hoped there would be some recovery, but over time this was proven not to ...

Testosterone is frequently used by bodybuilders to increase muscle bulk. It is associated with polycythemia. We present a case of a bodybuilder with polycythemia vera taking testosterone injections presenting with a stroke.A 38 years old bodybuilder, a non-smoker was admitted with sudden onset of vertigo, slurring of speech and weakness of left leg. Symptoms resolved within few hours. He had a large right sided cerebellar infarct 9 years ago and few tran...

A 34-year-old lady presented with polyuria and polydipsia 21 months post Caesarian delivery of twins. She had no peri-partum complications but immediately post partum, had noted increased thirst – she noted a particular strong craving for cold soft drinks. She had obesity and a positive family history for diabetes but screening for diabetes was negative. She also noted cessation of her menses. A gynaecologist who assessed her found her to have mild hyperprolactinaemia for...

A 43-year-old policeman was referred for investigation of recurrent symptomatic hypomagnesaemia. He initially presented with a one week history of dizziness, headaches, and ‘funny turns,’ on a background history of bronchial asthma, reflux oeosphagitis and hypertension. Initial investigations demonstrated hypocalcaemia, hypomagnesaemia and hypophosphataemia. These disturbances were attributed to his thiazide diuretic which was subsequently discontinued; his symptoms ...

Diabetic retinopathy remains the leading cause of blindness in the developed world resulting in significant morbidity for the diabetes population. As yet the specific pathogenesis remains elusive. Endogenous growth hormone (GH) is implicated in the development of retinal new vessels that characterize proliferative retinopathy. Both endogenous GH and its active protein, Insulin like growth factor-1 (IGF-1) have been found to be at high levels in diabetes, especially in patients...

Parathyroid carcinoma accounts for 0.5–5% of primary hyperparathyroidism. Preoperative diagnosis is difficult.A 33-year-old butcher presented in July 2007 with a 3 month history of nausea, abdominal pain, loss of appetite, general weakness and 1 stone weight loss. He denied polyuria, polydipsia or bone pain.Past history included Raynaud’s disease, depression and panic attacks. His regular medications were omeprazole and p...

Ovarian hyperthecosis is a rare cause of androgenic alopecia in postmenopausal women. The physiological levels of androgens, secreted by ovarian stromal cells, are greatly increased with hyperplastic or neoplastic transformation leading to possible clinical consequences.We report a case of a 56-year-old woman with type 2 diabetes presenting with hirsuitism and a history of male pattern hair loss over a two year period. Biochemistry showed elevated levels...

The link between exogenous steroid use and hypothalamo–pituitary–adrenal (HPA) axis suppression is well established. We present an unusual case where the use of an intra-oral steroid paste transiently obscured the diagnosis of Addison’s disease.A 45-year-old lady presented to hospital with a several week history of weight loss, nausea and vomiting, lethargy and postural dizziness. Physical examination was unremarkable except for hypotensio...

Cushing’s syndrome and obesity share clinical similarities. Here we present a 31-year-old lady with type 2 diabetes, renal failure, polycystic ovarian syndrome, depression, hirsutism and morbid obesity, whose abnormal phenotype and biochemistry normalised with weight loss.She was admitted with a history of recent onset recurrent hypoglycaemia and poor mobility. A detailed history revealed increase in weight over a 10 year period associated with irre...

An elective total thyroidectomy was performed on a previously well 45-year-old nurse for toxic multinodular goitre. The operation was uneventful and the patient was discharged. She was re-admitted two days after the operation, with paraesthesia and muscle spasms affecting the face and hands. She was found to be hypocalcaemic, corrected calcium 1.83 mmol/l. She was treated with intravenous calcium gluconate, oral calcium and 1-alpha calcidol. Parathyroid levels were undetectabl...

Osteomalacia is most commonly caused by vitamin D deficiency. This typically results in features of secondary hyperparathyroidism and hypophosphataemia. PTH secretion is however dependant on normal serum magnesium levels. Hypomagnesaemia due to malabsorption, diuretic or laxative abuse may lead to functional hypoparathyroidism despite typical features of osteomalacia.A 24-year old Afro-Caribbean woman presented with bilateral knee and upper back pain wit...

A 59-year-old lady was admitted with lethargy and dehydration in October 1998 and investigations confirmed primary hyperparathyroidism with corrected calcium 4.49 mmol/l (N: 2.1–2.6). After fluid resuscitation, she underwent parathyroidectomy and biopsy revealed parathyroid hyperplasia. Post-operatively, her calcium remained normal until November 2000 when her corrected calcium was 3.05 mmol/l with PTH 311 ng/l (N: 12–65). Sestamibi scan failed to local...

Klinefelter’s syndrome is the most common cause of primary testicular failure, resulting in impairment of both spermatogenesis and testosterone production. It is a chromosomal disorder characterized testosterone deficiency with elevated gonadotropin plasma levels and the treatment involves supplementing testosterone. In Klinefelter’s syndrome there is an increase of certain systemic diseases including venous thromboembolism. It is nevertheless more frequent than in a...

Introduction: Thyrotoxicosis is one of the common referrals to the endocrine clinic. Management of the thyrotoxicosis depends on establishing the correct aetiology. The aim of the audit was to compare the management of patients with thyrotoxicosis against the guidelines proposed by the Royal College of Physicians.Methods: One hundred and two consecutive patients referred to outpatient endocrine unit in a University Hospital over 6 months were included. D...

Objective: The objective was to explore the experiences of women with polycystic ovary syndrome (PCOS), attending a generic lay-led self management programme. The aim was to assess their concerns and expectations, and the extent to which the course addressed these.Method: Sixteen women volunteered to attend a generic lay-led self management course, following a call for participation at two PCOS clinics and publicity in local media. Participants were wome...

Objective: To describe a postmenopausal lady with hirsutism secondary to a rare leydig cell tumour of the ovary.Case history: A 55 year lady who attained menopause at the age of 49 was referred to us by GP for facial hirsutism of 5 years duration. She was bothered by recent excess hair growth of 4 months duration on the face and arms. She had no other virilising symptoms.On examination, she appeared cushingoid, had a BMI of 31, had...

We report a case of hyperparathyroid crisis presenting with bradycardia (junctional rhythm) in a 65 years old ex nurse with manifestations of hypercalcemia of more than 10 years duration. She presented with palpitation, feeling light headed and not being herself for a day. She found her pulse to be 30/min, which triggered her admission to the accident and emergency department. She was not in any medication to cause hypercalcemia. On examination, she was dry and her thyroid was...

Since July 2005 our centre has offered an e-mail enquiry service to General Practitioners. This service was established for two reasons, firstly to create a more efficient way of dealing with clinical enquiries from primary care and secondly with a long term objective to reduce GP referral rates. The service is manned by Endocrine/Diabetes Specialist Registrars and is part of their training commitment. Compared to telephone calls it gives the registrar more chance to think thr...

We describe our patient, a 50 year old lady who developed Addisons disease 10 years ago with typical signs and symptoms of weight loss, hyperpigmentation, tiredness and postural hypotension. She is under follow up at our clinic for last 4 years. Her identical twin was diagnosed with Addisons disease and hypothyroidism at age 27 and with Coeliac disease when she was 43. Both of them are positive for anti-adrenal and TPO antibodies.Our patient developed le...

Introduction: About 3% of patients treated with amiodarone develop thyrotoxicosis (amiodarone induced thyrotoxicosis, AIT). Steroids and carbimazole are the main treatment options with surgical thyroidectomy performed in resistant cases. Radioiodine is believed to be unhelpful based on presumed poor radioiodine uptake by thyroid tissue saturated with iodine. We present a case of AIT with a low technetium uptake being successfully treated with radioiodine ablation.<p class=...

Phaeochromocytoma is an extremely rare cause of gestational hypertension. Failure to diagnose the condition can be catastrophic to both mother and foetus, therefore an early diagnosis and close co-operation between physicians, obstetricians and anaesthetists is essential.We present the case of a 24 year old woman, who was referred to her local maternity hospital at 34 weeks gestation as she was small for dates. Clinical examination was unremarkable, and ...

Primary hyperparathyroidism is a common endocrine disorder. Diagnosis is more frequently made where calcium testing forms part of routine screening bloods. The clinical profile has shifted from a symptomatic disorder with hypercalcaemic symptoms, kidney stones and overt bone disease towards a more asymptomatic state. The National Institutes of Health (NIH) have produced guidelines on diagnosis and management of primary hyperparathyroidism but no UK guidelines are in existence....

Introduction: The hypothalamus plays a pivotal role in maintaining body temperature.Insults to the hypothalamus can result in life threatening temperature disturbance.We describe a case of hypothalamic dysfunction presenting with poikilothermia that was managed with a special portable external heating vest.Case report: A 31 year old man presented in July 1992 with a subarachnoid hemorrhage which was managed s...

Insulinoma is a rare but potentially treatable cause of hypoglycaemia. We present a case where achieving a diagnosis of insulinoma was complicated by evidence of low serum insulin levels during documented biochemical hypoglycaemia.A 58 year old lady presented with weight gain and daily episodes of shaking, hot flushes and disorientation that were relieved by the ingestion of food. During symptomatic episodes home capillary blood glucose measurements sugg...

The efficacy of dopamine agonist therapy for complex solid and cystic macroprolactinoma is a subject of controversy among endocrinologists. Many believe that such therapy may not result in a clinically significant shrinkage of any cystic component of a macroprolactinomas.We present a case of cystic macroprolactinoma which responded damatically to dopaminergic therapy with recovery of pituitary function.A 22 years old male, presente...

Aim: To compare the use of glitazones against NICE guidelines. (Glitazone recommended as second line therapy in combination with metformin or sulfonyl urea in patients with intolerance or contra-indications to any of the two, not as monotherpay or triple therapy or in combination with insulin).Methods: Patients on glitazone therapy (n=60) were randomly identified from a pharmacy data base from August to December 2006. Retrospective case note revie...

Objective: To audit the investigation and diagnosis of severe hyponatraemia (serum sodium ≤125 mmol/l) in elderly (age ≥65 years) medical in-patients admitted with this problem.Method: Standards for the investigation and diagnosis of hyponatraemia were designed after literature review and discussions with local endocrinologists. Elderly patients with hyponatraemia on admission were identified retrospectively over a 12 month period from the la...

Background: Although colonic polyps are associated with states of GH excess, no association with gastric polyps has been reported. We describe 2 patients who were treated with rhGH for non-GH deficient growth disorders and who were subsequently found to have gastric polyps.Patient 1: A girl aged 13.6 year with short stature was found to have Turner’s syndrome in the course of being investigated for abdominal pain, diarrhoea and rectal bleeding. Endo...

A previously well 26-year old male developed polydipsia and polyuria in July 2002. Cranial diabetes insipidus was confirmed on water deprivation test and hormonal profile showed testosterone deficiency. MRI showed abnormalities of the pituitary stalk with lesions in the skull. On questioning, the patient had noticed painful swellings on his scalp. This raised suspicion of Langerhans’ cell histiocytosis (LCH) and skull biopsy confirmed diagnosis. He was commenced on vasopr...

Introduction: The commonest cause of orbitopathy is Graves’ disease but the differential diagnosis includes primary and secondary neoplasia, inflammatory, vascular and infective causes. We report an exceedingly rare case of orbitopathy as the presenting feature of Acromegaly.Case report: A 43 year old lady presented with ‘periorbital puffiness’ and irritable eyes. Clinical evaluation revealed orbitopathy and magnetic resonance imaging (MRI...

A 72-year-old gentleman was diagnosed with primary hyperparathyroidism in 2005. He had 6 admissions in a year with hypercalcaemia refractory to treatment with conventional agents. On each admission he was treated with intravenous pamidronate and fluid resuscitation. This resulted in an average stay of 16 days and an average cost of £4800 per admission.A single parathyroid adenoma was diagnosed on sestambiscan. He was not considered fit for surgery d...

Increasing use of abdominal imaging has led to an increased detection of incidental adrenal masses. These cases are usually referred to the endocrinologist for further investigations. We present two cases with unusual incidentalomas. Case 1: a 63-year old man presented with acute abdominal pain. He was haemodynamically stable and afebrile. Investigations revealed normal biochemistry, amylase and clotting. White cell count raised, haemoglobin and platelets normal. Chest ...

A 24-year-old women (wt 63 kg, BMI 23) presented with history of secondary amenorrhea. Menarche occurred at age 16 years and was followed by a regular cycle (7/35). She started the combined oral contraceptive pill (OCP) at 18 years of age for menorrhagia and stopped this 16 months before her presentation, before undergoing elective surgery. Four months after discontinuing the OCP she experienced a single episode of PV bleeding, but otherwise remained amenorrhoeic. Past history...

Fasting hypoglycaemia may occasionally be caused by non islet cell tumours (NICTH). Mostly they are large retroperitoneal, intra-abdominal or intrathoracic tumours that are slow growing though malignant. We report a case of recurrent hypoglycaemia associated with metastatic ovarian carcinoma.About 66-year-old lady was admitted with increasing abdominal distension and shortness of breath over 6 weeks duration. There was no significant past medical history...

A 62-year-old lady was referred to our Department with a nine-month history of facial swelling, easy bruising, and centripetal weight gain. She had a longstanding history of depression, hypertension, and osteoarthritis. She was taking citalopram, buspirone, atenolol and bendrofluazide. A few months earlier she had received bilateral intra-articular knee injections at her local hospital for arthritic pain. On examination she had thin skin with multiple bruises, facial puffiness...

Prolonged use of oral corticosteroid treatment is associated with cushingoid side effects and HPA suppression. We are increasingly seeing similar problems associated with nasal steroid therapy.Case 1: A 41-year-old lady with history of asthma, allergic rhinitis and nasal polyps presented with a clinical appearance of Cushings syndrome. Her medication included Becloforte inhalers 250 mg tds and Betamethasone sodium phosphate nasal drops 0.1% 2 drops bd, b...

A 79-year-old lady presented with a 6 months history of confusion and slurred speech and was found to have recurrent spontaneous hypoglycaemia (plasma glucose 1.3, 1.8 and 2.6 mmol/l). Pituitary and adrenal function were normal, and raised insulin (102 pmol/l) and C-peptide (630 pmol/l) levels confirmed the diagnosis of insulinoma, which was identified as a solitary 2 cm mass in the head of pancreas. Treatment with diazoxide 100–150 mg tds led to normalisation of g...

We undertook a retrospective audit of patients with primary hyperparathyroidism. Patients were identified from the Bradford Endocrine Database.About 101 patients were identified. 13 were incorrectly labelled and excluded. Case records of 88 patients; median age 64 (range 17–87) years, 69 F:19 M, were examined. At diagnosis median corrected calcium was 2.72 (range 2.45–3.69) mmol/l, median PTH 14 (range 3–182) pmol/l and mean 24 h urine cal...

Introduction: Research suggests long-term survivors of childhood cancer have an increased risk of manifesting the metabolic syndrome including insulin resistance (IR) despite many survivors of childhood malignancy if anything being underweight. It has been suggested growth hormone deficiency may be a factor in IR.Case report: We present a 20-year-old boy with partial hypopituitarism following allogenic bone marrow transplant in 1993 for treatment of acut...

An 80-year old female was admitted to Ipswich Hospital with anorexia, constipation, thirst and fatigue. Her examination was unremarkable apart from 2 cm splenomegaly. Investigations revealed renal impairment (creatinine 293 umol/l), normal electrolytes along with hypercalcaemia (corrected Ca 3.54 mmol/l), normal PO4, normal CXR, PTH of 3.3 pmol/l (NR -normal range- 0.95–5.7 pmol/l) and protein electrophoresis was normal. Abdominal USS confirmed splenomegaly. Af...

A 37-year old woman developed grand-mal seizures shortly after having given vaginal birth at term. Three hours later, her newborn son also had a tonic-clonic seizure. Following the convulsions, maternal fractures of the humerus and the neck of femur were detected.The pregnancy had been uneventful except for hip pains for 4 weeks prior to delivery. For years, the patient had been ingesting 5 l of bottled water daily. Labour had set in spontaneously and sh...

Introduction: Cyproterone acetate is a progestogen that has an androgen receptor antagonist activity.There is contradictory data regarding its effects on the growth of meningiomas; it has been suggested that progestins promote growth as progesterone receptors predominate in meningioma tissue, but in vitro, it inhibited the growth of meningioma cells. We present a case where a brain meningioma may have grown following anti-androgen therapy for hype...

Background: Obesity levels and the demand for obesity services are increasing. Those with morbid obesity require specialist care and consideration for bariatric surgery. Based on recent figures and NICE guidelines, at least 35 000 individuals in Birmingham alone may be suitable for surgery. Numbers currently assessed are limited due to lack of resource and expertise. This audit reviewed baseline characteristics of patients referred for specialist obesity and bariatric services...

We present the case of a 44-year-old woman from Afghanistan who had lived in the UK for 2 years. She was admitted to hospital with headache. She gave an 8 months history of generalised headache, secondary amenorrhoea and weight gain. There was no history of polyuria or polydypsia. Examination revealed a bitemporal hemianopia to red pin confrontation. Investigations confirmed that she was panhypopituitary. In addition, she was vitamin D deficient. Imaging of the pituitary gland...

We report a case surviving hyperparathyroid crisis, with the second highest serum calcium concentration ever reported.A 45-year-old female with type 2 diabetes and mixed hyperlipidaemia was admitted with extreme lethargy, dehydration and drowsiness. Serum corrected calcium was 6.49 mmol/l (2.2–2.6 mmol/l), phosphate 1.79 mmol/l, intact parathyroid hormone (PTH) 1059 pg/ml (15–65 pg/ml), creatinine 124 μmol/l and urea 16.0 mmol/l.<p cla...

A 23-year-old Rwandan lady was 27 weeks pregnant and reported feeling non-specifically unwell for 3 days followed by 24 h of diarrhoea and vomiting. She denied fever, rash, polyuria, polydipsia, weight loss or foreign travel. She has sickle cell trait with no other past medical history. Laboratory glucose at 16 weeks gestation was 5.1 mmol/l.On admission she looked unwell and was tachycardic and dehydrated. Her capillary blood glucose was 17.9 mmol/l and...

We present the case of assumed ectopic GHRH from residual bronchial carcinoid on the basis of an elevated serum GH, an elevated IGF-1 impaired glucose tolerance and an acromegalic appearance. The patient was diagnosed with a left bronchial carcinoid in 1985, aged38 years. Treated with a left pneumonectomy. She remained well until she presented in 1994 with an oesophageal variceal bleed. She had no evidence of portal hypertension or liver disease. CT chest revealed a mediastina...

A 56-year-old gentleman diagnosed with galactosemia by open liver biopsy at the age of one was referred by GP with longstanding complaints of increasing lethargy, low mood and chronic anaemia. Initial investigations revealed normocytic anemia with a normal renal function, ESR, haematinics, calcium and myeloma screen. Endocrine tests revealed anterior hypopituitarism (TSH: 4.4, FreeT4: 4.5, LH: 0.5, FSH: 2, testosterone: <0.1, prolactin: 27, IgF-1: <3.3, random cortisol...

A 67-year-old lady with no significant past medical history presented with a left-sided neck swelling. An FNA under ultrasound scan guidance revealed malignant cells of indeterminate origin. Left neck exploration revealed an enlarged left lobe of thyroid and a retrosternal mass extending into the aortic arch. A left thyroid lobectomy and removal of retrosternal mass was performed and the histology showed a thyroid colloid goitre and low grade paraganglioma respectively. She wa...

A 44-year-old Caucasian female eight years previously had been diagnosed auto immune Addison’s disease and started on replacement with hydrocortisone 30 mg daily in divided doses and fludrocortisone 0.1 mg was started on lithium carbonate. One month later when her lithium level was 1.0 mmol/l she was noted to have a sodium of 129 mmol/l, potassium of 5.2 mmol/l and fludrocortisone was increased to 0.3 mg om. Over the next year as her lithium dose was increased as her reni...

Oestrogen implants are one method of delivering hormone replacement therapy to post-menopausal women. The use of such implants has been associated with the phenomenon of tachyphylaxis, where menopausal symptoms return before the next implant is due, even in the presence of normal or high serum oestrodiol levels. It has been suggested that intervals as long as one year should be left between implants and that trough oestrogen levels should be measured prior to implantation....

A 78-year-old female presented with acute onset of severe headache and vomiting. Sub arachnoid haemorrhage was suspected but a CT brain scan was ‘normal’ and CSF bilirubin absent.Three months later she complained of lethargy and a thyroid function test suggested secondary hypothyroidism. Further investigations confirmed partial hypopituitarism (growth hormone preserved) and review of the previous CT scan suggested the presence of a pituitary ma...

A 43-year-old lady with no significant PMH presented with recent onset of polyuria and polydypsia shortly after commencing an SSRI. Cranial diabetes insipidus was diagnosed on water deprivation test and good clinical response to DDAVP was seen. Anterior pituitary function was normal though prolactin elevated. MRI demonstrated a 4 mm enhancing lesion in the hypothalamus in association with a bright pituitary stalk. CXR was normal, ESR and serum ACE negative. The differential di...

A 37-year-old woman, 30 weeks pregnant, presented with palpitations and abdominal cramps. Ultrasound demonstrated a supra-renal abnormality and MRI showed a 10 cm heterogeneous left adrenal mass. For five years she had experienced episodes of palpitations, shaking, sweating and chest tightness. She was investigated by a neurologist and diagnosed with temporal lobe epilepsy. During pregnancy the frequency of episodes increased. Lamotrigine was started, but at each dose increase...

History: A 63 year old female presented with nausea, vomiting and loss of balance. She had no other symptoms. An MRI of the brain revealed a large incidental pituitary lesion occupying both the sella and suprasellar region, causing distortion of the optic chiasm and tracts. She had no headache, visual disturbance, tiredness, thirst or daytime frequency although she had long standing nocturia.Examination: Visual fields showed mild bitemporal desaturation ...

A 45-year-old man presented with sudden onset left sided pleuritic chest pain and breathlessness. He was hypotensive and severely hypoxic and was admitted to the Intensive Care Unit. A chest X-ray was normal and an urgent computerised tomographic (CT) pulmonary angiogram showed the presence of extensive pulmonary emboli. The CT scan also showed bilateral adrenal “incidentalomas” with the right one being 8 cm and the left 6 cm in its longest dimension. He responded we...

A 32-year-old man was referred for investigation of spastic paraparesis. There was a history of two seizures in the past. Of note was that his mother had previously been investigated for a mild spastic paraparesis, and had been diagnosed with idiopathic generalised epilepsy. MRI scan of the cervical and thoracic cord appeared normal but the MRI brain scan showed diffuse high signal intensity areas in the occipital white matter of both cerebral hemispheres. An EEG suggested idi...

A 71-year-old man with carcinoma of prostate and bony metastasis, presented with acute bradyarrhythmia, severe hypocalcaemia and acute renal failure 72 h after intravenous infusion of zoledronate. Before therapy, serum calcium was 2.14 mmol/l (normal, 2.10–2.55 mmol/l), serum phosphate 1.4 mmol/l (normal, 0.8–1.5 mmol/l), serum creatinine 95 umol/l and eGFR 74 ml/min. 25OH vitamin D was not measured. Three days later he presented with a syncopal episode. Initial bloo...

Introduction: We present an interesting case of cyclical Cushing’s syndrome who became too unwell to loose her job and confidence as a result of the condition prior to diagnosis of her condition.Case report: A 44-year-old social worker referred by GP in 2007 for investigation of ‘possible hypo- or hyperadrenalism’. She had been diagnosed with polycystic ovary syndrome in 2002 (based on symptoms and ovarian ultrasound) and recently diagnose...

A 24-year-old girl was referred with a massive thyroglossal duct cyst (TGDC) and an intra-cystic papillary thyroid cancer (PTC). The impressive clinical photographs, striking radiological images and histology slides are presented.She presented eight and half months post partum with a 10 cm midline neck lump of 4 years duration. She was asymptomatic and was on levothyroxine for Hashimoto’s thyroiditis.Clinically, there was a cy...

Intranasal presentations of pituitary tumours are rare. Management can be difficult and delayed due to their location and extension. Macroprolactinomas are uncommon and can often pursue an aggressive clinical course, including invasion into the nasopharynx.We describe three cases of prolactinomas that initially presented to the ENT Department as nasal polyps. Table 1 highlights their clinical features and response to treatment. Recurrence of nasal polyps...

Acromegaly is a rare disorder which the Royal College of Physicians/Society for Endocrinology Guidelines-Pituitary Tumours (1997) suggest should be referred to a specialist centre if suspected. We audited the diagnosis and management of acromegaly in our unit (population covered 250 000) over a 10-year period (1997–2007). Twelve patients (6 male, 6 female), mean age 48.5 years (29–69) were confirmed as having acromegaly. The mean time from referral to first clinic vi...

Growth hormone replacement has not been recommended for use during pregnancy, due to lack of controlled trials to study its effects on the mother and the baby. We present a patient with hypopitiutarism on rhGH replacement which was continued during pregnancy with no adverse effects.A 35 years old lady, diagnosed ages 30 with pan-hypopituitarism secondary to non-functioning pituitary adenoma, she underwent trans-sphenoidal resection of the adenoma in 2002...

Introduction: Hyponatraemia is commonly encountered in clinical practice in the context of multiple pathology and marked morbidity. A study was conducted to examine the quality of clinical assessment, care offered and frequency of specialist opinion sought in hospital in-patients with severe hyponatraemia (<120 mmol/l).Audit standards included assessment of fluid status, measurement of ‘baseline investigations’ (urinary sodium and paired os...

APS I is a rare condition with autosomal recessive inheritance. We report a series of three sisters (Table 1), affected by APS I, who all had a mutation of the autoimmune regulator (AIRE) gene. An index case (A) died at 26 years old due to vascular complications.The management of primary hypoparathyroidism in case A, who also had type I diabetes was also complicated by nephrocalcinosis, renal calculi, chronic renal failure and vascular calcification. In ...

Introduction: Fructose-1,6-bisphosphatase (FBPase) deficiency is an autosomal recessive disorder causing failure of gluconeogenesis. Multiple mutations may produce the disease, of which 960/961insG is the commonest and is pan-ethnic. Hypoglycaemia, ketosis and lactic acidosis associated with the condition are triggered by infection, fasting or fructose/sucrose/sorbitol intake.Aim: To present an atypical case of FBPase deficiency and to demonstrate findin...

We describe two cases of sarcoidosis associated hypercalcaemia, renal failure and anaemia mimicking lymphoma. The diagnosis was made by lymph node biopsy. Within weeks of starting oral steroids, symptoms resolved and biochemical abnormalities almost normalized.Case 1: A 66-year-old lady, presented with generalized weakness, lymphadenopathy and splenomegaly. Hb 96 g/l, MCV 91, urea 16.6 mmol/l, creatinine 227 umol/l, eGFR 15 ml/min, serum calcium 3.4 mmol...

Recently updated international guidelines recommend specialist surveillance of adults with Turner Syndrome (TS). In 2005, we established a dedicated TS clinic, attracting referrals from our general endocrine service and other specialities including primary care.Twenty-three patients currently attend of whom 9 were previously under endocrinology review. Karyotypes include 45XO (8/23), 45XO/46XrX (4/23), and 45XO/46XiXq (3/23). Mean (±S.D.</sma...

Introduction: Dopamine Agonists are important in the management of endocrine disorders such as acromegaly and hyperprolactinaemia. Recent studies have shown that Cabergoline used in high doses to treat Parkinson’s disease is associated with cardiac valve fibrosis.Methods: We identified patients on long term high-dose cabergoline for the management of acromegaly. The following data was analysed: demographic data, duration of treatment, cumulative dos...

We identified 65 patients from the departmental endocrine database who had received testosterone (T) therapy. 62 records were reviewed and 7 patients excluded as they received T <6 months. We undertook a retrospective audit examining the routine monitoring of these patients. These 55 patients included; 21 patients with primary hypogonadism (PH) and 34 patients with secondary hypogonadism (SH); mean age (range) 52 (28–75) and 59 (35–91) yrs respectively. 46 (84%) ...

The potential for primary tumour relapse is an important consideration during GH replacement therapy (GHR). We report 3 cases of relapse of intra cranial germ cell tumour (GCT) during GHR.Patient 1: An 11 year-old female presenting with visual loss and short stature due to a suprasellar malignant teratoma. She was successfully treated with bleomycin, etoposide and cisplatinum (BEP) and intrathecal chemotherapy. She suffered a first relapse two years late...

Introduction: Congenital adrenal hyperplasia (CAH) is an inherited disorder, most commonly caused by enzymatic deficiency of 21-hydroxylase (CYP21A2). The non-classic or late-onset form is one of the most common autosomal recessive diseases in women, but the diagnosis is only rarely made in men unless they happen to present with testicular or adrenal masses or infertility.Case report: A 65-year-old man presented with recurrent episodes of postural dizzin...

We describe the symptoms and review the laboratory findings in a case of patient with Mauriac syndrome.A 19 years old Type 1 diabetic male with past history of multiple admissions to intensive therapy unit (ITU) with diabetic ketoacidosis (DKA) in a period of 3 years was admitted to ITU with DKA. On his examination protuberant abdomen with hepatomegaly, cushingoid feature, normal BMI and growth impairment were seen. His sexual development was normal. He ...

We present, the first reported case of twins conceived by Assisted Reproductive Technology (Gamete Intra-fallopian Transfer Therapy; GIFT), both diagnosed to have Complete Androgen Insensitivity Syndrome (CAIS).Eighteen-year-old twins presented to the Endocrine clinic with primary amenorrhoea. They were conceived by GIFT and were born premature at 34 weeks and delivered by forceps. On examination, they were two 18 year olds with normal female appearance,...

Aim: To assess whether adults in Scotland currently receiving growth hormone (GH) meet the NICE criteria for starting and continuing GH replacement.Methods: We surveyed all endocrinologists in Scotland and identified the main centres using GH replacement. A cross-sectional case note review was carried out of all patients commenced on GH.Results: About 208 patients (51% women; 24% professionals, 90% Caucasian) were identified, 69 of...

Introduction: Metyrapone is used as holding treatment in patients with Cushing’s syndrome awaiting definitive treatment or as adjunctive treatment following pituitary irradiation. The metyrapone day curve is used to assess the adequacy of suppression of cortisol synthesis, and in our institution involves taking four blood cortisol samples at 9 am, 12 pm, 3 pm and 6 pm respectively. A mean result between 200 and 300 nmol/l is deemed satisfactory.Aims...

The risk of death with severe hyponatraemia is well known. What is less clear is the mortality risk according to the pattern of the developing hyponatraemia.Methods: From our laboratory database we retrospectively collected data of all adult patients with severe hyponatraemia (<120 mmol/l) over 6 months. Of 49 155 samples, 101 (0.2%) were <120 mmol/l, obtained from n=54 patients. Two paediatric cases were excluded leaving n=52. Norm...

Objectives: The audit was carried out to inform the development of a local protocol for investigation of patients with suspected sporadic phaeochromocytoma.Method: Details of all UCAT tests performed in 2006 for a catchment area of approximately 500 000 were obtained.Questionnaires were used to obtain further information about all the patients referred from primary care and secondary care patients with UCAT > upper limit of nor...

Objectives: To assess the physiological benefits and side effects of testosterone replacement therapy (TRT) in routine use.Methods: A search of a historic database of 427 men using TRT identified 135 men lost to follow-up, 19 men who had insufficient data and 273 current attendees who formed the study group. A retrospective review of clinical records focused on bone mineral density (BMD) as the beneficial outcome and raised haematocrit (HCT) and prostate...

A 46-year-old male presented in 1981 with a 2 year history of profuse watery diarrhoea, three stone weight loss and fatigue. On examination he appeared gaunt with diffuse muscle weakness. Investigations revealed hypokalaemia (2.5 mmol/l; NR 3.5–4.5), achlorhydria and a raised vasoactive intestinal polypeptide (VIP) (1500ng/L; NR 0–100). Abdominal CT showed a 5 cm pancreatic mass but with no focal liver pathology. A distal pancreatectomy was performed. Histology confi...

Aim: To determine the aetiology of Addison’s disease in patients admitted to a tertiary care hospital in South India from 2001 to 2007.Method: Forty-five patients with Addison’s disease were admitted during this period. Etiological work up was carried out in all these patients.Results: Thirteen patients (29%) had a possible infectious cause: 11.1% histoplasmosis, 8.8% confirmed tuberculosis, 4.4% presumed tuberculosis, 4...

17-beta hydroxysteroid dehydrogenase 3 (17βHSD3) converts androstendione to testosterone in the male testis. Testosterone is necessary for the development of the external male genitalia, a failure of which can result in sexual ambiguity.We present a 22-year-old individual presenting with vaginal bleeding on attempted intercourse. At puberty (13–14 years old), being brought up as a girl, she began to virilise alongside minimal breast development...

Hydrocortisone treatment in septic shock promotes shock reversal and reduces mortality. We hypothesised the doses that used (200–300 mg/2 h) would result in plasma cortisol levels sufficient to saturate the 11 beta-hydroxysteroid dehydrogenase 2 enzyme (11 beta-HSD 2) with cortisol inactivation overload. Consequently cortisol would access the mineralocorticoid receptor producing mineralocorticoid effects. Hypertensive metabolic alkalotic effects would tend to counteract t...

Background: Body Mass Index (BMI) and waist circumference (WC) are currently used to assess obesity. BMI and WC do not take into account fat/muscle distribution or allow for distinctions between gender, age or ethnicity. WC reflects abdominal fat distribution more accurately, but is operator-dependant and variable in terms of reproducibility. BVI is a totally new, reproducible and novel concept using a 3D body scanner and appropriate software, to measure total body and 8 body ...