Endocrine Abstracts

Familial hypopituitarism is a heterogeneous group of disorders with variable clinical, biochemical and genetic characteristics. X-linked forms have been described in rare kindreds, though clinical and molecular features are not well defined. We present a case of X-linked hypopituitarism in a young male.The patient, currently 39 years, had an early course complicated by neonatal jaundice, seizures and subsequent failure to thrive. Hypothyroidism was diagn...

Diabetic ketoacidosis [DKA] is known to be precipitated by number of clinical situations which lead to increased production of counter regulatory hormones Substance abuse has recently been highlighted as a risk factor in DKA. Cocaine has not received sufficient emphasis. We report a case of multiple admissions for DKA associated with cocaine use.A 23 year old male student was brought to emergency room for altered sensorium of ten hours duration. He was a...

Growth Hormone (GH) deficiency in the adult is associated with sub-optimal bone mineral density (BMD) and reduced bone turnover. GH replacement therapy results in increased bone turnover and new bone formation with biphasic changes in BMD: We report a case in which the anabolic effects of GH on bone precipitated profound Vitamin D (Vit D) deficiency.The patient 56-year-old man with panhypopituitarism following treatment for acromegaly commenced adult GH ...

Antiphospholipid antibody syndrome is characterised by recurrent venous or arterial thrombosis, thrompocytopenia and/or recurrent fetal loss in the presence of antiphospholipid antibodies. Antiphospholipid antibody syndrome may be seen in-patients with established Systemic Lupus Erythematosus or alternatively as isolated disease in-patients with no evidence of a lupus type abnormality. Antiphospholipid antibodies have been also associated with a variety of neurological and car...

Dexamethasone is frequently used in diagnostic work-up of patients suspected of having Cushing's syndrome. We report the case of a young woman whose cortisol production paradoxically increased following dexamethasone administration. A 27 years old woman presented with intermittent facial rounding (see photos), weight gain (6 kg), hirsuitism, spontaneous bruising, menstrual irregularity. On examination the only feature to suggest Cushing's syndrome was very thin skin on the bac...

BACKGROUNDAngina and Myocardial infarction have been reported in hyperthyroidism. Intense coronary artery spasm can be life threatening as it can lead to ventricular fibrillation and haemodynamic instability as reported in this patient.CASE HISTORYA 45-year-old lady was admitted with a history of head aches, palpitations, diarrhoea and weight loss. She was subsequently found to have thyrotoxicosis with the th...

A 30-year-old woman with long standing type 1 diabetes presented with recurrent severe hypoglycaemia. One month earlier she had given birth to her first child. Before pregnancy her HbA1c had been 7.8 to 9.2 percent (RR 3.1 to 5.0 percent) but improved by the third trimester to 6.8 percent. Before pregnancy her total daily insulin dose was 50 units and by the third trimester it had only increased by 25 percent to 60 units. The pregnancy and birth were uneventful with no hypogly...

A 54-year-old man with long standing coeliac disease and moderate dietary compliance was admitted with lethargy and feeling unwell. His blood pressure was 129 mmHg systolic, 91mmHg diastolic and serum sodium 112 millimoles per litre (RR 136 to 145). He was otherwise well with normal visual fields. A 250-microgram Synacthen test demonstrated a basal cortisol of 630 nanomoles per litre rising to 983 nanomoles per litre after 30 minutes. His TSH was undetectable, Ft4 9.6 picomole...

Graves' disease, which is characterised by thyrotoxicosis and a diffuse goitre, is an autoimmune disease caused by thyroid-stimulating antibodies. The onset of Graves' disease whilst a patient is on immunosuppressive treatment is unexpected and remains a rarity.A 37-year-old Caucasian female presented to the thyroid clinic with a two week history of sweating, nausea, tremor, heat intolerance and palpitations. She was known to suffer from severe pustular ...

Transformation of a micro-prolactinoma to a macro-prolactinoma during pregnancy is rare. During treatment of micro-prolactinoma it is conventional to stop dopamine agonist treatment prior to or at conception and only re-image the pituitary if the patient presents with symptoms or signs of pituitary enlargement. We present two cases of micro-prolactinoma transforming to macro-prolactinoma during pregnancy. Neither case presented with symptoms or signs of pituitary enlargement. ...

Background Disturbances of calcium metabolism are frequent in patients with untreated hyperthyroidism, however they are typically mild and asymptomatic (1).Methods We describe a case of a 56-year-old female who presented with severe, symptomatic hypercalcaemia and hyperthyroidism secondary to Grave's disease. She initially presented with symptoms of weight loss, generalised malaise and lethargy. Investigations revealed hyperthyroidism and a positive TSH ...

We report two patients (AB 41 years, LS 55 years) presenting with symptoms of hyperprolactinaemia. Prolactin levels were moderately elevated: 1539 (AB), 1186 (LS) (NR 59-619 mU/L). The remainder of the pituitary profile was normal. Neither patient had visual field defects. MRIs (without contrast) reported pituitary macroadenoma with suprasellar extension but no optic chiasm compression. The initial diagnosis was of probable non-functioning adenoma causing stalk compression. Bo...

29-year old woman was admitted with tetany & severe hypocalcaemia despite treatment with high dose alpha-calcidiol (6 micrograms/day) and Calcium (8.0 g/day).PMH: Six years previously she had subtotal thyroidectomy for non-toxic goitre in another Department. Postoperatively she required Thyroxine, but was lost to formal endocrine follow-up. Five years later she presented with abdominal discomfort and occasional diarrhoea. Investigations performed by ...

A 42 year-old man presented in 1994 with a two-week history of headaches, drowsiness and confusion. There had been reduced libido and weight gain for 2 years. There was testicular atrophy and morbid obesity, but no neurological abnormality. CT scan showed a large, partially calcified, suprasellar tumour extending up into the third ventricle. Downward displacement of the posterior clinoid was identified with features of haemorrhage peripherally. MRI scan showed tumour of mixed ...

A 12-year-old girl was referred to the endocrinology clinic for investigation of short stature. She had signs of early puberty yet had precocious menstruation associated with menorrhagia. She gave a recent history of recurrent epistaxis. There was no family history of a bleeding disorder. She reported cold intolerance, dry skin and a tendency for hair to fall.On examination she was pale with no evidence of purpura or significant bruising. There was no en...

Pituitary resistance to thyroid hormone is a very rare cause of hyperthyroidism. It is characterized by normal, or elevated TSH concentration with high concentration of thyroxine and triiodothyronine.Here, we present a case of a 24-year-old woman who suffered from mild thyrotoxicosis and diffuse goiter for ten years. For several years she was under treatment with methimazole, but without any significant improvement, apart from the enlargement of the thyr...

A 49 year old lady was referred to the endocrine clinic for investigation of intermittent hyponatremia. She had two admissions in the year with lower abdominal, back pain and dark urine and treated for urinary infections.Serum sodium was 112,114 millimoles per litre, which responded to fluid restriction.She had a past history of syncopal episodes, hypertension treated with atenolol, amlodipine. She was a nonsmoker, alcohol intake was 14 units per week.</...

Craniopharyngiomas are tumours of the squamous epithelium, which arise in the sellar and/or suprasellar regions from embryonic squamous cell rests of the involuted hypophyseal-pharyngeal duct. They account for approximately 3% of intracranial neoplasms, present with symptoms relating to pressure effects on adjacent organs and often have an unpredictable behaviour. Corticotroph adenomas, usually measuring a few millimeters in diameter, are found in 10-12% of surgically removed ...

Peptic ulceration is associated with hypercalcaemia in a number of disease states including isolated primary hyperparathyroidism and multiple endocrine neoplasia (e.g. MEN1 syndrome where hyperparathyroidism co-exists with gastrinomas and the Zollinger Ellison Syndrome). Hypercalcaemia is also known to enhance gastrin secretion. We were therefore interested in investigating whether any association exists between serum calcium concentrations and the findings at oesophago-gastro...

A 72 year old gentleman with an eight month history of chronic, episodic diarrhoea had been investigated as an out-patient. Colonoscopy and biopsies, barium meal and follow-through, coeliac screen and thyroid function tests were all normal. He subsequently presented with an acute deterioration in diarrhoea, and severe hypokalaemia, acute renal failure and a profound metabolic acidosis. Haemofiltration and aggressive fluid management were required to compensate for gastro-intes...

A 38 year old lady presented at 30 weeks gestation with a 3 week history of headaches and 5 day history of blurring of vision, worse in the left eye. Visual field testing revealed a bitemporal hemianopia. MRI scan of the pituitary showed appearances typical of a macroadenoma which was lobulated in appearance with suprasellar extension (max height 13mm) and compression of the optic chiasm. Endocrine tests indicated that thyroxine was low for the 3rd trimester (79nmol/l), with f...

We present two patients with unusual manifestations of sarcoidosis and review gonadal involvement in this rare but important disease. A 27 year old man presented to the Ophthalmologists at our hospital with a red eye. He was diagnosed with anterior uveitis and commenced on topical corticosteroids. Following discovery of a testicular mass, he underwent testicular ultrasonography which demonstrated bilateral hyperechoic lesions. Histological examination of an open surgical biops...

INTRODUCTION:True hermaphroditism is rare but has been reported in more than 400 individuals.Thediagnosis requires the presence of both ovarian and testicular tissue in either the same or opposite gonads.The external genitalia may simulate those of either a male or a female or may be ambiguous.Diagnosis and treatment at an early age is important .CASE REPORT:A 14 years old phenotypic ma...

Hormonal therapies in the form of oestrogens, anti-androgens and progestogens are often used in the treatment of male-to-female transsexuals. We present the case of a 36 year old phenotypic male with karyotype 46XY who presented with normoprolactinaemic galactorrhoea likely to be related to prior oestrogen administration. He had been self-administering oestrogen and progesterone preparations continuously for 7 years (aged 26 - 33 years) in an attempt to develop female phenotyp...

A 59-year-old lady presented with 2 days of increasing confusion, hallucinations and drowsiness. Her family reported lethargy, weight gain and changing appearance over several months.On examination she was profoundly hypothyroid with typical coarsened facial features and dry skin. She had pulsus paradoxus, BP 120/70mmHg and Glasgow coma scale was 11/15. She was transferred to our care.Free thyroxine was <3.0pmol/L and TSH 30.8mu...

A 49 year old man presented in 1998 with marked visual disturbance. MRI scan revealed a very large pituitary tumour with compression of the anterior optic pathways. Prolactin was markedly elevated at 259,000 milliunits per litre confirming the diagnosis of a giant prolactinoma. A trial of dopamine agonist therapy did not result in any improvement in vision and he proceeded to pituitary surgery. Vision improved and prolactin levels were suppressed by dopamine agonist therapy wi...

Crooke Cell Adenoma (CCA) is a rare variant of ACTH-secreting corticotroph adenoma. Its importance derives from its aggressive behaviour, association with Cushings Disease and differentiation from metastatic carcinoma. A sixty-year old shopkeeper presented with a two-year history of generalised aches and pains, proximal muscle weakness, increased facial hair and easy bruising. She had also noticed an increased abdominal girth and facial rotundity. There was an eight-year histo...

A recognised complication of small cell lung cancer is adrenocorticotrophic hormone hypersecretion (ACTH). The profound biochemical derangement and subsequent symptomatology can be resistant to established medical therapeutic interventions. Our case illustrates the role of low risk palliative laparascopic surgery for resistant disease.Mr SR, a 47yr ex-smoker presented with breathlessness and haemoptysis of 3 months duration, there was no past medical or ...

A 45 year old male was referred in November 2001 to the endocrine clinic with the complaints of sudden onset marked thirst, polyuria with nocturia (six times) for two months. His past medical history includes a diagnosis of solitary sacral plasmacytoma diagnosed in 1998, based on bone marrow aspirate and trephine in the presence of the paraproteinaemia. He was successfully treated with radiotherapy. There has been no history of head injury and has not been on regular medicatio...

We present the case of a 49 year old man who initially presented to his GP with complaints of tiredness, weight gain and tingling in his right hand. GP requested thyroid hormone measurements which showed FT4 level of 3.4 picomoles per litre and TSH 10.89 milli international units per litre. The inappropriately low TSH level raised the possibility of central hypothyroidism and triggered further investigations which revealed a low level for GH, LH, FSH, testosterone and cortisol...

Hypopituitarism due to neurosarcoidosis is mainly seen in patients with extensive systemic disease. However, pituitary involvement can occur without other classical features of the disease, as illustrated by the following cases.Case 1: An Afro-Caribbean male presented in 1986 with failure of pubertal development aged 22. Initial investigations demonstrated hypothalamic hypogonadism, secondary hypothyroidism and a suboptimal cortisol response to hypoglyca...

A 17 year old phenotypically female Middle Eastern patient presented with a short history of abdominal pain. Laparotomy and biopsy confirmed extensive mixed germ cell tumour with yolk sac elements. After referral to London, remission was achieved with 6 cycles of Bleomycin, Etoposide and Cisplatinum (alpha feta protein decreasing from 12 714 to 5 milli units per litre). Examination revealed short stature, absent pubertal development and primary amenorrhoea. She had palmar, buc...

Familial Hypocalcuric Hypercalcaemia (FHH) is an autosomal dominant condition associated with inactivating mutations of the human calcium sensing receptor (CaSR) gene (heterozygotes). Neonatal Severe Primary Hyperparathyroidism (NSHPT) affects infants who inherit two such inactivating copies (homozygotes). NSHPT is frequently fatal without parathyroidectomy (PTx).Between 1984 and 2003 we have diagnosed and treated seven children (4M, 3F) with NSHPT. All ...

Congenital adrenal hyperplasia(CAH) and other disorders of adrenal steroid synthesis compromise synthesis of cortisol and aldosterone. Deficiency of 7-dehydrocholesterol-7-ene-reductase (DHCR7) in the Smith Lemli Opitz syndrome (SLOS) also affects cholesterol synthesis. New-born infants have dysmorphic facial features, microcephaly, second and third toe syndactyly and genital malformations. Later there is mental retardation and problems with cardiac and intestinal function thr...

A 37 year old Afro-Caribbean woman, with panhypopituitarism secondary to a pituitary macroadenoma was referred from a DGH physician to the neurosurgeons. She complained of headaches and blurred vision. Initial presentation was with malaise, weight loss, vomiting, abdominal pain, and secondary amenorrhoea. She was found to have panhypopituitarism and was on thyroxine and hydrocortisone replacement therapy. Abdominal CT had showed widespread axillary para aortic and iliac lympha...

Multiple Endocrine Neoplasia Type 2B is a dominantly inherited disorder characterised by mucosal neuromas, medullary thyroid carcinoma (MTC), phaeochromocytoma, and intestinal ganglioneuromatosis. We report the case of a 34-year-old woman who presented with chronic diarrhoea. She had a longstanding history of gastrointestinal symptoms including diarrhoea since the age of 7 and had been investigated extensively for over 20 years at three different centres, but no definitive dia...

Anterior pituitary dysfunction is a well-recognized complication of traumatic brain injury (TBI) but recovery is an exceptional event, with only three previously published case reports.We report a case of a 25 year old man who suffered severe TBI in a road traffic accident in 1997. His neurological recovery was slow and incomplete with significant cognitive deficit and recurrent seizures. He developed polyphagia and his weight increased by 20 Kilograms i...

A 71 year old woman presented to neurologist with taste disturbance, tingling and stabbing pains across the face. Examination, blood tests and MRI scan of the brain were normal. Later that year she lost considerable amount of hair, developed severe onycholysis, nausea and loose stools. Weight started to decline and skin became darker. Endocrine referral was made.On examination she had titubation, partial alopecia and severe onycholysis. BP 140/80 mm Hg, ...

The porphyrias encompass a group of disorders characterized by inherited or acquired derangements in the biosynthesis of heme.Porphyria cutanea tarda is the most common form and is characterized by chronic skin lesions and hepatic disease.It may rarely be complicated by hepatocellular carcinoma. We present a 67 year old man who presented with hepatocellular carcinoma on a background of previous porphyria cutanea tarda.The patient was diagnosed with Type ...

A 62 year old lady presented to the clinic with hirsutism, virilisation and temporal balding. Her past medical history included type 2 diabetes, hypothyroidism, ischaemic heart disease and peripheral vascular disease. Her body mass index was 30 kilograms per metre squared and she had mild cliteromegaly. Her serum testosterone was 3.6 nanomols per litre.She had a high dose dexamethasone suppression test and CRH test to exclude Cushings Syndrome or Disease...

TESTOSTERONE-REPLACEMENT STIMULATED HYPERPROLACTINAEMIAR Sodi, R Fikri, M Diver, L Ranganath & J Vora*.Departments of Clinical Chemistry and Endocrinology*Royal Liverpool and Broadgreen University Hospital,Liverpool, UK. L7 8XP.Around half of all men with macroprolactinomas have hypogonadism and may require exogenous testosterone replacement. However, testoste...

A 33 year old male was referred with poorly controlled hypertension. He gave no other past medical or family history. Despite therapy with multiple agents blood pressure was poorly controlled at 200/130 mm/Hg. Initial investigations which included renal ultrasound, magnetic resonance angiography and urine catecholamine excretion were all negative. Plasma renin concentration was suppressed (1 mu/ml/L, normal range 5 to 50) and plasma aldosterone was raised at 650 pmol/L (normal...

A 67 year old man with 1 month history of malaise was referred when his thyroid profile suggested secondary hypothyroidism with a fT4 of 4.9 picomoles per litre, fT3 3.4 picomoles per litre and TSH 0.03 milli units per litre. Physical signs were unremarkable. Investigations:- cortisol (random) 294 nanomols per litre, prolactin 960 micro units per millilitre, testosterone < 0.04 nanomols per litre, FSH 5.2 units per litre, LH 0.07 units per litre and IGF-1 17.7 nanomols per ...

A 76yr old lady presented to A&E with 'collapse and fall', 2 days following self-discharge for the same complaint. She had a medical history of type 2 diabetes on Gliclazide 80 mg o.d. and osteoarthritis of the spine.She was noted to be tanned with pigmented palmar creases and had marked postural hypotension. Biochemistry showed serum sodium 124 millimols per litre, potassium 4.6 millimols per litre and cortisol 43 nanmols per litre. A short synacthe...

A 14 year old girl was referred with a diagnosis, made at birth, of congenital adrenal hyperplasia. She had undergone clitoral reduction and vulvovaginoplasty at age 2. Her height had been on 10th-25 th centile, and, at presentation to us, she was taking prednisolone (7.5milligrams in divided doses) and fludrocortisone 0.05 milligrams. At age 14 her height dropped to the 3 rd centile. She was hirsute, obese and had abdominal striae. A variety of steroid regimes only led to an ...

A previously well 55 year old man presented to his family practitioner with asix week history of dyspepsia. He denied any other symptoms including no weight loss. Clinical examination was normal.A gastroscopy was organised which revealed a 10 millimetre sessile polyp located at greater curvature at the lower body of the stomach. The polyp was removed by snaring. Histological examination of the polyp revealed heterotopic pancreatic ...

A 59 year old man was admitted with epistaxis. Blood pressure on admission was 213/110 mmHg. Past medical history included hypertension (3 years) and a cerebrovascular accident 5 years previously. Drug therapy included an ACE inhibitor, beta-blocker and thiazide diuretic. He denied thirst, polyuria or weight loss. He was an ex-smoker. On examination he was not Cushingoid. There were no diabetic complications.On block analysis potassium was 2.2mmol/l and ...

Background Tuberculosis of the thyroid gland is an extremely rare disease. Thyroid dysfunction is uncommon in this patient population with the majority of reported cases being clinically and biochemically euthyroid.Case History A 28-year-old man from India and resident in Ireland for previous 2 years presented with a six week history of cough, generalised weakness, night sweats, heat intolerance and 9 kilogram weight loss. On examination a ...

INTRODUCTION: Intracranial tuberculomas are relatively rare lesions which may become associated with endocrinologic disturbances. We present a case of a 15-year old girl with a series of endocrine disorders commencing at 4 due to the existence of suprasellar tuberculoma lesions.CLINICAL-LABORATORY EVALUATION: A 3.5 year old girl presented with a positive tuberculin test. Since the rest of the examination and laboratory evaluation were normal, the child r...

A 27 years old primigravid lady presented with nausea and recurrent vomiting at 35 weeks gestation. She was diagnosed with hyperemesis gravidarum at 5 weeks gestation. TPN was commenced but she continued vomiting. On examination, foetal size was normal for gestational age, BP was 105/70 mmHg. Electrolytes were normal except potassium of 2.7 mmol/l, LFT was normal, albumin 29 g/l and uric acid 307 umol/l. 16 days after admission, she rapidly deteriorated with weakness and plasm...

We present two patients who were originally diagnosed with polycystic ovarian syndrome (PCOS). A 23 year old was referred with deteriorating hirsutism. Her menstrual cycle was reported as entirely regular following the menarche at age 13. Examination revealed her to be obese with a body mass index of 33 and hirsute, with a Ferriman and Gallway score of 19. She had a typical PCOS appearance on trans-vaginal ultrasound scan. Additional investigations in endocrine clinic revealed...

A 28 years old lady presented at 21 weeks gestation with bipedal oedema and 4 week history of easy bruising and weakness and aching of the thighs. She had no significant past medical history and had prior uneventful pregnancy 17 months previously. On examination she was hypertensive (180/100 mmHg), had puffy face, prominent abdominal striae and bilateral leg oedema. Serum potassium was 2.6 mmol/l and random plasma glucose was 8.6 mmol/l. OGTT confirmed gestational diabetes and...

Reactive hypoglycaemia is usually mild, often presents with non-specific symptoms and may be difficult to distinguish from neuropsychiatric illnessThe diagnosis should be considered when these symptoms are related to eating. We present a severe case of idiopathic hypoglycaemia which responded dramatically to the alpha-glucosidase inhibitor acarbose.A 25 year old woman presented with a nine year history of intermittent thirst, feeling hot, distal paraesth...

INTRODUCTION: The main local complications of radioiodine are transient sore thoart and dysphagia and less commonly hoarseness of voice. Laryngeal palsy is extremely rare. We describe a case of right complete laryngeal paralysis complicating a radioiodine therapy for thyrotoxicosis. CASE STUDY: A 73 year old man who suffers from Graves' disease, mild stable Graves' ophthalmopathy and recurrent hyperthyroidism received a second dose of Radioiodine (15 MiliCuries). He presented ...

Introduction: haemangiopericytoma is a rare soft tissue tumour originating from pericytes and manifest rarely as hypoglycaemia that can be difficult to treat. We report a case of haemangiopericytoma induced hypoglycaemia treated successfully with radiotherapy.Case report: A 72-year-old lady presented with an episode of confusion. She had had similar episodes usually in the early morning hours. She had had a large bladder haemangiopericytoma removed surgi...

Short stature in thalassemia major: multiple aetiologies.A 24 year old Asian male with beta-thalassemia major was referred with symptoms of tiredness, weight gain, muscle weakness and depression. He had been treated elsewhere with blood transfusions, desferrioxamine and had undergone a splenectomy. He was known to have underlying cardiac dysfunction and was diagnosed to have hypogonadotrophic hypogonadism at the age of 17 years and primary hypothyroidism...