Endocrine Abstracts

Historically, acute neurosurgical decompression has been considered treatment of choice for pituitary apoplexy with some studies advocating a conservative approach. We describe a patient, with reduced consciousness due to apoplexy of a gonadotroph adenoma, in whom there was spontaneous tumour shrinkage. A 68-year-old gentleman presented following a collapse with hypothermia, bradycardia and bitemporal hemianopia. Initial investigations showed low plasma sodium and glucose. Ove...

We report a 29 year old man (staff nurse) who initially presented with a grand mal seizure in October-2003 to the neurologists. A preliminary diagnosis of epilepsy was made, though the subsequent EEG only revealed predisposition to epilepsy. In December 2004 he again presented with a grand mal seizure despite being on Epilim. He also complained of episodes of lethargy, sweating and inability to concentrate towards the end of his shifts at work for a few months prior to this. B...

A 37-year-old female was referred with recurrent episodes of altered consciousness and disorientation. She described a three-year history of recurrent “funny turns”. They started with a sensation of warmth accompanied with cold sweat followed by unfamiliarity with the surroundings and cognitive impairment. The attacks increased in frequency gradually over time. There was a tendency for the attacks to occur in the morning, before bed and 3–4 hours after food. The...

Thyroid dysfunction is not uncommon in pregnancy and is associated with various maternal, foetal and neonatal complications. We report the occurrence of neonatal hyperthyroidism in two successive pregnancies in a post radio-ablation mother with Graves’ disease who is on thyroxine replacement.Mother: A 30-year-old lady, treated for Graves’ thyrotoxicosis with radioiodine 10 years ago, was on thyroxine 100 mcg replacement for hypothyroidism. She ...

Objective: Benzodiazepines are among the most commonly used symptomatic treatment of insomnia and anxiety. Human and animal studies suggest that benzodiazepines suppress the hypothalamo-pituitary adrenal (HPA) axis. We report on a rare case of isolated ACTH deficiency due to long-term treatment with flunitrazepam.Case report: A 66-year-old man presented to our outpatient department with persistent feelings of physical exhaustion, low vitality, reduced da...

Objective: Congenital adrenal hyperplasia results from 21-hydroxylase deficiency in more than ninety percent of cases. The classical form of 21-hydroxylase deficiency presents in the neonatal period with virilization or adrenal insufficiency, with or without concurrent salt wasting. We report on a rare case of classic 21-hydroxylase deficiency diagnosed in late adulthood.Case report: A 39-year-old male patient presented for workup of infertility. Urologi...

We report a 49 year-old female patient who was referred to the endocrine clinic with two months history of heat intolerance and weight loss. She denied any symptoms related to her eyes. Past medical history included hypertension, epilepsy and manic-depressive psychosis, and she was on lithium, atenolol, phenobarbitone, doxazosin and phenytoin. On examination, there was a 45 g firm symmetrical multi-nodular goitre (MNG) with normal examination of both eyes. Thyroid function tes...

A 72 year old, non-diabetic, woman was referred with recurrent severe hypoglycaemia. Twenty-one years ago she was investigated for hypoglycaemia when inappropriate hyperinsulinaemia had been confirmed. Although a CT of her abdomen could not demonstrate an insulinoma she underwent a distal pancreatectomy and subsequent histology showed islet cell hyperplasia. She was managed with dietary intervention and diazoxide. At the time of the current referral she was suffering daily sev...

Introduction: In the last decade, after the revolution in December 1989, osteoporosis started to be seen as an important problem for the women in Romania too. This screening that last three years is trying to find the prevalence of osteoporosis and how is she influenced by different factors as: age, body mass index, smoke, coffee, and years from menopause.Method: We have investigated 440 caucasian women with age between 30 and 80 years old divided in thr...

The link between thyrotoxicosis and coronary artery disease is complex with associations between therapy and vasculitis, as well as thyroid hormone excess and coronary artery spasm described. We present a 37-year-old female with a one-year history of Graves thyrotoxicosis treated with Propylthiouracil, who presented acutely with chest pain and a left hemiparesis. Typical electrocardiography changes and elevation of Troponin T confirmed a recent myocardial infarction, and CT sc...

There are at least 60 reports of pregnancy and acromegaly. The maternal and foetal morbidity relates to associated diabetes mellitus and hypertension rather than maternal growth hormone excess. A 32-year-old Asian female who spoke no English, was noted to have acromegalic features during a hospital admission for pneumonia. She was 6 weeks pregnant and had been recently diagnosed with type 2 diabetes mellitus. Acromegaly was confirmed with GH nadir 105 mU/l during 75 g OGTT and...

We report two cases of MIBG avid secretory phaeochromocytoma in 2 middle-aged ladies. Adrenalectomy, after standard preparation, was performed successfully and histology confirmed complete excision of a phaeochromocytoma in both cases; however, there was capsular infiltration and metastasis to a neighboring lymph node in the first case. In this case, surveillance CT scans 3 and 6 months later showed left adrenal bed recurrence and rapidly growing lesions in the right lobe of t...

We report the case of a 55 years old female patient with parallel appearance of mucoepidermoid carcinoma and papillary thyroid carcinoma. She had autoimmune adrenal insufficiency and a pulmonary adenocarcinoma cured by lobectomy and external irradiation six years before. She had been referred to our department because of a rapidly growing thyroid nodule. Aspiration cytology suspected papillary tumor and a tumor of non-thyroid origin as well. Thyroidectomy and bilateral neck ly...

We report a rare case of acute myeloid leukaemia (AML) with high risk cytogenetics and associated hypothalamic diabetes insipidus (HDI).A 48-year-old female presented to her GP with a 3-month history of tiredness and lethargy. Full blood count revealed haemoglobin 7.0 g/dl (MCV 103fl), white cell count 12.1×109/l (neutrophils 1.33×109/l), platelets 91×109/l; circulating blast cells were evident on the perip...

The localization of biochemically proven insulinoma remains a challenge despite the advent of more sensitive methods for radiological detection. We report a case with conflicting cross-sectional, angiographic and scintigraphic findings, in which selective angiography combined with intra-arterial calcium stimulation and hepatic venous sampling (ASVS) proved to be the most accurate localizing investigation.A 17-year-old female with cerebral palsy and learn...

APECED is an autosomal – recessive syndrome defined by two of the following conditions: chronic mucocutaneous candidiasis (CMC), hypoparathyroidism (HP) or Addison disease (AD). Other autoimmune endocrine or non-endocrine conditions may be associated, like thyroiditis, celiac disease, alopecia and nail dystrophy. APECED is caused by mutations in the AIRE gene, mapping to 21q22.3. We report here 4 cases with atypical or incomplete presentation, that have been geneti...

The degree of hormonal activity and the duration of active phase of disease are the most important factors in the pathogenesis of system complications, decreasing life span in patients with acromegaly. To determine the age-related features of the clinical course of disease 140 patients with active acromegaly were examined. All patients were divided into 3 groups: group 1 included 14 patients at the age of 20–39, group 2 – 40–59 (72) and group 3 – ≥60 ...

Sweet syndrome is a febrile dermatosis characterized by painful light red patches of quite different size involving various skin zones associated with flu like symptoms, arthralgias and rarely frank arthritis. Originally considered rare, over 500 cases in the past 10 years have been described. The etiology of Sweet’s syndrome is unknown, but a type of hypersensitivity reaction leading to stimulation of a cascade of cytokines has been strongly suggested. In very few cases ...

The integrity of bone marrow and its various haemopoeitic cells require several hormones including sex steroids. Sex steroids were used in the past to treat aplastic anaemia. A 27 years old Saudi male who underwent a resection of hypothalamic astrocytoma and developed panhypopituitarism was admitted to ICU with shunt related meningitis and noted to have thrombocytopenia of 90,000 anemia of 9.5 gldl, which progressed over the subsequent week following admission. He recovered fr...

In 1984 an 18-year-old girl was operated because of primary hyperpara-thyroidism (PHPT). Recurrence was seen 13 years later and another neck exploration was performed. Histological examination was consistent with both adenoma and hyperplasia.She had a history of urticaria pigmentosa since the age of one year. In 1991–94 she complained of syncope, weight loss, diarrhoea, abdominal pain and alcohol intolerance. Typical skin lesions were found. Total 2...

Brown tumours (osteitis fibrosa cystica) are the classic bone disease of hyperparathyroidism. Parathyroid carcinoma is an uncommon cause of PTH dependent hypercalcaemia. We present the case of a 63-year-old man who presented to the ENT department with persistent right-sided nasal obstruction and nasal swelling. He was otherwise asymptomatic. He had a long history of nasal polyps, which had recently been resected. Brown’s tumour of the maxilla was demonstrated on nasal bio...

Thyroid cancer is rarely seen in the hyperthyroid patient.We present the case of a 59 year-old lady who presented with marked weight loss of more than 30 kg in less than 6 months, lethargy, palpitations and sweats. Clinically she was obese and thyrotoxic with sweaty palms and a tachycardia. No goitre or neck masses were detected. Thyroid function tests confirmed thyrotoxicosis with free T4 89.1 pmol/l (Normal range 9.8–23.1), free T3 20.2 pmol/l (No...

High blood pressure is a common problem among patients in a Nephrology ward and outpatient clinic. However in those patients resistant to therapy, we must exclude a secondary cause. The authors present a case of a patient that was referred to our hospital due to complaints of headache, high blood pressure resistant to therapy (BP=240/130 mmHg), and images in renal ecography, which were compatible with enlarge left adrenal gland and left kidney atrophy. At admission the blood r...

Autoimmune hypophysitis is a rare disease with only 28 cases reported in UK so far. Subsequent pregnancy, especially after pituitary surgery, is even more rare. We report a 34-year-old lady who presented 5 weeks after the birth of her second child with visual loss and headache. Subsequent investigations revealed a pituitary macroadenoma with suprasellar extension and chiasmal compression. She underwent transphenoidal adenomectomy with complete recovery of vision. Preoperativel...

Adipsic diabetes insipidus (ADI) is a rare condition which has been reported following clipping of anterior communicating artery aneurysms, craniopharyngioma and brain trauma, but not with pituitary adenoma. We report a case of ADI following surgery for a pituitary macroprolactinoma. A 14-year-old boy presented with bitemporal hemianopia due to a large macroprolactinoma. Two debulking surgeries were performed without the development of diabetes insipidus. Following a third rad...

Long-acting somatostatin analogs are now increasingly being prescribed as adjuvant and primary therapy for the treatment of acromegaly. Many studies have shown them to be both effective and safe, by suppressing GH levels and normalizing serum IGF-1 levels in most cases.The aim of the study was to analyze the case report of a female patient with active acromegaly and evaluate the efficacy of long-acting synthetic analog of somatostatin (Sandostatin LAR) for biochemical control ...

A 72 years old lady was referred to endocrine clinic with raised serum calcium of 2.69 mmol/l and PTH of 99.6 ng/l (3.0–48.0 ng/l) detected during investigations for an abnormal skeletal survey. She was known to have osteoporosis from the age of 59 diagnosed on Dexa scan. Case notes revealed raised serum calcium of 2.52–2.60 mmol/l since year 2000. Her repeat serum calcium was 2.77 mmol/l with phosphate of 1.03 mmol/l and 25 hydroxy vitamin D of 36 nmol/l. She admitt...

This 48-year-old with consanguineous parentage presented at the age of 23 in 1980 with congenital bilateral sensorineural deafness and hypothyroidism requiring replacement with 150 mcg thyroxine. There was a family history of deafness and thyroid disease. A perchlorate discharge test was performed and 42% of the radioiodine within the gland was discharged by potassium perchlorate (NR <10%).Over the following decade she developed a diffuse goitre whic...

Riedel thyroiditis is an uncommon form of chronic thyroiditis in which the thyroid gland is replaced by fibrous tissue. The etiological mechanism underlying RT are unclear. The prevailing view is that it is part of a generalized fibro-inflammatory process also involving other organs. Therapeutic options are not standardized (surgery, corticosteroids, and more recently tamoxifene). The aim of this work is to present three new cases, and the favourable evolution observed in one ...

Background: Parathyroid carcinoma (PC) is a rare endocrine tumour, with difficult intraoperative recognition, histological diagnosis and imprevisible evolution. More unusual are the cases appearing at the patients with end-stage renal disease on maintenance hemodialysis (22 observations in medical literature).Case report: A 46 year-old man which suffered of chronic glomerulonephritis from 13 years, being on hemodialysis from three years, complains of ast...

Background: Multiple endocrine neoplasia (MEN) type 2B is an autosomal dominant condition characterised by aggressive medullary C cell tumours, phaeochromocytoma and a discrete physical appearance. A specific point mutation in the RET proto-oncogene is present in 95% cases; prophylactic thyroidectomy is recommended in the mutation carriers. Occasionally cases present with the characteristic physical appearance of MEN2B but no identifiable germline mutation or endocrinop...

Phaeochromocytomas and paragangliomas arising as part of familial syndromes such as multiple endocrine neoplasia (MEN)2 or von-Hippel Lindau syndrome (VHL) are more likely to be malignant and multiple. Recently the role of mutations in the SDH genes (encoding subunits of succinate dehydrogenase) have also been identified as important in the aetiology of such tumours. We report a case where identification of an apparently sporadic metastatic phaeochromocytoma was found to be co...

Introduction: Central Serous Retinopathy (CSR) is a condition characterized by the accumulation of sub-retinal fluid at the posterior pole of the fundus, creating a circumscribed area of serous retinal detachment. It is associated with increased levels of endogenous or exogenous glucocorticoids and has been described in patients with Cushing’s syndrome (CS).Here we report on two cases we recently managed in our unit, with central serous retinopathy ...

Background: The diagnosis of Cushing’s syndrome is based on clinical suspicion and biochemical confirmation. Most cases are caused by an ACTH secreting pituitary microadenoma. In its severe form and when untreated, Cushing’s syndrome is associated with high mortality. We report a case of untreated Cushing’s syndrome due to pituitary microadenoma 8 years after the earlier manifestations.Observation: A 21-years-old woman was referred for pro...

Background: Invasive pituitary tumors may behaviour like some pituitary carcinomas. Although invasiveness is not indicative of malignancy, it probably puts the patient at higher risk of developing a pituitary carcinoma. These are very rare and the diagnosis requires evidence of metastatic disease, either cerebrospinal or extracranial. Although de novo development cannot be excluded they usually present as typical pituitary adenomas, which reveal their malignant characte...

ACTH-independent micronodular adrenocortical hyperplasia is a rare cause of Cushing syndrome. In some forms of micronodular adrenal disease, darkly pigmented micronodules are seen in the presence of atrophy of the peripheral adrenal tissue. In most cases of pigmented micronodular hyperplasia Carney complex is associated with the disease. Here, we present a case of Cushing syndrome due to sporadic primary pigmented micronodular hyperplasia not accompanied by Carney complex....

Eating disorders are less common in men than in women. Furthermore, in males, a restrictive eating behaviour is frequently secondary to other psychiatric disorders. In case of suspected primary anorexia nervosa (AN), in male patients it is obviously impossible to rely on a typical clinical sign as is amenorrhea.Case description: A 23-yr old man came to our observation because of an important weight loss in the last two years (from 60 to 48 kg, body mass ...

In a small but not negligible proportion of thalassemic patients, a true growth hormone deficiency (GHD), not secondary to pubertal delay, can be documented. Among the features of adult GHD syndrome, osteoporosis leads to a 2.5-fold increase in fracture risk. Thalassemia is characterized by a peculiar bone disease leading to osteopenia. The effectiveness of GH treatment in GHD adult thalassemic patients has not been explored yet. We report here the case of such a patient, disp...

Clinical case: 24-year-old student nurse referred to the liver unit with a 6-month history of pyrexia, cognitive dysfunction and abnormal liver function tests. ERCP was normal; CT scan suggested multiple liver deposits; histology showed both fatty infiltration and focal cholangitis. Medical history included type 1 diabetes since age 7yrs; an unusual skin rash that spontaneously remitted 4 years previously; recurrent vulval ulceration, variously ascribed to candida and/or excor...

Objective and importance: Among pathologies associated with acromegaly, have great importance both colon benignant neoformations such polyposis, and cardiovascular complications such as miocardic hypertrophy, arterial hypertension, coronaropathy and valvulopathy.Clinical presentation: We report a case of 74-years-old woman with acromegaly, diabetes mellitus type II and hyperthyroidism, who was admitted at our clinic with symptoms of chronic febricula wit...

Gitelman’s syndrome (GS) is an autosomal recessive primary renal tubular disorder with hypokalemic metabolic alkalosis, hypocalciuria, and magnesium deficiency. The association of GS and type 1 diabetes is rare1, and bilateral hydronephrosis and hydroureter has not been reported.A 18-year-old female with known GS diagnosed at 17 years of age and type 1 diabetes diagnosed at 15 years of age was admitted to Leicester Royal Infirmary for pre...

A patient, female, 53 years old was admitted for investigation and treatment of active acromegaly. At the age of 33 on the basis of the clinico-hormonal and CT investigations was diagnosed mixed pituitary adenoma - somatoprolactinoma. GH was 15.4 ng/ml (0–10 in healthy), prolactin (prl) 2000 ng/ml (<580 in healthy). The short course of parlodel therapy had no effect. At the age of 40, she was performed with transsphenoidal adenomectomy. Afterwards, diabetes mellitus (...

We report a case of a 53 years old woman who presented asthenia, cramps, cutaneous hyperpigmentation, nausea, vomiting, vague and non-specific epigastric abdominal pain, weight loss and hypotension. She was diagnosed with Addison’s disease because biochemical data were indicative for autoimmune adrenal failure (positivity for adrenal cortex antibodies). Nevertheless during the following 9 years the patient began to note the progressive reduction of pubic and axillary hair...

A 24 yr old man complaining of visual disturbances for 7 weeks presented with acute severe headache and bitemporal visual field defects. A high density lesion in the pituitary fossa suggestive of pituitary apoplexy was initially observed on a CT scan but an MRI of the pituitary revealed an irregular structure in the suprasellar cistern and the differential diagnoses of a pituitary adenoma or an aneurysm were proposed. Routine haematological and biochemical investigations were ...

Background: Turner syndrome has well recognised cardiovascular complications that appear in up to 40% of the patients and are more common in monosomy X. Left sided obstructive lesions are relatively more frequent and predispose to aortic root dilatation and life threatening aortic dissection. Patients with bicuspid aortic valve, hypertension, coarctation and aortic stenosis are at high risk of aortic dilatation and dissection. Various follow up strategies are in use but there ...

A provisional diagnosis of paroxysmal atrial fibrillation with normal blood pressure and echocardiogram was made in a 58 years old man. He described ‘funny turns’ on standing during which he would become sweaty, tremulous with palpitations and headache and facial flushing preceded by pallor. The patient was otherwise fit and healthy with a BMI of 27.3 kg/m2; he used to drink about 15 pints of beer per week and smoke 11 cigarettes daily for the last 40 year...

Clinical case: A 21 year-old Caucasian kitchen porter presented with an episode of acute severe muscle weakness. He was receiving treatment for Graves’ disease which had been diagnosed two months previously. He was fully alert, normotensive, tachycardic, with a flaccid quadriparesis, diminished reflexes and flexor plantars. Sensation was not impaired and his muscles were diffusely tender on palpation. Blood tests revealed hypokalaemia (K+1.9 mmol/l), hypomagnes...

Although amyloid deposition can cause a goitre thyrotoxicosis secondary to amyloidosis is rare. We report a case of fatal systemic amyloidosis presenting as thyrotoxicosis.A 62-year-old previously healthy male presented with heat intolerance, weight loss and tremor. On examination he had moderate sized firm goitre and mild dysthyroid eye disease. Biochemistry confirmed thyrotoxicosis; serum free T4 47 pmol/l (normal 10–25) freeT3 14.4 pmol/l (normal...

A 24-year-old lady was initially presented with vomiting due to gastroenteritis and muscle cramps in 1993. Investigations revealed corrected calcium 1.65 mmol/l (range 2.2–2.6), phosphate 1.21 mmol/l (range 1.4–2.2) with intact Parathyroid hormone (PTH) 11 pmol/l (range 1.3–8.1) and potassium 3.1 mmol/l (range 3.5–5). She was found to have hypertension but no somatic signs. Ellsworth Howard test displayed a blunted response of cAMP and a normal phosphaturic...

A 68-year-old woman presented with hypertension, oedema, weight gain and moon face. She had signs of proximal muscle weakness, thinning of scalp hair and bruising on her legs. Initial tests showed 24 hour urine free cortisol elevated at 946 nmol (0–300 nmol).Serum cortisol showed no circadian fluctuation (0900: 1094 nmol/l, 2400 hrs: 886 nmol/l) and no suppression by dexamethasone (2 mg/24 h for 48 h: 1067 nmol/l). ACTH levels were slightly raised (...

A 36-year-old male presented to neurologists with tiredness and clumsy gait. Examination revealed normal cranial nerves, spastic paraparesis and bilateral extensor plantar response, absent vibration sense and ataxia. He was thought to have an inherited form of Spino-Cerebellar ataxia. His mother had developed similar neurological problems in her 50 s, and his maternal uncle had Addison’s disease.He was referred to endocrinologists because of the fin...

Hypocalcemic cardiomyopathy due to hypoparathyroidism is a very rare condition which responds favorably to vitaminocalcic treatment.We report the case of a 50 years old man who presented to our unit for general fatigue, apathy and cough lasting several years with a worsening during the last months, there was biological evidence of hypoparathyroidism with profound hypocalcemia (21 mg/l) hyperphosphoremia (53 mg/l) and undetectable PTH levels the CT scan s...

A 60-year-old Caucasian male was referred to our Endocrine unit with symptoms suggestive of adrenal failure (malaise and fatigue).A Synachten test confirmed the diagnosis (baseline cortisol <5 nmol/l, post Synachten 74 nmol/l) and indicated secondary adrenal failure (baseline ACTH undetectable). Further hormonal tests showed secondary hypothyroidism (TSH 0.43 mU/ml, FT4 7.1 pmol/l) and hypogonadism (testosterone <0.7 nmol/l, LH 0.6 U/l). Prolacti...

Background: Isolated secondary hypothyroidism is rare. In the majority of cases the causes are genetic (gene mutations) or structural (mass effect or infiltration). Structural causes are usually associated with simultaneous deficiencies of other adenohypophyseal hormones. We present an identical twin with isolated secondary hypothyroidism.Case report: 1st Twin – 26-year-old obese lady, of Afro-carribean origin, presented with tiredness, weigh...

A 35 years old male, automobile factory worker was brought to emergency room with suddden onset rapidly progressive flaccid quadriparesis of 12 hours duration. He was unable to stand or use his upper limbs. There was tingling in distal aspects of all four limbs. There was no loss of sensation, respiratory muscle, cranial nerve, or cerebellar involvement. He reported no other symptoms. There was no history of alcohol use, drug use, or exposure to sexually transmitted diseases. ...

Background: Hypereosinophilic syndrome is a rare condition, which is connected with a variety of diseases. Very infrequently, it occurs in association with malignancy denoting widespread metastases and poor prognosis. We describe a patient with hypereosinophilia and hypercalcemia as a manifestation of disseminated cholangiocarcinoma.Case description: A 54-year-old man with a history of alcoholic hepatitis for the last 10 years was admitted due to severe ...

We report the case of a 42-year-old transsexual with Di-George syndrome (DGS) presenting in adulthood with profound hypocalcaemia and personality disorder. The patient had multiple hospital admissions with episodes of deliberate self-harm and recurrent seizures. Routine investigations revealed hypocalcaemia secondary to hypoparathyroidism. The diagnosis of DGS was delayed until six years later. The clue to the underlying condition was the finding of DGS in the patient’s d...

A 35-year-old woman was seen at the medical obstetric antenatal clinic with gestational diabetes (GDM) and new-onset hypertension during the second trimester of her first pregnancy. She was well, with no prior medical history. Blood pressure of 120/80 had been recorded at her first antenatal visit. Throughout the pregnancy, GDM was managed successfully with diet alone: HbA1c always <5.8%. Methyldopa was initiated for persistent hypertension at 18 weeks gestation, and labet...

We describe two cases of Conn’s syndrome both of whom had hyperprolactinaemia of which one was associated with pituitary adenoma, possibly as part of MEN 1.The first patient was a man aged 52 who presented with hypertension present for 10 years and a marginally low serum potassium. He was on doxazosin, lisinopril, candesartan and celiprolol. His Aldosterone/Renin ratio (8500:1) was very high suggestive of primary hyperaldosteronism. The patient was ...

Hyperparathyroidism occurs in most patients with MEN Type 1 but the association of MEN type-1 with parathyroid carcinoma has only been described previously in one patient. In this report, we describe two further cases of parathyroid carcinoma presenting in association of MEN type 1 syndrome.The first patient was a 69-year-old woman who presented with severe hyperparathyroidism and tracheal compression by a mediastinal mass which was shown histologically ...

We present a case of a 76-year-old Caucasian woman with combined primary hypoparathyroidism and vitamin D deficiency resulting in life-threatening hypocalcaemia.She has a history of COPD and initially presented in 2002 with an exacerbation of her airways disease. During treatment for her condition an incidental note was made of hypocalcaemia (calcium 1.62 mmol/l). PTH was minimally elevated at the time but 25-hydroxycholecalciferol was low (4.2 ng/ml). S...

Metastases in the thyroid gland are very rare and their true incidence has not been clearly established. There are few reports of metastases to this gland and most of them are not detected in clinical practice.Although detection of metastases to the thyroid gland usually indicates poor prognosis aggressive surgical and medical treatment in isolated thyroid metastases may be effective as described for renal carcinoma.Malignant melan...

A 29-year-old woman with polycystic ovary syndrome was diagnosed with acromegaly having presented with a two year history of secondary amenorrhea, a change in physical appearance and sweating. The diagnosis was confirmed with an oral glucose tolerance test that also demonstrated she had impaired glucose tolerance. Radiological imaging demonstrated a 2.2 cm pituitary tumor that was compressing the optic chiasm and a bi-temporal visual field defect was confirmed on Goldman field...

Colour-Doppler Ultrasonography (CDU) is applied to the study of many thyroid diseases. In the last one semiquantitative (colour-signal) and quantitative (peak flow velocity at inferior thyroid artery) evaluations are considered. Graves’ disease (GD), amiodarone-induced thyrotoxicosis were better characterized, even Hashimoto thyroiditis and De Quervain thyroiditis were studied. We described a case of Silent Thyroiditis (ST), showing the possibility to distinguish it from ...

We report two cases of seizures resulting from severe electrolyte imbalance.Case 1: A 48-year old lady with CREST syndrome and oesophageal dysmotility. She was admitted with diarrhoea and vomiting. Routine investigations including FBC, U&E, LFT, and CRP were normal. She later complained of pins and needles in her hands and around her mouth. Twenty-four hours later, she developed blurred vision, neck pain and generalised ache, was found drowsy, with p...

Background: Generalised Resistance to Thyroid Hormone (GRTH) is an autosomal dominant condition with impaired tissue responsiveness to thyroid hormones. The majority of patients are asymptomatic and compensate adequately by elevated thyroid hormone production.Index case: A 47-year-old woman was referred to the thyroid clinic in 2000 when routine thyroid function tests (TFT) showed elevated TSH at 4.9 mU/l and fT4 36 pmol/l. A TSH-oma was excluded by norm...

Mineral-rich baths and other spa treatments are popular and are promoted as providing a sense of well-being and detoxification. However, exposure to minerals that are easily absorbed through the skin may have unwanted adverse effects in certain groups of patients. In 2001, a 50-year-old woman was diagnosed with thyrotoxic Graves’ disease. Her thyroid peroxidase antibodies were >1000 IU/ml. She was treated with block and replace therapy for 1 year. She remained euthyro...

In cases of ret-oncogene positive Medullary Thyroid Carcinoma (MTC), national guidelines advocate screening of 1st degree relatives with the Pentagastrin Stimulation Test (PST) to identify those with C-cell hyperplasia, and therefore at risk of MTC. Prophylactic thyroidectomy is recommended in those with positive tests. We highlight the difficulties of quantifying risk in the relatives of a ret-negative patient.A 30 year-old man presented with a tender n...

Case report: A 68 year old lady was admitted for an elective partial hepatectomy for a solitary metastasis in the liver. Two years ago she had an uneventful colectomy for a colorectal cancer. During induction for her operation she was noted to be hypertensive {blood pressure (BP) 200/120 mm of mercury (Hg)}, though had not been observed to be so previously, and hence her partial hepatectomy had to be abandoned. She was commenced on atenolol and operation rescheduled. The secon...

ACTH deficiency is a rare cause of secondary adrenocortical insufficiency and frequently associated autoimmune-mediated hypothyroidism, but there has been no report associated autoimmune-mediated hepatitis. We present a 36-year-old female with generalized weakness, malaise, hypersomnolence. Investigations showed low albumin, prolonged PT, elevated bilirubin level and abdominal ultrasonography and CT revealed liver cirrhosis with ascites. Though serologic test for hapatopathy w...

A number of psychiatric conditions are associated with Cushing’s disease. Acute psychosis is rare. We describe a patient with sudden onset of florid psychosis who required medical and surgical treatment.Case: A 38 year old woman previously well and employed in the financial sector was admitted to the acute psychiatric unit with delusional, disorganised and paranoid ideation. Despite management with olanzapine, haloperidol and benzodiazepines her men...

Human obesity is characterized by abnormalities in sympathetic cardiovascular control. We present two cases to demonstrate the relationship between weight, BP and catecholamines (UC).Case 1: A 39 year-old man reported symptoms of flushing and palpitations. His BMI was 50 kg/m2, consistent BP of 240/140 mmHg, with normal renal, thyroid function and normal fasting glucose. Urinary noradrenaline (UNA820 nmol/24 hrs) and dopamine (UDA-4500 nmol/24...

A 14 year old girl, with a family history of MEN1, presented with secondary amenorrhoea and weight gain. Biochemical investigation revealed raised 24-hour urinary free cortisol excretions (1455, 1190, 614 nmol/24 hours; normal <290) and failure of cortisol suppression following 48 hours of low dose (0.5 mg qds) dexamethasone (199 nmol/l to 202 nmol/l). High dose dexamethasone administration (2 mg qds) for 48 hours resulted in further suppression of serum cortisol to 49 nmo...

A 40 year old gentleman presented with dramatic weight loss and a rash in the perineal area spreading to involve his face, trunk, legs and feet. Initial investigations demonstrated a normocytic anaemia with no evidence of thyroid disease or diabetes. Occasional diarrhoea prompted subsequent investigations including upper GI endoscopy, duodenal biopsy, pancreatic exocrine testing and barium follow-through studies which were normal. His 24 hour urinary 5-hydroxyindoleacetic acid...

Adrenocortical carcinoma is extremely rare and accounts for 0.05–2% of all malignant neoplasms with an estimated incidence of 0.5–2% per million people per year. Feminising adrenal carcinoma is even rarer. We submit such a rare case presenting with gynaecomastia.A 50 year old man presented with a year history of increasing bilateral gynaecomastia. He had no problems with his sexual function. Initial investigations by the GP showed low testoster...

Case report: A 40-year old male with a background history of autism, severe learning difficulties and childhood Hirschsprung’s disease had been on long-term lithium carbonate therapy, without any history of polyuria or polydipsia. During admission he underwent a subtotal colectomy for malignant colonic polyps. Pre-operative serum urea and electrolytes, glucose and lithium levels were normal. Pre-operative fluid balance was normal. The post-operative period was turbulent; ...

We report 2 patients with Graves’ thyrotoxicosis complicated by jaundice.Case 1 - A 36 year old referred to the gastroenterologists with a 3-month history of general malaise, myalgia, jaundice, 4 stone weight loss and diarrhoea. A hepatitis and autoimmune liver screen were negative, bilirubin elevated at 200 umol/l, coagulation screen and ultrasound scan were normal and a liver biopsy showed cholestasis. Thyroid function tests (TFT’s) demonstra...

A 27-year-old woman presented with severely symptomatic Graves and ophthalmopathy (FT4 49.1; TSI 53). Despite 60 mg carbimazole and 240 mg propranolol she required admission to control her symptoms and thyroid function, changing to propylthiouracil 800 mg daily with propranolol (FT4 19.9). Whilst considering thyroidectomy a 6-week pregnancy was confirmed. She relapsed (? compliance) and was admitted at 14 weeks with hyperemesis gravidarum (FT4 >77.2), which responded to an...

FTC (OMIM #211900) is a rare autosomal recessive disorder characterized by the presence of ectopic calcifications in the skin and subcutaneous tissues. These calcified masses look like irregular tumors which usually develop in a periarticular position, causing pain and often necessitating surgical excision. The majority of affected individuals have hyperphosphatemia due to increased renotubular reabsorption of phosphate and elevated levels of serum 1,25-dihydroxyvitamin D (cal...

A 44-year-old woman presented to an emergency department with ear pain and worsening of longstanding headache. There was no history of menstrual disturbance, galactorrhoea, tiredness or weight gain and physical examination demonstrated only a left homonymous hemianopia. CT head scan revealed a brightly enhancing, enormous, lobulated mass arising from the pituitary fossa and causing obstructive hydrocephalus through compression of the fourth ventricle. Following collection of b...

Autoimmune hypophysitis is a rare cause of pituitary failure. It’s aetiology and natural history are not well understood. We present a case of pituitary failure that showed spontaneous resolution of radiological and clinical features, consistent with autoimmune hypophysitis.Case report: An 18 year old male presented with a 7 month history of polyuria and headaches. No significant past medical history or family history were noted. A water deprivation...

In recent years there has been increasing evidence for neuroendocrine dysfunction as a sequel of aneurysmal subarachnoid hemorrhage (SAH). One investigation has assessed pituitary function in SAH-survivors in a longitudinal design 3 and 12 months after the hemorrhage, but nothing is known about the dynamics of the hypothalamo-pituitary axis in the years following the bleeding. We present the data of 5 patients who had sustained aneurysmal SAH and had undergone their first endo...

We report the case of a 53 year old woman with a history of refractory focal epilepsy with complex partial and secondary generalised seizures. She has been on multiple anti-epileptic drugs since childhood. At 42 years of age she was referred to the Endocrinology Department complaining of capital hair loss and hirsutism. At this time her epilepsy was controlled on phenytoin and carbamazepine.A diagnosis of congenital adrenal hyperplasia (CAH) was made, wi...

Introduction: Nesidioblastosis is a rare but well recognized disorder of persistent hyperinsulinemic hypoglycemia in infancy, but adult-onset nesidioblastosis associated with hyperinsulinemic hypoglycemia, termed noninsulinoma pancreatogenous hypoglycemia syndrome (NIPHS) has also been reported. These patients experience predominantly postprandial hypoglycaemia instead of fasting hypoglycaemia that characterizes insulinoma. Histological findings are islet hypertrophy islet-cel...

5 α-reductase deficiency is a rare autosomal recessive condition of male psuedohermaphroditism, resulting from mutations of the type 2 isoenzyme 5 α-reductase, crucial in conversion of testosterone to dihydrotestosteroneCase report: Baby P is a full term baby, a product of a consanguineous marriage. The baby had ambigous genitalia with a clitoris, minimal glans tissue at the apex of the labial folds, gonads in the labioscrotal folds and a ureth...

49,XXXXY syndrome is a rare defect of sex chromosomes frequently labelled as Klinefelter variant. It is associated with more severe dysmorphic features, hypogenitalism and mental retardation.The goal: To describe clinical, biochemical, hormonal, radiological and developmental status of the patient with 49,XXXXY karyotype.Report of the patient: 12-month-old boy referred because of underdeveloped genitalia. The patient was born by ca...

Partial lipodystrophy syndromes are characterised by a selective paucity of subcutaneous adipose tissue on the trunk and limbs but excessive fat on the face, neck, supraclavicular areas and pelvis. Metabolic complications include insulin resistance and polycystic ovary syndrome (PCOS). There have been no previous reports of genital disfiguremment in these conditions.We present the case of a 27 years old female, who initially presented to the gynaecology ...

Pituitary apoplexy is an acute medical emergency but there are no evidence based management guidelines, especially for neurosurgical intervention.A 35-year old male presented with sudden onset severe headache. On examination blood pressure was 180/120 without any lateralising neurological signs. He appeared acromegalic with a short history of enlarging hands & feet. Emergency CT scan and a MR scan later confirmed haemorrhagic pituitary adenoma, 3 cm ...

GIP-dependent Cushing’s syndrome (CS) is caused by ectopic expression in adrenal cortex of gastric inhibitory peptide (GIP) receptors coupled to steroidogenesis, which leads to postprandial increases of cortisol (food-dependent CS). In a few cases a transient effect of short-acting octreotide on cortisol levels has been shown, but bilateral adrenalectomy is still thought to be a definitive treatment.We report on a case of a 45-year old woman with bi...

Objectives: Prolactinomas can extend out of the sella turcica and invade surrounding structures and the brain. The prevalence and natural history of epilepsy at presentation of macroprolactinoma is not clear.Methods: The case records of 62 patients (34 male) with macroprolactinoma attending a neuroendocrine clinic were studied.Results: Four patients (6.5%, 3 males) had experienced epileptic seizures before the diagnosis of macropro...

A 24-year-old woman complained about secondary amenorrhoea after stopping oral contraceptive whereas she wanted to be pregnant. Physical examination showed an android obesity with a non-progressive but major hirsutism. Endocrinological investigations eliminated pregnancy but revealed on different samples a high plasma testosterone level (from 2.15 to 2.77 ng/ml), in the tumoral range whereas DHEA-sulfate, delta4-androstendione, sex binding protein and prolactine were normal. S...

Mutations in the DAX-1 gene are well described in patients with adrenal hypoplasia congenita (AHC) and hypogonadotropic hypogonadism but can be a useful tool in the elucidation of unusual or difficult cases of adrenal insufficiency. As the clinical presentation of congenital adrenal hyperplasia and AHC can be clinically identical, diagnosis in the neonate often depends on the levels of 17-hydroxyprogesterone (17-OHP). If these are unavailable or non-diagnostic, gene analysis c...

Congenital hypoplastic anemia (Diamond-Blakfan Syndrom) is genetically determined disorder which is manifested in early childhood with selective deficiency of erythrocyte line in bone marrow. Severe anemia usually appears between 2nd and 6th month of life. Survival depends on blood transfusions, which in consequence lead to hemosiderosis. Hypopituitarism, hypogonadism and diabetes mellitus and other endocrinopathies are the complications of hemochromatosis.<p class="abstex...

Clinical case: An incidental right sided pelvic mass measuring 6 cm×7 cm was found in a 35 year-old nulliparous lady during investigations for secondary infertility. This mass was hard, irregular and white in appearance and biopsy confirmed a carcinoid tumour with a low Ki 67 index of 2.7%. She had no symptoms of flushing, diarrhoea or local discomfort. Endocrine screen showed a non-secretory tumour with normal fasting gut hormones and negative urinary 5H1AAs. Other tumou...

A32 year old lady was admitted with symptoms of palpitations, tremors, insomnia, heat intolerance, weight loss and excessive perspiration for 4 weeks. Worsening of these symptoms with vomiting prompted the admission. She had similar episode 7 yrs ago following the birth of her child when a provisional diagnosis of postpartum thyrotoxicosis was made but lost follow up with in 2 weeks. She works as a carer looking after mentally handicapped children. Her mother suffers from hypo...

Objective: Maternal and female fetal virilization is subject to exaggerating androgen secretion of pregnancy luteomas which is associated with the protective capacity of placenta safeguard against hormone conversion and presents with variable extent of female pesudohermapharotidism as exposure in critical gestational stage.Patient(s): A nulligravida woman suffering from bilateral hydronephrosis and recurrent acute pyelonephritis caused by bilateral solid...

We present 2 cases of extraadrenal phaeochromocytoma with several unusual features: (a) A 54 year-old female presented with dizziness, falls, and palpitations. She was tachycardic with blood pressure of 218/75 supine and 139/107 standing. An abdominal mass was palpable. Urinary catecholamines were markedly raised and a CT scan showed para-aortic mass with avid MIBG uptake confirming the diagnosis of an extraadrenal phaeochromocytoma. Persistent hypokalaemia and hyperglycaemia ...

Hungry bone syndrome (HBS) is associated with recent parathyroid surgery. The Wolfram syndrome is characterised by diabetes insipidus, diabetes mellitus, optic atrophy and deafness. Other anomalies, such as renal outflow tracts and multiple neurological disorders may develop later. We present a Wolfram patient with tertiary hyperparathyroidism due to chronic renal failure associated with bilateral reterohidronephrosis who developed prolonged HBS after parathyroid adenomectomy....

We present two cases of postmenopausal, gonadotrophin-dependent androgen excess.Case 1: A 59-year-old postmenopausal female presented with a 4-year history of hirsuitism and male pattern balding. Past medical history included Type II diabetes, hypertension, and polycystic ovarian syndrome. Investigations revealed androgen excess (testosterone 8.9 nmol/l [ref range<2.5], free androgen index 31.8 [ref 0-7], androstenedione 13.7 nmol/l [ref<6.8], DH...

The aim of the study is to estimate the efficacy of intravenous corticosteroid therapy in patients with active, sever Graves’ ophthalmopathy.Material and methods: 16 patients with bilateral active, sever Graves’ ophthalmopathy were included to the study. Euthyroididsm has been provided, mean dose of methimasol therapy was 9.4±6.6 mg a day, median of TSH- 0.3 mlU/l, median of fT4 –15.3 pmol/l. The median of duration of GO was 6.5 month...

Introduction and objectives: Anxiety has a relevant impact on everyday life, including sexual life, and therefore is considered the final common pathway by which social, psychological and biological stressors negatively affect sexual functioning. The aim of this study is to define the psycho-biological correlates of free-floating anxiety in a large sample of patients complaining erectile dysfunction (ED) based sexual problems.Methods: We studied a consec...

Histiocytosis X is a rare disorder in which proliferating Langerhans cells can infiltrate virtually any site in the body. Bone is the most commonly affected site but endocrine involvement is frequently seen. Diabetes insipidus is the most common abnormality when there is involvement of the hypothalamic-pituitary axis.We report the case of a 42 year old lady who presented with diabetes insipidus in 1997. MR scan of the pituitary showed absence of the post...

Described here is a series of 3 patients with psychiatric disorders and 4 patients with movement disorders associated with primary hypoparathyroidism. Patients of ages 18 through 55 years and were seen 1998–2004 in a general hospital. Institutional Ethical Committee approval was obtained for the study.On presentation, all patients had fasting plasma tested for calcium, magnesium, phosphorus, albumin and intact PTH. All had CT scans of the head. All ...

Insulinoma is a rare neuroendocrine tumor (4 cases/1000000/year), less than 10% are malignant. We report a case of rapidly fatal malignant insulinoma, death occurring less than 3 months after the apparition of hypoglycaemic symptoms.A 79 years old female type 2 diabetic patient, treated with glicazide120 mg b.i.d and metformine et 850 t.i.d, was hospitalized for recurrent hypoglycaemia Insulinoma was diagnosed as severe hypoglycaemic episodes occurred mo...

Pheochromocytomas and abdominal paragangliomas are catecholamine-producing tumors of the sympathetic nervous system, while head and neck paragangliomas are non-secreting tumors of parasympathetic origin.Here we present a case of 20-year-old patient with the metastases of malignant paraganglioma. In 2004 the disease has been detected at accidental abdominal sonography. Patient has not had any symptoms, such as headache, hyperhidrosis, palpitation, weight ...

Objective: Diamorphine and methadone administration are associated with dysfunction of the hypothalamo pituitary gonadal axis in premenopausal women. However, the effects of less potent opioids on this axis remain unclear.Methods: We report a case of a 42 year old woman referred with secondary amenorrhoea and low oestradiol levels (oestradiol <50 iu/l). She started menarche aged 14, followed by regular menstrual cycles, two successful pregnancies, tw...

Malignant neoplasm of the Adrenal gland is rare and carries a poor prognosis. Presentation is with either symptoms of hormone excess; Cushings Syndrome (Steroids), Conns Syndrome (Aldosterone), Virilisation (Androgens), Feminisation (Oestrogens), Phaeochromocytoma (Catecholamines) or abdominal mass, and patients often present with hypertension. Laboratory investigations confirm clinical suspicion of isolated hormone excess. Surgical resection offers the best chance for long-te...

Objectives: To audit the endocrine referrals from a High Secure Hospital (HSH) to a department of endocrinology.Methods: During the study, the HSH had approximately 400 beds, 75% male, 75% mental illness (mostly schizophrenia), 25% psychopathic personality disorders. The average length of stay in the HSH was 8 years, the majority of patients receive antipsychotic drugs (APD) and obesity and cigarette smoking is common.Results: Over...

Although double adenomas may be present in 1% of autopsy pituitaries, in patients with pituitary disease they are extremely rare. In previously reported surgical series an incidence of 0.37–1.64% has been observed. We report a 55 year old lady with features suggestive of acromegaly and a double pituitary adenoma on MRI. The diagnosis of acromegaly was confirmed by an elevated serum IGF-I and a nadir growth hormone of 10.3 mU/l during a 75 g oral glucose tolerance test. Ot...

17β-hydroxysteroid dehydrogenase-3 (17βHSD3) deficiency is an autosomal recessive form of male pseudohermaphroditism due to impaired testicular conversion of androstenedione to testosterone. 46,XY homozygotes or compound heterozygotes for mutations of the HSD17B3 gene have testes and normally developed Wolffian duct derivatives, but they present with undervirilization of the external genitalia, which are often female. About twenty different mutations of the 17βH...

We describe a 39-yr-old man with recurrent sporadic primary hyperparathyroidism (PHPT). In 1987, at the age of 21 yr, a severe form of PHPT was diagnosed [serum calcium 17.3 mg/dl; C-PTH 3.17 ng/ml (<0.88 ng/ml), cortical thinning and erosion] and a right parathyroid adenoma was removed. Three years later recurrence of PHPT was diagnosed but no treatment was initially advised. In 1993 the patient underwent cervical exploration and a right parathyroid adenoma was excised. S...

We present 2 patients who developed severe thyrotoxic exacerbation following radioiodine. The first treated by conventional antithyroid therapy, the second was plasma exchanged.Patient A aged 39 male with FT3=28.2 pmol/l (2.5–5.3) FT4=49.0 pmol/l (9.1–23.8) TSH=<0.01 mU/l (0.32–5.0),a large diffuse goitre, thyroid eye disease and asthmatic on inhaled ventolin. He received 3.5 years of carbimazole 40 mg and thyroxine 100 mcg. Thyroxine ...

Late onset Cushing’s disease, occurring years following the diagnosis of a silent corticotroph adenoma (SCA) is rare, with very few previously reported cases. We present a series of 5 subjects with SCA, aggressive tumour recurrences and late onset Cushing’s disease.The mean age of subjects at initial presentation was 41 yrs (35–52), sex 3:2 (M:F). There were no clinical features of hypercortisolism at diagnosis. Two subjects had hypocortis...

A 36 year old man presented with a six month history of palpitations. An ECG in a different hospital had showed a sinus tachycardia. An echocardiogram had also been performed and reported as normal. There were no apparent clinical features to suggest Cushing’s Syndrome (BMI 26 kg/m2). Resting pulse was 86/min. BP was 140/90. Examination was otherwise unremarkable.Baseline biochemical and haematological investigations including TFT, FBC we...

A 76 year-old man presented with back pain anorexia and cachexia. CT scan confirmed a pancreatic mass with liver metastasis. Liver biopsy confirmed a neuroendocrine tumour. Because of left ventricular failure he was unsuitable for tumour reduction therapy. He was hypercalcaemic (2.54–3.1 mmol/l), PTH and PTHrP were elevated [2.5 pmol/l (1.9–6.9), 7.1 pmol/l (<1) respectively]. A diagnosis of PTHrP secreting neuroendocrine tumour with coexisting primary hyperparat...

We report a falsely elevated blood spot thyrotrophin (TSH) concentration caused by a TSH-IgG complex. A routine blood spot screen returned a whole blood TSH of 213 mU/l from a one week-old neonate using the Wallac DELFIA method. Measurement in serum confirmed elevated TSH (826 mU/l, Roche Elecsys assay) but free thyroxine (17.2 pmol/l) was normal. The baby’s mother was clinically euthyroid but also showed discordant high serum TSH (287 mU/l) with normal free thyroxine (13...

Objective: To describe a novel mutation of the calcium sensing receptor gene (CaSR) in a family diagnosed with familial hypocalciuric hypercalcemia (FHH).Case history: A 62 year old man being investigated for short term memory loss was referred to us by GP for hypercalcemia found on routine blood tests. He was asymptomatic otherwise. Repeat blood tests revealed serum calcium high at 2.88 mmol/l, inorganic phosphate of 0.75 mmol/l, and normal serum PTH of...

Authors present a case report of the 25-year patient with suspicion of adrenal insufficiency (AI). Based on the clinical picture and plasma cortisol levels in low-dose 1 μg ACTH test (32.00–65.40 nmol/l, normal response >500 nmol/l) AI was confirmed. On ECG record was present deep s-wave in leads I, II, III, aVF, V5-V6 and rsŕ-shaped QRS complex in leads aVR and V1 – finding consistent with incomplete right bundle-branch block. Moreover horizontal eleva...

Clinical case: A 51 year-old caucasian woman was admitted in the emergency room of our hospital with psicomotor agitation and confusion after four days of a profuse watery diarrhea, with 5 stools per day, abdominal cramps and vomiting. She started 500 mg of aspirin on her own initiative. Her medical profile included a type 2 diabetes treated with metformin 850 mg/12 hours and glyburide 7.5 mg/day, and hypertension treated with enalapril 20 mg/day. No renal imparement was docum...

Children with androgen insensibility and female sexual external organs usually are classified as girls. In the puberty observed is the development of female secondary sexual features without menstruation. The treatment of patients with androgen insensibility, because of the risk of neoplastic transfomation must be preceded by castration. Case report: a 14 year old girl was admitted in 2003 to the Clinic with the following anamnesis: birth from the secondary gravidity, normal d...

Prader-Willi is a complex genetic syndrome with characteristic phenotype, obesity, hyperphagia, and endocrine hypothalamic dysfunctions. We present particular features of a case with confirmed Prader Willi syndrome (PWS).Case report: EP, only child of a young non-consanguine couple, was born in 1994 at 34 weeks of amenorrhoea, with a low Apgar score (7) and a weight of 2200 g. She presented important hypotonia in the first 6 weeks of life, needing gavage...

Introduction: We present 3 cases of the same severe electrolyte imbalance presenting with acute neurological symptoms.Case descriptions: Case A, a 48 year old lady with severe CREST syndrome presented with prolonged vomiting and diarrhoea. Initial investigations showed: Sodium 141 mmol/l, Potassium 3.2 mmol/l, Creatinine 53 mmol/l, Glucose 4.3 mmol/l, Haemoglobin 13.9 g/dl, Albumin 38 g/l. 2 days after admission she developed seizures. Case B, a 75 year ...

The clinical spectrum of chronic hypocalcemia mimics various neurological and psychiatric pathologies. Although infrequently encountered, the diagnosis of non-iatrogenic primary hypoparathyroidism has to be considered in order to avoid severe complications or at least to improve neurological manifestations.We present two unrelated cases of primary hypoparathyroidism clinically manifested in adulthood (case 1) and childhood (case 2). Very low-levels of PT...

Ectopic ACTH secretion due to malignant tumours is a rare cause of hypercortisolism. Induced metabolic disturbances are often serious and the management of such patients may be difficult. We report the case of a 50-yr-old man who had a sporadic medullary thyroid carcinoma (MTC) removed 2 years ago (Dec/2003). Calcitonin and CEA levels remained high postoperatively and a CT scan revealed liver metastases. In August 2005 he was referred to Endocrinology with symptoms of muscular...

Polymyalgia rheumatica is a chronic autoimmune inflammatory rheumatic disorder of unknown aetiology. Hashimoto thyroiditis is an autoimmune thyroid disorder characterised by the presence of antithyroid antibodies. Hashimoto thyroiditis has been described in patients with systemic autoimmune disorders such as systemic lupus erythematosus. The aim of the study was to describe the case of a patient who had polymyalgia rheumatica and developed Hashimoto thyroiditis.<p class="a...

Background: Before synthetic cortisone was introduced, patients with Addison’s disease prolonged their lives by maintaining a high salt intake and taking plant based containing preparations affecting steroid metabolism. We report the case of someone who discovered this regime for herself.Case report: A 42 year old lady presented with a four week history of decreased energy, malaise, and postural dizziness. She was hyponatraemic (plasma sodium 126 mm...

Introduction: Thyroid eye disease affects an estimated 400,000 people in the UK and for a sizeable minority this is an extremely unpleasant condition. Radioactive iodine treatment with I131 for thyrotoxicosis can cause sight-threatening flare-up of dysthyroid eye disease. Patients with dysthyroid eye signs should undergo specialist ophthalmology assessment prior to administration of I131.Case history: A 56 year old gentleman presented with symptoms of th...

The overall incidence of carcinoid tumors has been estimated to be 1 to 2 cases /100000 people in USA. Carcinoid tumors habitually accounts for 1% of all cases of Cushing’s syndrome. The authors report an unusual case of ectopic secretion of corticotropin from pulmonary carcinoid tumor.A. F. is a 29 years old patient who has been referred for hypercorticism with patent features including trophical signs and severe depression.L...