Recombinant Human Parathyroid Hormone Therapy (1-34) In an Adult Patient with a Gain-of-Function Mutation in the Calcium-Sensing Receptor-a Case Report

ObjectiveTo describe a case of hypocalcemia in a patient with a gain-of-function mutation in the calcium-sensing receptor that was undetected until adulthood and successfully treated with recombinant parathyroid hormone.MethodsThe clinical findings, laboratory data, and a review of the pertinent literature are presented.ResultsA 55-year-old woman was hospitalized and seen by the endocrinology consult service for hypocalcemia that was refractory to repeated doses of intravenous calcium gluconate. She expressed concern about chronic leg muscle cramps and paresthesias of the lips and fingertips. In addition, she had no history of neck surgery, neck irradiation, or any autoimmune disease. She was a well-appearing female with no dysmorphic features or skin changes. Laboratory tests revealed hypocalcemia, hyperphosphatemia, hypomagnesemia, and hypovitamino-sis D. Her parathyroid hormone concentration (PTH) was low at 14.2 pg/mL. Her PTH and calcium concentrations remained low despite repletion of magnesium and treatment with calcitriol and oral calcium replacement. A 24-hour collection for urinary calcium showed inappropriate hypercalciuria. Medical records showed her hypocalcemia to be chronic. Additionally, several family members had also complained of muscle cramps. A congenital cause of her hypoparathyroidism was considered, and genetic testing confirmed heterozygosity for a gain-of-function mutation in the calcium-sensing receptor gene associated with autosomal dominant familial isolated hypoparathyroidism (ADH). Treatment with subcutaneous recombinant human parathyroid hormone teriparatide (rhPTH [1-34]) 20 mcg twice daily for three days normalized her calcium and phosphorus concentrations.ConclusionrhPTH (1-34) is an effective treatment for patients with hypoparathyroidism due to gain-of-function mutations in the calcium-sensing receptor. ADH can be insidious in presentation and the diagnosis can be missed unless there is a high index of suspicion. (Endocr Pract. 2013;19:e24-e28)     

Disappearing diabetes.

For five years a nurse was treated for diabetes mellitus. She was found to have tampered with her blood and urine tests and later was believed to have fabricated her condition from the outset.     

Calcinosis cutis in chronic renal failure diagnosed by fine needle aspiration. A case report

BACKGROUND: Deposition of calcium salts in the skin and subcutis, referred to as calcinosis cutis, is a common complication in patients with end-stage renal disease. The lesion can present as a mass and is amenable to fine needle aspiration (FNA). CASE: A 48-year-old man undergoing hemodialysis following a failed renal transplant presented with a 1.5-cm neck nodule. A diagnosis of calcinosis cutis was made following FNA, which obtained semiliquid, chalky material. CONCLUSION: In cytologic preparations, deposits of calcium salts can be both amorphous and refractile on Diff-Quik and Papanicolaou stain. However, the material may not be birefringent with these stains. Alizarin red S stain for calcium will permit demonstration of the characteristic birefringence.     

Growth hormone hypersecretion in a girl with neurofibromatosis type 1 and an optic nerve glioma: resolution following chemotherapy

Growth hormone hypersecretion is extremely rare in childhood. We report a girl with neurofibromatosis type 1, an extensive optic nerve glioma and growth hormone hypersecretion. She was treated with chemotherapy to prevent further extension of her sight-threatening tumour. Three years after chemotherapy her growth hormone hypersecretion has resolved although she has gone on to develop precocious puberty.     

Hyperphosphatemic tumoral calcinosis

Tumoral calcinosis is a rare syndrome characterized by progressively growing and painless masses of calcium phosphate deposits within periarticular areas. Biochemical findings are normal except for an association with hyperphosphatemia. This report describes hyperphosphatemic tumoral calcinosis in a 22-year-old man who had been operated on five times in 5 years because of painless extremity swellings.     

Pneumonitis in elderly patient with ANCA-positive glomerulonephritis during treatment with cyclophosphamide

A 78 year-old woman with extracapillary glomerulonephritis was treated with cyclophosphamide and corticosteroids. Three months after starting the therapy, the patient had an episode with breathlessness, cough and sputum without fever. X-ray showed bilateral interstitial infiltrates. She was initially treated with empirical antibiotics without achieving clinical or radiological changes. After ruling out an infectious cause, activity of the underlying disease, and other causes of fibrosis, treatment with cyclophosphamide was stopped. Following this, there was an immediate improvement of her clinical and radiological states. The administration of cyclophosphamide was considered directly related to the cause of her symptoms.     

Neumonitis en paciente anciana con glomerulonefritis ANCA positivo durante el tratamiento con ciclofosfamida

A 78 year-old woman with extracapillary glomerulonephritis was treated with cyclophosphamide and corticosteroids. Three months after starting the therapy, the patient had an episode with breathlessness, cough and sputum without fever. X-ray showed bilateral interstitial infiltrates.She was initially treated with empirical antibiotics without achieving clinical or radiological changes. After ruling out an infectious cause, activity of the underlying disease, and other causes of fibrosis, treatment with cyclophosphamide was stopped. Following this, there was an immediate improvement of her clinical and radiological states. The administration of cyclophosphamide was considered directly related to the cause of her symptoms.     

Gamma Knife(R) radiosurgery for recurrent intracranial olfactory neuroblastoma (esthesioneuroblastoma): a case report

ABSTRACT: BACKGROUND: We report the use of salvage radiosurgery to manage an aggressive olfactory neuroblastoma(esthesioneuroblastoma) with multiple recurrences and intracranial extension. CASE PRESENTATION: A 43-year-old Caucasian woman presented 11 years ago with progressive nasal blockage andheadaches. A necrotic polyp originating in her left middle meatus and extending to theethmoid air cells and cribriform plate (Kadish stage C) was radically resected via acraniofacial approach. Four years later, a local recurrence extending into her left cavernoussinus was identified and deemed inoperable. She received vincristine, ifosfamide,doxorubicin and etoposide chemotherapy (with minimal benefit) and external beamradiotherapy (60Gy in 30 fractions) to her skull base. Two years later, tumour extension inher left neck was treated with radical radiotherapy. She developed visual disturbances in herleft eye, which progressed to blindness in the next two years. Having exhaustedchemoradiotherapy, the left cavernous sinus esthesioneuroblastoma was treated with GammaKnife? radiosurgery 2 years ago (20Gy at 50% isodose, tumour volume 7.5cm3). At oneyear, there was dramatic reduction in the tumour and no new symptoms; however, there werenew tumour foci (in her left frontal lobe and above her right orbital apex). These were againtreated with radiosurgery (20Gy at 50% isodose, total tumour volume 0.67cm3). Repeatimaging at six months showed no further disease progression. CONCLUSION: Whilst rare, olfactory neuroblastoma (esthesioneuroblastoma) can present managementchallenges and Gamma Knife(R) radiosurgery may prove a useful strategy in controllingintracranial spread.     

Prolonged Vitamin D Intoxication in a Patient with Hypoparathyroidism

Pitfalls in the management of hypoparathyroidism are illustrated by the case of a patient who developed hypervitaminosis D while receiving doses of calciferol and of calcium in amounts commonly recommended for treatment. Either the patient was very slow to obtain maximum vitamin D effect or else her sensitivity to vitamin D increased, because she did not become hypercalcemic until two years after treatment was started. The dose of vitamin D was halved to 50,000 units per day and the dose of calcium was lowered to 0.26 g. daily. She failed to remain under medical supervision for the next four years and presented with hypercalcemia and evidence of renal impairment. After vitamin D was discontinued she remained hypercalcemic for nine months.These findings are discussed in the light of current knowledge concerning the actions of parathyroid hormone and vitamin D. The influence of adrenocortical hormones on calcium metabolism is considered. The need to follow up hypoparathyroid patients closely, and to check the level of calcium in the serum, is emphasized.     

Idiopathic Sporadic Tumoral Calcinosis of the Hip: Successful Oral Bisphosphonate Therapy

ObjectiveTo report the case of a woman with idiopathic sporadic tumoral calcinosis treated successfully with orally administered bisphosphonates.MethodsWe report the clinical, laboratory, and imaging findings and describe the clinical course of tumoral calcinosis. The literature was reviewed for the pathophysiologic features and strategies for treatment of tumoral calcinosis. In addition, we specifically reviewed the use of bisphosphonates in tumoral calcinosis and the possible pharmacologic basis for the therapeutic benefit.ResultsA 45-year-old woman presented with a 6-week history of left-sided pain in the hip in conjunction with stiffness after a trivial fall 4 weeks before the onset of symptoms. The findings on conventional radiology of the hip joint were consistent with tumoral calcinosis of the left hip. The biochemical profile of the patient was unremarkable. Oral treatment with alendronate, 70 mg once a week, yielded alleviation of symptoms within 12 weeks. Radiology of the left hip repeated after a period of 15 months revealed notable regression of the calcified lesion.ConclusionBisphosphonate therapy may be considered as an alternative to surgical treatment in patients with idiopathic sporadic tumoral calcinosis. (Endocr Pract. 2007;13:182-186)     

Electromyographic (EMG) Biofeedback in the Comprehensive Treatment of Central Pain and Ataxic Tremor Following Thalamic Stroke

Peripheral pain and ataxic tremor can appear suddenly following thalamic stroke and can significantly alter a patient's psychological, social, and physical functioning. The present paper reports the case of a 70-year-old Caucasian female who sustained an acute left posterior cerebral artery infarction involving the thalamus and left mesiotemporal regions. She subsequently developed Central Poststroke Pain and ataxic movement of her right arm and hand in addition to a significant right-side claudication. She was treated over 16 weeks (6 weeks of EMG biofeedback and 10 weeks of psychotherapy) with a combination of EMG biofeedback, progressive muscle relaxation, behavioral pain coping skills training, Forced Use Therapy, and Cognitive Behavioral Therap 7 years after her initial cerebral accident. The case demonstrates the utility of biofeedback when combined as part of a comprehensive treatment program to address the multiple complications associated with thalamic stroke.     

Aspiration cytodiagnosis of the breast with abundant acellular calcific material indicative of soft tissue calcinosis (a study of 3 cases)

Calcific deposits in soft tissue are rare and may clinically resemble a tumour. It seems feasible, therefore, to investigate them by the non-invasive technique of fine needle aspiration cytology (FNAC). In this study three cases with extensive accumulation of acellular calcific material in the breast are described in which FNAC was indicative of soft tissue calcinosis. In all cases routine mammogram had shown a partially cystic opacity. All other investigations were normal and no significant family or medical history was present. Cytopreparations in all cases showed only abundant acellular calcium. The patients had no further treatment and on follow up were clinically well with no changes. The cases are interesting, since the cytohistological findings in the aspirate sample appeared to be strongly indicative of soft tissue calcinosis.     

Risks and Benefits of Estrogen Therapy for a Male-to-Female Transsexual with a Prothrombin Gene Mutation

ObjectiveWe present the case of a male-to-female transsexual person in her 20s requesting hormone therapy in the setting of a history of a deep venous thrombosis and pulmonary embolus and carrying the prothrombin G20210A gene mutation.MethodsWe interviewed the patient and reviewed her medical records. We carefully weighed the risks and benefits of hormone therapy and took into account two important ethical principles: beneficence (to act in the patient’s best interest) and nonmaleficence (to avoid harm).ResultsOur patient presented to an outside facility with weight loss, generalized weakness, right lower extremity swelling, and chest pain. She was diagnosed with a pulmonary embolus and extensive deep venous thrombus by computed tomography (CT) scan and Doppler ultrasound, respectively. She was found to carry the pro-thrombin G20210A gene mutation. She was treated with anticoagulation therapy for 12 months, which was restarted prior to beginning therapy with transdermal estrogen.ConclusionWhile the exact risk of recurrent deep venous thrombosis and pulmonary embolus in our patient is unknown, we recommended that hormone therapy should only be given in conjunction with anticoagulation. We speculate that this strategy would allow the patient to experience the benefits to her overall well-being with hormone therapy while reducing the risks of venous thrombosis to acceptable levels. Prospective long-term follow-up of this patient is needed to verify the benefits and risk of the intervention chosen. (Endocr. Pract. 2013;19:e150-e153)     

Effects of hGRF treatment of a patient with hGRF deficiency

A 12-year old girl was admitted to our hospital for evaluation of her short stature. Her height was below -3.5 SD of the mean height for her age. She was diagnosed as having craniopharyngioma and treated surgically. Thereafter she was treated with thyroxine and hydrocortisone. One and a half years later, she revisited our hospital for treatment of short stature. Her plasma GH did not respond to insulin-induced hypoglycemia but increased after hGRF-44 administration, indicating hGRF deficiency. hGRF was therefore administered at a dosage of 100 micrograms twice a day subcutaneously for three months. Her height increased 1.6 cm during treatment, which corresponded to a height increase of 6.4 cm/year. These findings indicate that hGRF treatment stimulates height increase in patients with GRF deficiency. For complete evaluation of hGRF therapy, further studies will be required.     

Taurine protection against experimental arterial calcinosis in mice

Combined administration of vitamin D3 and nicotine produced severe myocardial and aortic calcinosis in mice within 4 days. Treatment of these mice with taurine increased the survival rate of the mice and reduced the elevation of calcium content in both aorta and myocardium as did diltiazem treatment. The present study suggests that taurine which is capable of regulating calcium flux may also prevent the progression of arteriosclerosis.     

Calcinosis and metastatic calcification due to vitamin D intoxication. A case report and review.

Vitamin D, a fat-soluble vitamin, can be associated with significant morbidity when prescribed in large doses. We describe a hypoparathyroid patient with vitamin D intoxication who developed painful periarticular calcinosis, nephrocalcinosis with hypertension and chronic renal failure in addition to band keratopathy and hearing loss. He was treated with combination therapy including prednisone, phosphate-binding antacid, phenytoin and disodium etidronate. After 20 months of follow-up there was a significant reduction of periarticular calcinosis, but no improvement in renal function, band keratopathy or hearing loss and possible calcification of the ossicles. The clinicopathologic features of metastatic calcification and the various treatment modalities are reviewed.     

A case of biliary Fascioliasis by Fasciola gigantica in Turkey

A case of Fasciola gigantica-induced biliary obstruction and cholestasis is reported in Turkey. The patient was a 37- year-old woman, and suffered from icterus, ascites, and pain in her right upper abdominal region. A total of 7 living adult flukes were recovered during endoscopic retrograde cholangiopancreatography (ERCP). A single dose of triclabendazole was administered to treat possible remaining worms. She was living in a village of southeast of Anatolia region and had sheeps and cows. She had the history of eating lettuce, mallow, dill, and parsley without washing. This is the first case of fascioliasis which was treated via endoscopic biliary extraction during ERCP in Turkey.     

Case report of acute necrotizing pancreatitis associated with combination treatment of sitagliptin and exenatide

ObjectiveTo report the first postmarketing case of necrotizing pancreatitis in a patient on combination therapy of sitagliptin and exenatide.MethodsWe describe the patient’s clinical presentation, laboratory test results, imaging, and autopsy findings.ResultsA 76-year-old woman with a history of type 2 diabetes mellitus presented with severe abdominal pain, vomiting, and fever requiring hospital admission. She had been treated with exenatide for 3 years to manage her diabetes mellitus. A few weeks before presentation, sitagliptin was added, presumably to further optimize her glycemic control. Acute pancreatitis was diagnosed during hospital admission. At initial presentation, her serum amylase concentration was 1136 U/L (reference range, 10-130 U/L) and her lipase concentration was greater than 3500 U/L (reference range, 0-75 U/L). In addition, computed tomography of the abdomen and pelvis demonstrated extensive pancreatic parenchymal necrosis. She had undergone previous cholecystectomy, reported no alcohol consumption, and had a normal lipid profile. Although she had a long-standing history of diabetes mellitus, she had no history of pancreatitis or other risk factors that would have caused her to develop the underlying condition. After initial brief improvement, her symptoms worsened, and despite aggressive care, her clinical state deteriorated and she died. Autopsy findings demonstrated acute necrotizing pancreatitis with complete digestion of the pancreas.ConclusionsConsidering the temporal relationship of her symptoms to the addition of sitagliptin to her existing exenatide regimen, this case strongly suggests a possible causal link between exenatide or sitagliptin (or the combination of the 2 drugs) and the etiology of pancreatitis in this patient. (Endocr Pract. 2012;18:e10-e13)     

Effect of excess vitamin D3 on calcium metabolism in rainbow trout Salmo gairdneri Richardson

The effect of excess vitamin D₃ on calcium metabolism in rainbow trout was investigated. Trout were reared for 24 weeks on diets containing 4000, 104 000 or 1 004 000 iu of supplemental vitamin D₃ kg^-1 dry diet. No effect of excess vitamin D₃ was detected in the weight gain, feed efficiency or total mortalities of trout in the different groups. None of the fish showed any signs of hypercalcaemia and no significant difference was detected in the calcium, magnesium, phosphorus and sodium content of the trout vertebrae or total carcass. However, there was a significant increase in the calcium, magnesium and phosphorus content of the skin in trout reared on the highest supplemental level of vitamin D₃ (1 004 000 iu kg^-1 diet). No overt signs of renal calcinosis were detected in any of the trout. This study indicates that trout are resistant to excess vitamin D₃, and that excess vitamin D₃ does not appear to be related to the increased incidence of renal calcinosis in rainbow trout.     

The Ethnographer Who Never Was: Eulalia de Abaitua as a Lens on Fin-de-Siècle Basque Society

Nineteenth-century Basque culture became a kind of ethnographic museum for anthropology, yet the nativism of its discourse ignored the industrial dimension of Basque society. This duality was captured, however, by the amateur photographer Eulalia Abaitua. She has been ignored by the canon due to her “amateur” status, her gender, and perhaps even her own transnational identity. However, her work fits into a long photographic tradition of “vernacular” ethnographers and her contribution is to be found in her “performance” or production. She should, then, be reclaimed as a significant actor in the history of Basque ethnography.