Tumour-induced osteomalacia (TIO).

Not required for Clinical Vignettes.

Interdisciplinary Aspects of Primary Hyperparathyroidism: Symptomatology in a Series of 100 Cases.

BACKGROUND: Primary hyperparathyroidism (PHPT) is a common endocrine disorder. Beside renal and skeletal complications, it has a wide variety of nonspecific symptoms from other organs that mimic other diseases and delay the diagnosis. In recent decades the clinical profile of PHPT has evolved to less symptomatic forms. OBJECTIVES: The aim of the study was to revise the symptomatology profile of PHPT in a single region, and to facilitate early PHPT diagnosis by encouraging interdisciplinary communication among medical professionals. MATERIAL AND METHODS: Data from 100 patients (94 women and 6 men, aged 57.1 ± 13.7 years) diagnosed with PHPT in the authors' center during the past decade were retrospectively analyzed. Biochemical conditions and clinical manifestations (renal, skeletal, cardiovascular, gastrointestinal and asymptomatic) were evaluated. RESULTS: Renal symptoms were present in 55% of the patients. In the course of unrecognized disease, seven lithotripsy procedures, seven surgical lithotomy procedures and two nephrectomies were performed. Osteoporosis/ /osteopenia was present in 66% and 10% of the study group, respectively. In 16% there were fragility fractures; in 10% brown tumors were present, and 55% of the PHPT patients were hypertensive. Gastrointestinal symptoms were present in 52%; pancreatitis was documented in 3%. PHPT was diagnosed incidentally in asymptomatic patients in 15% of the group. Mean serum Ca was 2.87 mmol/L (SD: 0.36), mean urine Ca was 15.97 mEq/24 h (SD: 7.89), mean serum PTH was 324 pg/mL (SD 425.21). The duration from the appearance of any symptom to the diagnosis varied from < 1 year (19%), 1-10 years (46%) to > 10 years (35%). CONCLUSIONS: PHPT is still diagnosed too late, after a period of untreated symptomatic disease. Multidisciplinary cooperation among specialists on the diagnostic level can help avoid late complications of unrecognized disease.

Subclinical Cushing's syndrome in adrenal incidentalomas--possible metabolic consequences.

INTRODUCTION: The presence of subclinical Cushing's syndrome (SCS) and some features of the metabolic syndrome were evaluated in adrenal incidentaloma patients. MATERIAL AND METHODS: 165 patients were studied. Plasma cortisol, ACTH, DHEA-S, 17-OH-P, aldosterone, renin activity and 24-h urinary methoxycatecholamines were measured. Fasting concentrations of glucose, insulin, triglycerides, T-chol., HDL-chol. and LDL-chol. were determined and the FIRI and QUICKI indices were calculated. Blood pressure, WHR and BMI were determined in all patients. Forty healthy volunteers were the controls. RESULTS: 133 patients had unchanged endocrine function, 32 demonstrated hormonal disturbances without clinical symptoms (in 26 nonclinical hypercortisolism). The WHR and blood pressure in the SCS group were significantly higher than in the patients with nonfunctioning adenoma (NA). T-chol and LDL-chol were significantly higher, but HDL-chol was significantly lower, in the SCS than in the NA patients. Fasting insulin level was significantly higher in the SCS than in the NA patients and controls, while fasting glucose level was comparable. QUICKI was significantly lower in the SCS and NA patients than in the controls, while FIRI was significantly higher in the SCS group. CONCLUSIONS: In incidentaloma patients, hormonal function of the adrenal gland should be estimated because some of them present subclinical hyperfunction. These patients frequently display features of metabolic syndrome such as insulin resistance, hypertension, high triglycerides, T-chol and LDL-chol levels. Subtle autonomous cortisol secretion may be the cause of these features.

Primary hyperparathyroidism presenting as a giant cell tumor of the jaws.

OBJECTIVE: Giant cell tumors of the maxillofacial skeleton are uncommon, they are usually late manifestation of primary hyperparathyroidism. A series of five clinical cases in four women and one man presenting as the giant cell lesions in the maxilla and/or mandible are discussed. METHODS: Biopsy of the lesions, biochemical and hormonal analyses, densitometry and parathyroid scintigraphy were carried out. RESULTS: Biopsy of the lesions showed giant cell tumor of bone. The medical history and laboratory analyses showed primary hyperparathyroidism. Bone density loss was documented and scintigraphy revealed the presence of parathyroid adenomas in four cases. Surgical treatment of hyperparathyroidism, and in the second step - after 6-12 months - the subsequent excision of residual brown tumors in all cases was performed. CONCLUSIONS: One should have in mind that osteolytic bone lesions may be due to metabolic disease of the bone. Accurate diagnosis enabling the proper treatment should be carried out, avoiding unnecessary harm to the patients.

Parathyroid adenoma diagnosed on the basis of a giant cell tumor of parieto-occipital region and multifocal bone injuries.

Brown tumors are rare skeletal manifestations of hyperparathyroidism (HPT) that may mimic cancer metastases. Histopathologically, they are difficult to differentiate from other giant cell lesions. A case is presented of 41-year-old woman with giant cell tumor in parieto-occipital region with injury of external bone lamina, growing into the skull cavity. The mass was suspected of being neoplastic. Numerous osteolytic lesions in the skull skeleton and multifocal bone injuries were observed, also. Elevation in calcium (5.91 mEq/L) and parathormone (1188 ng/mL) concentrations and hypercalciuria (52 mEq/24 h) suggested the diagnosis of HPT initially manifesting as a brown tumor of the skull. Further exploration confirmed the existence of parathyroid adenoma as a cause of the disease. The key treatment for the condition was surgical excision of the adenoma followed by the normalization of parathyroid function and significant reduction in size of skull tumor and other lesions.

Low bone mineral density in adult patients with coeliac disease.

INTRODUCTION: Calcium and vitamin D malabsorption in coeliac disease (CD) predispose to skeletal demineralisation. The aim of this study was to evaluate the prevalence of bone mineral density (BMD) and calcium deficiencies in adult patients with CD and assess whether a gluten-free diet is sufficiently effective for BMD restoration. MATERIAL AND METHODS: BMD and biochemical parameters of bone and mineral metabolism were measured in 35 adult CD patients receiving (19) or not receiving (16) a gluten-free diet (GFD) and in 36 controls. Then the CD patients were treated with a GFD and calcium (1.0 g/day) plus alfacalcidol (0.25-1 µg/day) for one year. RESULTS: Reduced BMD was diagnosed in 57-77% of the patients. Mean calcaemia, calciuria, and 25(OH) vitamin D were lower, but serum PTH and bone-turnover markers (ALP, osteocalcin, ICTP) were significantly higher in the CD patients than in the controls. In the patients on the diet (GFD(+)), BMD was higher than in the GFD(-) patients, but lower than in the controls. The biochemical parameters were normal in the GFD(+) patients except for diminished calciuria. Mean BMD after one year of treatment significantly increased (p < 0.05), mostly in the lumbar spine (mean: 7.3%), but decreased in five patients who did not strictly adhere to the GFD. CONCLUSIONS: Deficiencies in calcium, vitamin D, and BMD are very common in adult CD patients. Gluten avoidance increased BMD, although the values remained markedly lower in several patients. Because of chronic calcium deficiency despite GFD, calcium and vitamin D supplementation in most adult CD patients is proposed.

[The difficulties in differential diagnosis of primary aldosteronism subtypes in women with strokes at a young age]. / Trudnosci w diagnostyce róznicowej podtypów pierwotnego aldosteronizmu u kobiety z udarami mózgowymi w mlodym wieku.

In patients with primary aldosteronism (PA), it is fundamental to distinguish between subtypes that benefit from different treatment. The authors describe difficulties in differential diagnosis in a case of 46 year old women with PA and two strokes in the past. Based on high plasma and urine aldosterone concentration, low plasma renin activity (PRA), very high aldosterone/PRA ratio and unilateral macroadenoma detected in computed tomography, aldosterone producing adenoma was diagnosed and the patient was performed unilateral adrenalectomy. Despite the surgical treatment the patient still presented with clinical and biochemical PA symptoms. Moreover, histological examination suggested adrenal hyperplasia, and laboratory tests were typical for glucocorticoid-remediable aldosteronism. Unfortunately, we didn't find a chimeric CYP 11beta1/CYP 11beta2 gene. Finally, bilateral adrenal hyperplasia was diagnosed and medical treatment with aldosterone antagonist was initiated.

[Pheochromocytoma in 8-year observation at a single endocrinological center in Wroclaw]. / Guz choromochlonny w 8-letniej obserwacji akademickiego osrodka endokynologicznego we Wroclawiu

INTRODUCTION: Pheochromocytoma is rare tumor with a highly variable clinical presentation. This report provides clinical picture, efficiency of diagnostics and treatment of pheochromocytoma in 8-years in the endocrinological center in Wroclaw. MATERIAL AND METHODS: The records of 37 patients with pheochromocytoma were identified, who were treated in 2000-2007 in the Department of Endocrinology, Diabetology and Isotope Treatment in Wroclaw. There were 23 women (age 23-75 year) and 14 men (age 17-74). We studied frequency of clinical signs, usefulness of diagnostic methods and efficacy of treatment. RESULTS: The duration of the clinical history ranged from 2 months to 16 years. The most frequent symptoms were: hypertension paroxysmal and constant, palpitations, headache, sweating and anxiety. The most sensitive diagnostic method was increased concentration of urinary metanephrine in 24-hour urine. Computed tomography was the most widely used method for tumor localization. Adrenal pheochromocytoma was detecting by CT in all patients, predominated in right adrenal, in 1 case in urinary bladder. Surgery caused remission of hypertension in 59%, improvement in 26.8%, and no changes in 13.9% of patients. Malignancy was reported in 2 cases, 1 woman died after surgery. MEN 2A occur in 21.6%. CONCLUSIONS: The diagnosis of pheochromocytma is usually made after long duration of the disease. The study confirms that clinical presentation of pheochromocytoma is variable and nonspecific, this finding makes the diagnosis very difficult. The most typical symptom is paroxysmal hypertension, which is present only in 40%, other symptoms are nonspecific. The measurement of 24-hour urinary metanephrines was the best indicator. CT was almost always successful in localizing the tumor. Patients with pheochromocytoma should be consider for other endocrine diseases especially medullary carcinoma, primary hyperparathyroidism and other component of MEN 2A.

Plasma cytokines in obese women with polycystic ovary syndrome, before and after metformin treatment.

OBJECTIVES: Most research confirms that metformin therapy has a positive influence on cardiovascular risk factors (CVRF) such as dyslipidemia, insulin resistance and hyperandrogenism in polycystic ovary syndrome (PCOS). The aims of the present study were to establish other CVRF, such as plasma adiponectin, tumor necrosis factor-alpha (TNFalpha), interleukin-6 (IL-6) and C-reactive protein (CRP) levels, in obese premenopausal women with PCOS and to investigate the effect of metformin treatment on these factors. MATERIALS AND METHODS: The study group consisted of 29 PCOS woman with body mass index (BMI) >25 kg/m(2). They were treated over 6 months with 500 mg metformin twice daily. Twenty-nine healthy individuals matched for age and BMI were controls. Adiponectin, TNFalpha, IL-6 and CRP levels were examined in all PCOS (before and after treatment) and control women. RESULTS: In the PCOS group significantly lower plasma adiponectin and TNFalpha levels were observed, whereas there were no differences in plasma IL-6 and CRP levels between PCOS and control groups. Plasma adiponectin increased significantly after metformin treatment, but levels of inflammatory factors did not change.

The correlations between endogenous dehydroepiandrosterone sulfate and some atherosclerosis risk factors in premenopausal women.

BACKGROUND: Dehydroepiandrosterone (DHEA) is postulated to have antiatherogenic properties, but the possible mechanism of this action is unclear. The aim of this study was to determine the influence of endogenous DHEA-S on the levels of some factors playing significant roles in atherogenesis. MATERIAL/METHODS: In a group of 40 premenopausal women, relationships between endogenous DHEA-S and serum lipids and the apolipoproteins A1 (apoA1) and B (apoB), serum lipid peroxide (LPO), and total antioxidant system (TAS) concentrations as markers of the serum antioxidant-prooxidant balance were measured as well as clinical and biochemical parameters playing roles in atheromatosis such as the type of obesity and the serum glucose, insulin, insulin-like growth factor (IGF-1) and homocysteine (HCY) concentrations. RESULTS: Statistical analysis revealed significant correlation (p<0.05) between serum DHEA-S level and the serum concentrations of: HDL(2)-C (r=0.53), HDL(2)-C/HDL(3)-C (r=0.58), TG (r=0.35), IGF-1 (r=0.39), and HCY (r=-0.44). There was no statistically significant correlation between DHEA-S level and other biochemical and clinical parameters (age, BMI, WHR) found in this study. CONCLUSIONS: Despite unfavorable correlation between DHEA-S and TG concentration, the results of this study indicate a potential antiatherogenic action of DHEA which may occur through various mechanisms: by increasing HDL(2)-C and the HDL(2)-C/HDL(3)-C ratio, which has an atheroprotective effect, by elevating the serum IGF-1 concentration, or by decreasing the HCY level. These preliminary results, however, require further investigation.

[Congenital adrenal hyperplasia caused by 11beta-hydroxylase deficiency. A case report]. / Wrodzony przerost nadnerczy wywolany niedoborem 11beta-hydroksylazy. Opis przypadku

The authors describe a case of an adult woman with congenital adrenal hyperplasia caused by 11beta-hydroxylase deficiency. The patient presented not only typical features of this disease such as virilization and hypokaliemic hypertension but also rare pathologies, such as ectopic adrenal tissues, salt loss during infancy, and functional adrenomedullary hyperactivity. In spite of the severe disease and delays in its diagnosis and adequate treatment, significant improvement in appearance and normalization of blood pressure as well as the birth of a healthy child were achieved. The paper also discusses current opinions concerning the pathogenesis and treatment in CAH with 11beta-hydroxylase deficiency as well as difficulties in diagnostic and therapeutic management.

A follow-up of 130 patients with acromegaly in a single centre.

OBJECTIVES: Acromegaly is a rare disease with increased mortality rate. The aim was to present our centre experience in the diagnosis and treatment of a series of patients suffering from acromegaly. METHODS: 130 patients (55 men, 75 women) aged 19-84 years presenting with clinical and hormonal features of acromegaly, attending Department of Endocrinology and Out-patient Clinic between 1990 and 2004 were studied. They were analyzed their GH and IGF-1 levels, CT and MRI scans, and they were administered medical therapy, neurosurgery and radiotherapy. RESULTS: We have observed 106 macro-, 16 microadenomas and 1 case of ectopic GHRH. 115 patients were operated, as cured were recognized 74 of them. Pituitary irradiation was applied to 11 patients, in 4 of them it did not cure the disease. Medical therapy was efficacious in 12% patients treated with bromocriptine, 73% with long-acting lanreotide and 58% with long-acting octreotide. In 7 patients other malignant neoplasm were detected. 11 patients died during the follow-up. CONCLUSIONS: There is possible underdiagnosis of acromegaly in our region, especially in males. We have observed better diagnostic opportunities in recent years when MRI was available. It was accompanied by better outcome of surgical and pharmacological treatment and better control of the complications of the disease.

Risk factors of cardiovascular disease in GH-deficient adults with hypopituitarism: a preliminary report.

BACKGROUND: We estimated the influence of GH deficiency (GHD) in adults on chosen risk factors of cardiovascular disease and bone density. MATERIAL/METHODS: Fifty-four adults (mean age: 50.4 years) with hypopituitarism were studied. We measured blood pressure, body mass index, waist-to-hip ratio, total body fat, and bone mineral density and the serum levels of lipids, glucose, insulin, pituitary hormones, estradiol, testosterone, and thyroxine, and the excretion of free cortisol in 24-h urine. GHD was confirmed with the insulin intravenous test (IIT) with a GH response to IIT of <3 microg/ml. The control group consisted of 73 healthy adults. RESULTS: Increased levels of LDL-cholesterol and triglycerides and decreased levels of HDL-cholesterol in the GHD group were observed. Fasting serum glucose and insulin levels were significantly higher in the GHD group than in controls. Significant differences in the QUICKI and FIRI indexes were observed. Twenty-three percent of the hypopituitary patients were hypertensive and 65% were obese. The percentage of total body fat was significantly higher in the studied group than in controls. Thirty-seven percent of the GHD patients were osteoporotic and 23% were osteopenic. CONCLUSIONS: An atherogenic lipid profile, insulin resistance, obesity, and increased body and trunk fat in GHD adults may cause the higher risk of cardiovascular disease in these patients. GHD adults should receive human recombinant GH along with conventional replacement therapy. This may be a useful method in protecting against early onset of atherosclerosis, metabolic disturbances, and osteoporosis, especially in young patients.

[Thyroid function in organic lesions of the hypothalamo-pituitary area]. / Funkcja tarczycy u osób ze zmianami organicznymi okolicy podwzgórzowo-przysadkowej.

The aim of our work was the retrospective evaluation of thyroid function in patients with organic lesions of hypothalamo-pituitary system. In the group of 57 examined patients (31 females and 26 males), 43 were affected by pituitary adenomas, in the other patients organic lesions were caused by other tumors of central nervous system (2), tuberculosis (3) developmental or vascular disorders (5), nonspecific inflammation (1). Pituitary tumors (predominantly macroadenomas) were the cause of acromegaly in 14 cases, Cushing's disease in 9 and hyperprolactinaemia in 5. Next 14 subjects, were affected by nonsecreting pituitary tumors with a visual-field defects or different level of hypopituitarism and diabetes insipidus hypothalamo-hypophyseal. In 6 persons clinical manifestations of hypothyroidism with a low level of free thyroxin and normal TSH were observed. Surgical cure with transsphenoidal or transcranial operation was performed in 54 patients. Next 23 of the patients had lowered thyroxine level as a consequence of surgery. Considering the whole 57 person group with organic lesions of the hypothalamo-pituitary system, 29 patients (50.8%) were affected by secondary or tertiary hypothyroidism as a result of sellar and parasellar area illness or their surgical treatment. We didn't observe any correlation between TSH and FT4 in the patients with normal or low plasma FT4 levels. (1) secondary or tertiary hypothyroidism is a common consequence of organic lesions of the sellar and parasellar area or is due by their surgical treatment; (2) laboratory examination of thyroid function in these patients can not be evaluated only by TSH assessment, but also by thyroid hormone plasma level estimation because of the disturbances in thyroid an hypothalamo-pituitary system feedback.

[Evaluation of the influence of sex hormones on homocysteine concentration in pre- and postmenopausal women]. / Ocena wplywu wybranych hormonów na stezenie homocysteiny u kobiet przed menopauza i po menopauzie.

The aim of study was to evaluate the influence of sex hormones: estradiol (E), follicle-stimulating hormone (FSH), progesterone (P), testosterone (T), dehydroepiandrosterone (DHEA-S) and cortisol (F) on the serum homocysteine concentration (HCY) in 40 premenopausal (group M) and 80 postmenopausal (group K) women. The influence of E2 therapy (ET) on the serum HCY level in the women with surgical menopause was also estimated. The plasma HCY concentration in the group M was significantly higher that in group K. After ET serum HCY level decreased significantly. No correlations were found between serum HCY and E2 concentrations in the all groups. No correlations were observed between HCY and FSH, P, T and F concentrations in pre-and postmenopausal groups. There was a significant negative correlation between serum HCY and DHEA-S concentration in group K. This result may indicate, that high level of DHEA decreases HCY concentration. There was no correlation in group M, where the mean concentration of DHEA was lower than in group K. The results of study indicate, that menopause increases and ET decreases plasma HCY concentration. DHEA-S may inhibit plasma HCY concentration in premenopausal women. More studies are needed to elucidate these hypotheses.

[Autoimmune multiglandular syndrome type I--a case study]. / Wielogruczolowa niedoczynnosc wewnatrzwydzielnicza typu 1--opis przypadku.

We have described a case of a rare autoimmune disease, called autoimmune polyglandular syndrome type I (APS type I), in a 44-year-old woman. APS type I is an autosomal recessively inherited disorder, connected with mutations in AIRE (autoimmune regulator) gene. Subsequently, autoantibodies directed towards tissue-specific enzymes are produced, which causes destruction of multiple tissues and organs, first of all--endocrine glands. In the described woman, primary hypoparathyroidism occurred in childhood. Addison disease, chronic candidiasis of the nails and vitiligo developed in adolescence. Before she was 30, a premature ovarian failure, and axilla and pubis alopecia occurred. The last recognized disorders were cholelithiasis and candidiasis of oesophagus. The late diagnosis resulted in numerous complications of the disease and the patient's life quality impairment.

Plasma adiponectin concentration in relation to severity of coronary atherosclerosis and cardiovascular risk factors in middle-aged men.

UNLABELLED: Adiponectin, an adipocyte-derived protein, seems to be a link between obesity, insulin resistance, and atherosclerosis. The present study investigated the association between adiponectin and coronary artery disease in middle-aged men. MATERIAL AND METHODS: We examined 48 men (aged 40-60) with angiographically confirmed coronary atherosclerosis and 19 healthy men, matched by age, as a control group. Concentrations of glucose and lipids were estimated with enzymatic methods. Plasma level of adiponectin, total and free testosterone, estradiol, estrone, DHEA-S, and insulin were estimated with RIA commercial kits. RESULTS: Men with coronary atherosclerosis had lower plasma adiponectin level than controls (16.2+/-9.2 vs 20.5+/-6.7 microg/mL; p<0.05). However, after including BMI and waist as covariate data in ANCOVA, the difference in adiponectin levels between men with CAD and controls lost statistical significance (respectively for BMI and waist: p=0.4 and p=0.7). Moreover, although not significant, adiponectin levels decreased as a function of the number of significantly narrowed coronary arteries. In a priori comparison the lowest adiponectin plasma concentration was in men with three-vessel coronary artery disease (14.3+/-9.8 microg/mL) and the high-est in controls (20.5+/-6.8 microg/mL; p=0.09). Adiponectin plasma level correlated negatively (p<0.05) with BMI, waist, percentage of total fat, fasting-insulin-resistance index (FIRI), total cholesterol and triglycerides, and positively with quantitative insulin sensitivity check index (QUICKI), HDL cholesterol, total testosterone, and total testosterone/estradiol ratio. CONCLUSIONS: Our data suggest that low plasma adiponectin level is connected with insulin resistance syndrome and atherogenic lipid profile. It seems that adiponectin plays a role in pathogenesis of coronary atherosclerosis, especially in obese and insulin-resistant subjects.