1/77. The elevated serum alkaline phosphatase--the chase that led to two endocrinopathies and one possible unifying diagnosis.A 39-year-old Chinese man with hypertension being evaluated for elevated serum alkaline phosphatase (SAP) levels was found to have an incidental right adrenal mass. The radiological features were characteristic of a large adrenal myelolipoma. This mass was resected and the diagnosis confirmed pathologically. His blood pressure normalised after removal of the myelolipoma, suggesting that the frequently observed association between myelolipomas and hypertension may not be entirely coincidental. Persistent elevation of the SAP levels and the discovery of hypercalcaemia after surgery led to further investigations which confirmed primary hyperparathyroidism due to a parathyroid adenoma. The patient's serum biochemistry normalised after removal of the adenoma. The association of adrenal myelolipoma with primary hyperparathyroidism has been reported in the literature only once previously. Although unconfirmed by genetic studies this association may possibly represent an unusual variation of the multiple endocrine neoplasia type 1 syndrome.- - - - - - - - - - ranking = 1keywords = multiple endocrine, endocrine, endocrine neoplasia, multiple endocrine neoplasia, neoplasia (Clic here for more details about this article) |
2/77. Unilateral adrenal medullary hyperplasia: another form of curable hypertension?A case of unilateral adrenal medullary hyperplasia is presented in a 49-year-old caucasian female without multiple endocrine neoplasia association. The patient presented with episodic hypertension and paroxysms suggesting an underlying phaeochromocytoma. Biochemical supported this diagnosis but no discrete tumour was found on preoperative localising studies or at the time of surgery. The patient underwent a unilateral adrenalectomy with confirming adrenal medullary hyperplasia with complete resolution of her symptoms for six months.- - - - - - - - - - ranking = 1keywords = multiple endocrine, endocrine, endocrine neoplasia, multiple endocrine neoplasia, neoplasia (Clic here for more details about this article) |
3/77. Approach to a patient with suspected primary aldosteronism.A typical case of a patient with suspected mineralocorticoid hypertension is discussed. The presentation follows sequential steps through the diagnostic evaluation and treatment of primary aldosteronism. The diagnostic approach can be classified into three phases: screening tests, confirmatory tests, and subtype differentiation studies. It is essential to follow the evaluation steps to elucidate the cause of primary aldosteronism, as this determines the appropriate treatment. Another lesson to learn is the need to critically appraise the value of any endocrine test, particularly if it is likely to influence the management strategy in an individual patient.- - - - - - - - - - ranking = 0.21922345694941keywords = endocrine (Clic here for more details about this article) |
4/77. multiple endocrine neoplasia type 2a. Study of a family.INTRODUCTION: Pheochromocytomas (Pheo) can occur sporadically, isolated or in association with other neuroendocrine lesions. In multiple endocrine neoplasia type 2a (MEN-2A), Pheo is associated to medullary thyroid carcinoma (MTC) or its precursor, C-cell hyperplasia (CCH) and parathyroid hyperplasia. Genetic screening provides early diagnosis and preventive treatment. In order to validate dna analysis as a reliable method of early identification of gene carriers, we compared the results of genetic screening with clinical, biochemical, imaging and pathological findings in the members of an affected family. population AND methods: The diagnosis of a bilateral necrotic Pheo in a female patient led to the study of a family with four generations, aged 3 to 78 years (mean = 30.3 yrs). The study included a clinical examination; basal and pentagastrin stimulated calcitonin values; urinary catecholamines and their metabolites; serum calcium and a genetic study (direct sequence of PCR products from genomic dna isolated from leucocytes using specific primers in exon 11 of the RET protooncogene of chromosome 10). The radiologic study, gammagraphic study (131I-MIBG) and magnetic resonance study were performed in members with clinical suspicion of Pheo. RESULTS: Seven out of nine patients had a mutation on codon 634 of exon 11 of RET (TGC-CGC), leading to cysteine arginine substitution in the codified protein; all gene carriers had biochemical markers of MTC/CCH and four of Pheo. The Pheo patients underwent adrenalectomy (bilateral in three) and all the gene carriers underwent prophylactic thyroidectomy. The pathologic findings were: MTC in four (metastasized in one); CCH in three and parathyroid hyperplasia in one. CONCLUSIONS: Phenotypic penetration of RET mutation was 100% for MTC/CCH, but only 57% of the gene carriers had Pheo. Genetic screening allowed early prophylactic treatment in four out of seven patients; pathologic findings revealed several evolutionary stages of the disease. patients not yet showing Pheo are under close clinical and laboratory surveillance.- - - - - - - - - - ranking = 2.7581005492708keywords = multiple endocrine, endocrine, endocrine neoplasia, multiple endocrine neoplasia, neoplasia (Clic here for more details about this article) |
5/77. Bilateral ovarian steroid cell tumor in congenital adrenal hyperplasia due to classic 11beta-hydroxylase deficiency.An 8.7 year-old patient, raised as a boy, presented with premature appearance of pubic hair and accelerated growth since 2 years of age and ambiguous genitalia noted at birth. There was first degree consanguinity between his parents. A similar problem was reported in a cousin. Examination of the external genitalia revealed complete scrotal fusion, a 5 cm long phallus, urogenital sinus at base of phallus with no gonads palpable. pigmentation was increased. His blood pressure was 150/100 mm Hg. Pubic and axillary hair were at stage 3. Bone age was 17 years. Adrenal ultrasound was normal. Pelvic ultrasound showed relatively enlarged uterus and ovaries with normal echogenicity. karyotype was 46,XX. Hormone profile was compatible with congenital adrenal hyperplasia (CAH) due to 11beta-hydroxylase deficiency (11-deoxycortisol: 11.5 nmol/l [400 ng/dl] [normal: 0.6-4.5 nmol/l [20-155 ng/ml]], androstenedione: 17.4 nmol/l [5 ng/ml] [normal: 0.1-1.2 nmol/l [0.03-0.35 ng/ml]]). prednisolone and antihypertensive drugs were started. The patient underwent bilateral salpingo-oophorectomy and hysterectomy at 9.1 years. Histopathological examination of both ovaries revealed steroid cell tumor. The type of the tumor was "not otherwise specified" (NOS). Basal hormone levels and ACTH test performed 10 months after the operation and 7 days off treatment reconfirmed the diagnosis of 11beta-hydroxylase deficiency. Steroid cell tumors are extremely rare forms of steroid hormone-reducing ovarian neoplasms in childhood and may coexist with or imitate virilizing CAH.- - - - - - - - - - ranking = 0.00040146926196421keywords = neoplasm (Clic here for more details about this article) |
6/77. Malignant pheochromocytoma lacking clinical features of catecholamine excess until the late stage.A malignant pheochromocytoma is described in a 71-year-old man. Osseous metastases became manifest 12 years after successful removal of the primary tumor which originated in paraganglionic tissue near the right adrenal gland. Although the patient had no symptoms of catecholamine excess initially, hypertension, tachycardia and excessive sweating appeared several months before his death, concomitantly with a sharp increase in noradrenaline secretion due to an accelerated growth of metastatic tumors. Since there is no histologic criterion of malignancy in this neoplasm, it would be prudent to consider every case of pheochromocytoma as potentially malignant and to follow-up carefully for a long time after removal of the primary tumor.- - - - - - - - - - ranking = 0.00040146926196421keywords = neoplasm (Clic here for more details about this article) |
7/77. polyarteritis nodosa mimicking prostatic cancer.We describe a 72-year-old man with prostate enlargement, prostate-specific antigen level of 35 ng/dl, mild polyarthritis, and constitutional symptoms. Prostatic ultrasonography suggested neoplasm; however, transrectal biopsy revealed findings consistent with polyarteritis nodosa (PAN). The patient went on to develop leg paresthesia and dysesthesia, increased serum creatinine, and systemic hypertension. steroids and intravenous cyclophosphamide were administered, followed by improvement. Our case emphasizes the protean onset of PAN, and provides a new differential diagnosis of prostatic diseases related to elevated prostate-specific antigen.- - - - - - - - - - ranking = 0.00040146926196421keywords = neoplasm (Clic here for more details about this article) |
8/77. Hypertension in the young adult--come feel the pulse.Hypertension occurring in teenagers and young adults is uncommon. Though the most common form is still essential hypertension, secondary causes are more commonly found here than in older adults. Renal, cardiovascular and endocrine diseases constitute most of these causes. Coarctation of the aorta is the most common cardiovascular cause of hypertension, and its importance lies in the fact that it is correctable, and that its persistence often leads to dangerous complications and early death. The cardinal sign of differential pulse and blood pressures between the upper and lower limbs can be detected clinically. Hence, the importance of a detailed physical examination in all young hypertensives, including palpation of all the pulses, cannot be overemphasized. We present 2 hypertensive young men who were found to have isolated coarctation of the aorta.The lesion in the first patient was located postductally just distal to the left subclavian artery.This area has been found to be the most common site of coarctation.The second patient had an unusual mid-thoracic coarctation. The clinical and radiological features as well as complications are highlighted. In young hypertensive patients, a high index of suspicion may enable the physician to make a timely diagnosis and hence avert the potentially disastrous complications that may arise in undetected cases.- - - - - - - - - - ranking = 0.21922345694941keywords = endocrine (Clic here for more details about this article) |
9/77. Cardiac phaeochromocytoma presenting with severe hypertension and chest pain.Cardiac phaeochromocytoma is a rare cause of endocrine hypertension. We report a case of a 25-year-old woman, who presented with severe hypertension and intermittent chest pain. The patient denied typical phaeochromocytoma spells of palpitation, headache, and diaphoresis. The 24-hr urinary excretion of norepinephrine was increased sevenfold above the upper limit of normal; however, the excretion of total metanephrines, epinephrine, and dopamine were normal. Computed tomography (CT) scan of the abdomen was normal. An 131I-labelled metaiodobenzylguanidine (MIBG) scan was falsely negative while the patient was taking labetalol. The cardiac phaeochromocytoma was localized with indium-111-pentetreotide scintigraphy and chest magnetic resonance imaging scan. Repeat 123I-MIBG scintigraphy was positive after discontinuing labetalol. The cardiac phaeochromocytoma was located in the right atrial groove, adjacent to the tricuspid valve, and contained multiple feeder arteries from the right coronary artery. After treatment with volume expansion, alpha-methyl-p-tyrosine, and alpha- and beta-adrenergic blockade, surgical resection was performed. While under cardiopulmonary bypass, coronary bypass grafting and tricuspid annuloplasty were performed to facilitate the complete surgical resection of the 4.5-cm tumour. The surgical course was uncomplicated, with complete cure of hypertension and normalization of catecholamine excretion. Post-operative cardiac function, as measured by echocardiogram, was normal. Although cardiac phaeochromocytoma may be highly vascular, invasive and difficult to resect, it can be cured.- - - - - - - - - - ranking = 0.21922345694941keywords = endocrine (Clic here for more details about this article) |
10/77. Typical and atypical Carney's triad presenting with malignant hypertension and papilledema.This report encourages clinicians to consider a diagnosis of Carney's triad in patients with multifocal gastric stromal sarcoma, extraadrenal paraganglioma (predominantly mediastinal), or pulmonary chondroma. The authors conducted a retrospective 20-year survey at the Hospital for Sick Children and identified two children with Carney's triad. One child, presenting atypically with papilledema and fundal hemorrhages from malignant hypertension and benign intracranial hypertension from chronic iron-deficiency anemia, is the second patient ever to date be described with the complete Carney's triad of neoplasms at diagnosis. Another child presented more typically with gastric stromal sarcoma and pulmonary chondroma without paraganglioma. Carney's triad is a rare differential diagnosis for "idiopathic" hypertension or iron-deficiency anemia from chronic gastrointestinal bleeding. If missed, patients with Carney's triad may have the debilitating physical and mental consequences of chronic iron deficiency and may die of untreated prolonged hypertension and metastatic leiomyosarcoma.- - - - - - - - - - ranking = 0.00040146926196421keywords = neoplasm (Clic here for more details about this article) |
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