1/36. Incorrect diagnosis of diabetes mellitus in a patient with persistence of fetal haemoglobin.A 65-year-old woman, referred to the endocrine clinic for investigation of tiredness and arthritis, was diagnosed as having diabetes on the basis of a positive family history and a raised glycated haemoglobin (HbA1) measurement. Subsequently, she was shown not to have diabetes but to have a persistently raised haemoglobin F (HbF) level. Initial assessment of HbF level by electroendosmosis demonstrated a normal HbF level but high values were confirmed using HPLC. Thalassaemia was excluded following dna analysis. This case illustrates the importance of a glucose tolerance test following WHO criteria for the diagnosis of diabetes and emphasises that HbA1 is not a diagnostic test for diabetes.- - - - - - - - - - ranking = 1keywords = endocrine (Clic here for more details about this article) |
2/36. diabetes mellitus and profound insulin resistance in Johanson-Blizzard syndrome.Pancreatic exocrine insufficiency in Johanson-Blizzard syndrome (JBS) is well described but only two previous patient reports document pancreatic endocrine insufficiency manifested as diabetes mellitus, and each patient required only a modest dose of insulin to control hyperglycemia. We report a patient with JBS and new-onset diabetes mellitus with profound insulin resistance, with no clinical or laboratory evidence of pancreatic exocrine insufficiency.- - - - - - - - - - ranking = 1keywords = endocrine (Clic here for more details about this article) |
3/36. A unique case of central diabetes insipidus (DI) associated with transient pituitary stalk enlargement: close observation over several years using magnetic resonance imaging (MRI) and hypophysial endocrine tests.We had the opportunity to closely observe a unique case of central diabetes insipidus (DI), in which dramatic changes in both radiological findings and hypophysial functions were seen. A 63-year-old female developed central DI, and magnetic resonance imaging (MRI) revealed a mild thickening of the pituitary stalk and lack of hyperintense signal associated with normal neurohypophysis on T1-weighted images. About three months later, the stalk was found to be remarkably expanded like neoplasm; however, anterior pituitary functions were almost normal on that occasion, except for the absence of GH response to an insulin tolerance test. About nine months after the onset of DI, secondary hypoadrenalism and hypothyroidism, which required replacement therapy, developed transiently, but recovered about one year later. Results of hypophysial endocrine tests during this period showed that the dysfunction was predominantly suprapituitary in nature. As time passed, the stalk lesion began to shrink spontaneously and another MRI, obtained five years after the onset of DI, disclosed normal findings for the infundibulo-hypophysial system, except for lack of the hyperintense signal of the neurohypophysis. The patient has since been healthy, except for the DI, which has been controlled by treatment with vasopressin. We report here a unique case of central DI associated with transient pituitary stalk enlargement.- - - - - - - - - - ranking = 5keywords = endocrine (Clic here for more details about this article) |
4/36. Neonatal diabetes mellitus: patient report and review of the literature.A female infant born at 33 weeks gestation to a gestationally diabetic mother developed apnea and respiratory distress at 6 hours of age. Laboratory investigation demonstrated persistent hyperglycemia, and the patient was treated with continuous intravenous and subsequent subcutaneous insulin therapy. Detailed laboratory investigation to reveal the etiology of hyperglycemia and further endocrine evaluation were not significant. The baby's insulin requirement has continued thereafter, and she is being followed up in an outpatient clinic still under insulin therapy at 18 months of age. Neonatal diabetes mellitus should be considered in the differential diagnosis of neonatal hyperglycemia, and it may develop in newborns born to diabetic mothers, as well as neonatal hypoglycemia. Insulin treatment with close blood glucose monitoring is essential as long as hyperglycemia persists since neonatal diabetes mellitus may be either transient or permanent and it is not possible to differentiate these two outcomes before 18 months of age.- - - - - - - - - - ranking = 1keywords = endocrine (Clic here for more details about this article) |
5/36. growth-arrest and inhomogenous echotexture of the affected testis after tumor enucleation for unilateral leydig cell tumor.The authors report on an 8-year-old boy with unilateral left-sided leydig cell tumor. After enucleation of the tumor, endocrine disturbances resolved. Long-time follow-up for more than 7 years was characterized by growth-arrest of the affected gonad and the unchanged appearance of a circumscribed hypoechogenic residual lesion within the testis.- - - - - - - - - - ranking = 1keywords = endocrine (Clic here for more details about this article) |
6/36. silver-russell syndrome associated to Mayer-Rokitansky-Kuster-Hauser syndrome, diabetes and hirsutism.We report an unusual association of two rare conditions, the silver-russell syndrome and the Mayer-Rokitansky-Kuster-Hauser syndrome, with extra endocrine anomalies. A 15-year old silver-russell syndrome girl was referred to our Unit because of primary amenorrhea and hirsutism of adrenal origin. A thorough assessment confirmed previous diagnoses and revealed the presence of diabetes, hyperinsulinism and a complete Mayer-Rokitansky-Kuster-Hauser syndrome with an ectopic localization of both ovaries. Although initial medical treatment was not unsatisfactory, future medical, psychological and social implications are expected.- - - - - - - - - - ranking = 1keywords = endocrine (Clic here for more details about this article) |
7/36. Duodenal somatostatinoma presenting with complete somatostatinoma syndrome.Somatostatinomas are the rarest pancreatic endocrine tumors and can arise in the pancreas or duodenum. Duodenal somatostatinomas are less common than, and are distinguished from, their pancreatic counterparts by a frequent association with type I neurofibromatosis, the presence of psammoma bodies, the less frequent presence of metastatic disease, and the absence of somatostatinoma syndrome (diabetes mellitus, steatorrhea, and cholelithiasis). We report a case of somatostatinoma with metastases and psammoma bodies presenting with all three features of the syndrome in a patient with neurofibromatosis. Although several reports have documented portions of the syndrome in patients with duodenal somatostatinomas, to our knowledge, this is the first report of the complete syndrome associated with a duodenal lesion.- - - - - - - - - - ranking = 1keywords = endocrine (Clic here for more details about this article) |
8/36. Multifocal Pott's disease (tuberculous spondylitis) incidentally detected on Tc-99m MDP bone and Ga-67 citrate scintigraphy in a patient with diabetes.Pott's disease is an uncommon extrapulmonary form of tuberculosis. Delay in diagnosis and management may cause serious complications. The authors describe Pott's disease incidentally detected on Tc-99m MDP bone and Ga-67 imaging in a patient with diabetes. Tc-99m MDP bone scintigraphy showed intensely increased uptake in the lower cervical spine and lumbosacral regions. Ga-67 scintigraphy revealed intensely increased uptake corresponding to the areas noted on Tc-99m MDP bone scintigraphy. magnetic resonance imaging showed destructive lesions in the C5-C6 and L5-S1 intervertebral discs with destruction of adjacent end plates. biopsy of the lumbosacral area was guided by computed tomography, and histologic examination of the bone specimen showed caseation, giant cells, and acid-fast bacilli. Posterior decompression and posterolateral spinal fusion with bone grafts were performed. Antituberculous chemotherapy with isoniazid, rifampicin, pyrazinamide, and ethambutol was started. The patient showed remarkable relief of symptoms during a period of 9 months of therapy. Both Tc-99m MDP bone and Ga-67 imaging can offer the convenience of screening the entire body to detect multiple sites of Pott's disease.- - - - - - - - - - ranking = 0.10153841358855keywords = tuberculosis (Clic here for more details about this article) |
9/36. A novel AIRE mutation in an APECED patient with candidiasis, adrenal failure, hepatitis, diabetes mellitus and osteosclerosis.Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare autosomal recessive disorder, which is characterized by an immune-mediated destruction of endocrine tissues, chronic candidiasis and ectodermal disorders. In contrast to many other autoimmune diseases, APECED is associated with mutations of a single gene, designated autoimmune regulator (AIRE). We describe an APECED patient with severe deformities of the tibia with radiological signs of metaphyseal dysplasia in addition to candidiasis, hepatitis, diabetes mellitus and adrenal failure. In this patient, we identified a novel AIRE mutation in association with the C322fsX372 mutation in exon 8, which is frequently detected in Caucasian patients. The frame shift mutation G263fsX377 in exon 6 results in a protein lacking both PHD zinc-finger domains similar to the R257 X mutation. This novel mutation was not found in 50 German controls.- - - - - - - - - - ranking = 1keywords = endocrine (Clic here for more details about this article) |
10/36. Diseases associated with calcium pyrophosphate deposition disease.Although many metabolic and endocrine diseases have been reported to predispose to calcium pyrophosphate dihydrate crystal deposition, the validity of many of these associations remains unclear. A critical review of the literature relating to these associations, with illustrative cases and data derived from the authors' own experience, is presented. It is concluded that there is good evidence to associate hypophosphatasia, hypomagnesemia, and hyperparathyroidism with chondrocalcinosis and acute attacks of "pseudogout." meta-analysis also suggests a small but significant association between hypothyroidism and chondrocalcinosis. hemochromatosis stands alone in clearly associating not only with chondrocalcinosis but also with structural change and chronic arthropathy. The biochemical mechanisms that may produce these various associations are discussed. Recommendations are made concerning appropriate screening for metabolic and endocrine disease in patients with chondrocalcinosis.- - - - - - - - - - ranking = 2keywords = endocrine (Clic here for more details about this article) |
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