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diabetes insipidus [keywords]
- Pretreatment Diagnosis of Suprasellar Papillary Craniopharyngioma and Germ Cell Tumors of Adult Patients. [JOURNAL ARTICLE]
- AJNR Am J Neuroradiol 2014 Oct 22.
Suprasellar papillary craniopharyngiomas and germ cell tumors in adults share some clinical and imaging similarities but have different therapeutic strategies and outcomes. This study aimed to evaluate the pretreatment diagnosis of these 2 tumors to improve the therapeutic outcome.We retrospectively enrolled 18 adults with papillary craniopharyngiomas and 17 with germ cell tumors. The MR imaging findings were evaluated, including signal change and anatomic extension. The medical records were reviewed to collect clinical findings, management, and outcomes.The clinical findings of papillary craniopharyngiomas versus germ cell tumors were as follows: age: 46 ± 13.9 years versus 23 ± 7.1 years (P < .0001); diabetes insipidus: 2/18 (11%) versus 11/17 (65%) (P = .001); recurrence 13/16 (81%) versus 4/17 (24%) (P = .0031). The MR imaging findings of papillary craniopharyngiomas versus germ cell tumors were as follows-pituitary stalk thickening: 1.6 ± 0.4 mm versus 5.4 ± 4.2 mm (P < .0001); vertical infundibular extension: 1/18 (6%) versus 16/17 (94%) (P < .0001); sagittal spheric shape: 17/18 (94%) versus 1/17 (6%) (P < .0001); diffusion restriction: 1/17 (6%) versus 8/12 (67%) (P = .0009).Younger age, diabetes insipidus, MR imaging characteristics of restricted diffusion, and vertical infundibular extension favor the diagnosis of germ cell tumors. Spheric shape without infundibular infiltration provides clues to papillary craniopharyngiomas, which originate from the pars tuberalis and are located outside the third ventricle. We suggest that suprasellar germ cell tumor is possibly an intraventricular lesion. Appropriate treatment planning can be initiated according to the diagnosis and anatomic location.
- Pediatric Longitudinal Clivus Fracture: Survival With Minimal Morbidity. [JOURNAL ARTICLE]
- J Intensive Care Med 2014 Oct 21.
Longitudinal clivus fractures are rare in children, with only 5 cases published in the English literature to date. Clivus fractures, particularly longitudinal type, are associated with high mortality and morbidity. We report a case of longitudinal clivus fracture in a teenager with survival and complete neurological recovery. Our case is the first pediatric case of longitudinal clivus fracture caused by frontal impact and the first described pediatric case associated with transient diabetes insipidus (DI).
- Phaeochromocytoma presenting with polyuria: an uncommon presentation of a rare tumour. [Journal Article]
- Endocrinol Diabetes Metab Case Rep 2014.:140060.
Children rarely present with phaeochromocytoma. Their presentation differs from that of adults. The classic triad of sweating, headache and palpitation may not always present in children with phaeochromocytoma. In this study, we present a 6-year-old girl who came to us with polyuria and polydipsia for evaluation of suspected diabetes insipidus. She gave a clear history of increased sweating in the recent past. On clinical examination, she was noted to have high blood pressure. Subsequent investigations revealed a phaeochromocytoma. Her polyuria and hypertension resolved immediately after the surgery. We did not have the facilities to arrange for genetic tests; however, the patient and the family members are under follow-up for other associated conditions.Polyuria and polydipsia are rare symptoms of phaeochromocytoma.Complete physical examination prevented unnecessary investigations for polyuria and led to a correct diagnosis.Classic features are not always necessary for diagnostic evaluation of rare diseases.
- Lithium Dosing and Serum Concentrations Across the Age Spectrum: From Early Adulthood to the Tenth Decade of Life. [JOURNAL ARTICLE]
- Drugs Aging 2014 Oct 21.
Little is known about how lithium should be dosed to achieve therapeutic but safe serum concentrations in older adults. In this paper, we investigate how the lithium dose-concentration ratio changes across the lifespan.This was a cross-sectional analysis of 63 current lithium users aged 20-95 years using data from McGLIDICS (the McGill Geriatric Lithium-Induced Diabetes Insipidus Clinical Study). Participants underwent blood and urine tests, including serum lithium concentrations. Multivariate analyses were conducted to evaluate potential correlates of the lithium dose-concentration ratio.We found that between the ages of 40-95 years, the total daily dose of lithium required to achieve a given serum concentration decreases threefold (500 vs. 1,500 mg for 1.0 mmol/L). Greater age, once-daily dosing, and lower renal function (estimated glomerular filtration rate) were independently associated with a lower lithium dose-concentration ratio.The lithium dose required to achieve a given serum lithium concentration decreases threefold from middle to old age, with this trend continuing into the ninth and tenth decades of life. In order to avoid lithium toxicity in aging patients, continued serum concentration monitoring and judicious dose reduction may be required, particularly in those patients with reduced renal function.
- Analysis of short- and long-term metabolic effects of growth hormone replacement therapy in adult patients with craniopharyngioma and non-functioning pituitary adenoma. [JOURNAL ARTICLE]
- J Endocrinol Invest 2014 Oct 21.
Adult patients operated for craniopharyngioma develop more frequently GH deficiency (GHD) than patients operated for non-functioning pituitary adenoma (NFPA). The aim of the study was to compare both short- (1 year) and long-term (5 years) effects of rhGH in 38 GHD adult patients (19 operated for Craniopharyngioma (CP) and 19 for NFPA).IGF-I levels, body composition (BF %), BMI, lipid profile and glucose homeostasis were evaluated in all patients. Pituitary MRI was performed at baseline and during follow-up, as needed.At baseline no difference between the two groups was observed, apart from a higher prevalence of diabetes insipidus in CP patients (79 vs 21 %). After 12 months, IGF-I SDS normalized and BF % significantly decreased only in the NFPA group. During long-term treatment, decrease in BF % and improvement in lipid profile shown by reduction in total- and LDL-cholesterol were present in NFPA group only, while increase in insulin levels and HbA1c and decrease of QUICKI were observed in CP patients only. Accordingly, after long-term therapy, the prevalence of metabolic syndrome (MS) was significantly higher in CP than in NFPA group (37 % in CP and in 5 % in NFPA group; p < 0.05).The present data suggest that CP patients are less sensitive to the positive rhGH effects on lipid profile and BF % and more prone to insulin sensitivity worsening than NFPA patients, resulting in increased prevalence of MS in CP only.
- Clinical Characteristics, Management, and Outcome of 22 Cases of Primary Hypophysitis. [JOURNAL ARTICLE]
- Endocrinol Metab (Seoul) 2014 May 27.
Primary hypophysitis causes varying degrees of endocrine dysfunction and mass effect. The natural course and best treatment have not been well established.Medical records of 22 patients who had been diagnosed with primary hypophysitis between January 2001 and March 2013 were retrospectively reviewed. Based on the anatomical location, we classified the cases as adenohypophysitis (AH), infundibuloneurohypophysitis (INH), and panhypophysitis (PH). Clinical presentation, endocrine function, pathologic findings, magnetic resonance imaging findings, and treatment courses were reviewed.Among 22 patients with primary hypophysitis, 81.8% (18/22) had involvement of the posterior pituitary lobe. Two patients of the AH (2/3, 66.6%) and three patients of the PH (3/10, 30%) groups initially underwent surgical mass reduction. Five patients, including three of the PH (3/10, 33.3%) group and one from each of the AH (1/3, 33.3%) and INH (1/9, 11.1%) groups, initially received high-dose glucocorticoid treatment. Nearly all of the patients treated with surgery or high-dose steroid treatment (9/11, 82%) required continuous hormone replacement during the follow-up period. Twelve patients received no treatment for mass reduction due to the absence of acute symptoms and signs related to a compressive mass effect. Most of them (11/12, 92%) did not show disease progression, and three patients recovered partially from hormone deficiency.Deficits of the posterior pituitary were the most common features in our cases of primary hypophysitis. Pituitary endocrine defects responded less favorably to glucocorticoid treatment and surgery. In the absence of symptoms related to mass effect and with the mild defect of endocrine function, it may not require treatment to reduce mass except hormone replacement.
- Clinical overview of nephrogenic diabetes insipidus based on a nationwide survey in Japan. [Journal Article]
- Yonago Acta Med 2014 Jun; 57(2):85-91.
Nephrogenic diabetes insipidus (NDI) is a rare disease whose complications include polyuria, renal dysfunction, growth disorder and mental retardation. The details of NDI's clinical course have been unclear. To address this uncertainty, we performed a large investigation of the clinical course of NDI in Japan.Between December 2009 and March 2011, we provided a primary questionnaire to 26,282 members of the Japan Endocrine Society, the Japanese Urological Association, the Japanese Society for Pediatric Endocrinology, the Japanese Society for Pediatric Nephrology, the Japanese Society of Nephrology, the Japanese Society of Neurology and the Japanese Society of Pediatric Urology. In addition, we provided a secondary questionnaire to 121 members who reported experience with cases of NDI. We asked about patient's age at onset, diagnosis, complications, effect of treatment and patient's genotype.We enrolled 173 patients with NDI in our study. Of these NDI patients, 143 were congenital and 30 were acquired. Of the 173, 73 patients (42%) experienced urologic complications. Among the 143 with congenital NDI, 20 patients (14%) had mental retardation. Patients with NDI mainly received thiazide diuretics, and some patients responded to treatment with desmopressin acetate (DDAVP). Gene analyses were performed in 87 patients (61%) with congenital NDI, revealing that 65 patients had an arginine vasopressin receptor type 2 (AVPR2) gene mutation and that 8 patients (9.2%) had an aquaporin 2 (AQP2) gene mutation. Patients with the AVPR2 mutation (D85N) generally showed a mild phenotype, and we found that DDAVP was generally an effective treatment for NDI among these patients.We suggest that adequate diagnosis and treatment are the most important factors for improving prognoses. We further suggest that gene analysis should be performed for optimal treatment selection and the early detection of NDI among siblings.
- A case of severe hyperaldosteronism caused by a de novo mutation affecting a critical 'salt bridge' Kir3.4 residue. [JOURNAL ARTICLE]
- J Clin Endocrinol Metab 2014 Oct 16.:jc20143636.
Context: Familial hyperaldosteronism type III (FH-III) is a rare and clinically heterogeneous condition, that can display mild as well as severe phenotypes. Point mutations in the KCNJ5 gene, affecting the ion selectivity of the inward rectifier K(+) channel 4 (Kir3.4), underlie the molecular basis of FH-III. Objective: To investigate the effects of a de novo germline KCNJ5 mutation. Patients and Methods: We describe the case of a girl, who came to medical attention at the age of two years because of polydipsia, polyuria and failure to thrive. The patient, affected by hypertension and hypokalemia, was diagnosed with primary aldosteronism on the basis of extremely high aldosterone levels and suppressed plasma renin activity. Genomic DNA was isolated and KCNJ5 sequenced. Human adrenocortical cells were used as an in vitro model for the functional characterization of the mutant channel. Results: KCNJ5 sequencing in the index case and her parents revealed a de novo p.Glu145Gln germline mutation. The substitution resulted in Na(+)-dependent depolarization of adrenal cells and increased intracellular calcium concentration, which activated the transcription of NR4A2 and, in turn, CYP11B2. Pharmacological studies revealed that the mutant channel was insensitive to tertiapin-Q and calcium-channel blocker verapamil. Conclusions: Herein we report the identification of a novel KCNJ5 germline mutation responsible for severe hyperaldosteronism that presented in infancy with symptoms of diabetes insipidus. The findings of this study further elucidate the etiology of FH-III and expand our knowledge of this rare condition.
- Hypopituitarism after subarachnoid haemorrhage, do we know enough? [JOURNAL ARTICLE]
- BMC Neurol 2014 Oct 14; 14(1):205.
BackgroundFatigue, slowness, apathy and decrease in level of activity are common long-term complaints after a subarachnoid haemorrhage (SAH). They resemble the symptoms frequently found in patients with endocrine dysfunction. Pituitary dysfunction may be the result of SAH or its complications. We therefore hypothesized that it may explain some of the long-term complaints after SAH.We reviewed the literature to clarify the occurrence, pattern and severity of endocrine abnormalities and we attempted to identify risk factors for hypopituitarism after SAH. We also assessed the effect of hypopituitarism on long-term functional recovery after SAH.MethodsIn a MEDLINE search for studies published between 1995 and 2014, we used the term subarachnoid haemorrhage in combination with pituitary, hypopituitarism, growth hormone, gonadotropin, testosterone, cortisol function, thyroid function and diabetes insipidus. We selected all case-series and cohort studies reporting endocrine function at least 3 months after SAH and studied their reported prevalence, pathogenesis, risk factors, clinical course and outcome.ResultsWe identified 16 studies describing pituitary function in the long term after SAH. The reported prevalence of endocrine dysfunction varied from 0 to 55% and the affected pituitary axes differed between studies. Due to methodological issues no inferences on risk factors, course and outcome could be made.ConclusionsNeuroendocrine dysfunction may be an important and modifiable determinant of poor functional outcome after SAH. There is an urgent need for well-designed prospective studies to more precisely assess its incidence, clinical course and effect on mood, behaviour and quality of life.
- Adult multisystem langerhans cell histiocytosis presenting with central diabetes insipidus successfully treated with chemotherapy. [Journal Article]
- Endocrinol Metab (Seoul) 2014 Sep; 29(3):394-9.
We report the rare case of an adult who was diagnosed with recurrent multisystem Langerhans cell histiocytosis (LCH) involving the pituitary stalk and lung who present with central diabetes insipidus and was successfully treated with systemic steroids and chemotherapy. A 49-year-old man visited our hospital due to symptoms of polydipsia and polyuria that started 1 month prior. Two years prior to presentation, he underwent excision of right 6th and 7th rib lesions for the osteolytic lesion and chest pain, which were later confirmed to be LCH on pathology. After admission, the water deprivation test was done and the result indicated that he had central diabetes insipidus. Sella magnetic resonance imaging showed a mass on the pituitary stalk with loss of normal bright spot at the posterior lobe of the pituitary. Multiple patchy infiltrations were detected in both lung fields by computed tomography (CT). He was diagnosed with recurrent LCH and was subsequently treated with inhaled desmopressin, systemic steroids, vinblastine, and mercaptopurine. The pituitary mass disappeared after two months and both lungs were clear on chest CT after 11 months. Although clinical remission in multisystem LCH in adults is reportedly rare, our case of adult-onset multisystem LCH was treated successfully with systemic chemotherapy using prednisolone, vinblastine, and 6-mercaptopurine, which was well tolerated.