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    Central diabetes insipidus unmasked by corticosteroid therapy for cerebral metastases: beware the case with pituitary involvement and hypopituitarism.
    J R Coll Physicians Edinb 2017 Sep;47(3):247-249
    HX Chin, Department of Endocrinology, Tan Tock Seng Hospital, Singapore. Email:
    Patients with intra-cerebral metastases often receive glucocorticoids, particularly in the presence of peri-lesional vasogenic cerebral oedema. We present a case of presumptive lung carcinoma with cerebral metastases where central diabetes insipidus was unmasked after glucocorticoid administration and correction of undiagnosed central hypocortisolism. Read More

    Copeptin role in polyuria-polydipsia syndrome (PPS) differential diagnosis and reference range in paediatric age.
    Clin Endocrinol (Oxf) 2018 Feb 21. Epub 2018 Feb 21.
    Department of Paediatric Endocrinology, Regina Margherita Children's Hospital, Department of Public Health and Paediatric Sciences, University of Turin.
    Objective: Plasma arginine-vasopressin (AVP) analysis can help in the differential diagnosis of the polyuria-polydipsia syndrome (PPS), even if such investigation is hampered by technical difficulties, conversely to its surrogate copeptin. This study aims to enlarge the existing data on normal copeptin levels in childhood, to evaluate the correlation between copeptin, serum sodium and plasma and urine osmolality, and to assess the utility of the copeptin analysis in the diagnostic work-up of PPS in the paediatric age.

    Patients And Methods: Plasma copeptin levels were evaluated in 53 children without AVP disorders (control population), in 12 hypopituitaric children and in 15 patients with PPS after water deprivation test (WDT). Read More

    Diabetes insipidus in pregnancy: how to advice the patient?
    Minerva Endocrinol 2018 Feb 19. Epub 2018 Feb 19.
    Clinic of Endocrinology, Diabetology and Metabolism University Hospital Basel, Basel, Switzerland -
    Diabetes insipidus, characterized by polyuria and polydipsia, is a rare disease during pregnancy. Nevertheless, its recognition is important to avoid complications due to dehydration and hypernatremia. Its manifestation during pregnancy ranges from exacerbation of pre-existing central or nephrogenic diabetes insipidus to transient pregnancy-induced diabetes insipidus due to the increased metabolism of the antidiuretic hormone vasopressin by the placental vasopressinase. Read More

    Time for change: Renaming Diabetes Insipidus to improve patient safety?
    Clin Endocrinol (Oxf) 2018 Feb 20. Epub 2018 Feb 20.
    Croydon University Hospital Ringgold standard institution, Department of Endocrinology, Croydon, United Kingdom of Great Britain and Northern Ireland.
    Diabetes Insipidus (DI) is a name given historically to two conditions, which result in 'diabetes', which is Greek for 'syphon' or polyuria. The "Insipidus" refers to urine being insipid. 'Cranial DI' is so called because it relates to a cause within the head characterised by deficiency of vasopressin [antidiuretic hormone (ADH)] secretion from the posterior pituitary. Read More

    Clinical, Endocrine and Imaging Characteristics of Patients with Primary Hypophysitis.
    Horm Metab Res 2018 Feb 19. Epub 2018 Feb 19.
    Department of Pathophysiology, Endocrine Oncology Unit, Laiko Hospital, National and Kapodistrian University of Athens, Greece.
    Primary hypophysitis (PH) is a rare disease with a poorly-defined natural history. Our aim was to characterise patients with PH at presentation and during prolonged follow-up. Observational retrospective study of 22 patients was conducted from 3 centres. Read More

    Endoscopic Endo-Nasal Trans-Sphenoidal Excision of Pituitary Tumors: An Institutional Experience.
    Indian J Otolaryngol Head Neck Surg 2018 Mar 7;70(1):98-101. Epub 2017 Sep 7.
    1Department of Otorhinolaryngology, Christian Medical College and Hospital, Ludhiana, Punjab 141008 India.
    To analyze the clinical presentation, management and outcomes of patients with pituitary adenoma treated by Endoscopic Endo-nasal Trans-sphenoidal (EETS) excision. Study was conducted on the basis of medical records of 14 patients who had undergone EETS excision of pituitary adenomas. The data obtained was assessed for demographic and clinical characteristics, radiographic features and post-operative outcomes. Read More

    Xanthogranulomatous pituitary adenoma: A case report and literature review.
    Mol Clin Oncol 2018 Mar 10;8(3):445-448. Epub 2018 Jan 10.
    Department of Neurosurgery, The First Hospital of Jilin University, Changchun, Jilin 130021, P.R. China.
    Xanthogranuloma, also referred to as cholesterol granuloma or xanthogranulomatous reaction, is a granulomatous lesion that is infrequently found in the sellar and parasellar regions. Xanthogranulomatous pituitary adenoma is relatively rare and, thus, the etiology, diagnosis, management and prognosis of this condition remain incompletely understood. We herein report the case of a 56-year-old female patient who presented to our institution with intermittent headache, vomiting and distending pain in the bilateral orbital regions. Read More

    Perioperative lumbar drain utilization in transsphenoidal pituitary resection.
    Neurosciences (Riyadh) 2018 Jan;23(1):46-51
    Department of Neurosurgery, King Faisal Specialist Hospital & Research Center, Riyadh, Kingdom of Saudi Arabia. E-mail:
    Objective: To evaluate lumbar drain (LD) efficacy in transnasal resection of pituitary macroadenomas in preventing postoperative cerebrospinal fluid (CSF) leak, technique safety, and effect on length of hospital stay.

    Methods: We conducted a retrospective data review of pituitary tumor patients in our institution who underwent surgery between December 2006 and January 2013. All patients were operated on for complete surgical resection of pituitary macroadenoma tumors. Read More

    Endoscopic transsphenoidal approach to skull base lesions. A clinical prospective study.
    Neurosciences (Riyadh) 2018 Jan;23(1):35-38
    College of Medicine, Baghdad University, Baghdad, Iraq.
    Objective: To review the patients operated by endoscopic transphenoidal approach for skull base lesions. All the clinical data including age, gender, type of pathology, surgical outcome and surgical complications were studied.

    Methods: A clinical prospective study was conducted on 94 cases with skull base lesion that were treated in Neuroscience Hospital in Baghdad, Iraq between October 2011 and December 2016. Read More

    A ten-year follow-up study of treatment outcome of craniopharyngiomas.
    Swiss Med Wkly 2018 Feb 14;148:w14521. Epub 2018 Feb 14.
    Department of Endocrinology, Bern University Hospital, Inselspital, Switzerland / Department of Endocrinology, Diabetology and Metabolism, University Hospital of Basel, Switzerland.
    Purpose: Craniopharyngioma-related hypothalamic obesity is a devastating complication with limited data on whether long-term follow-up should focus on problems other than endocrine deficiencies and weight gain. The primary endpoint was the assessment of predictors of hypothalamic obesity development; the secondary endpoint was the assessment of functional outcome (endocrine deficiencies, visual acuity) at long-term follow-up.

    Methods: This retrospective case-note study examined craniopharyngioma patients with at least 2 years of follow-up. Read More

    'If there were water we should stop and drink': neurofibromatosis presenting with diabetes insipidus.
    BMJ Case Rep 2018 Feb 11;2018. Epub 2018 Feb 11.
    Department of Neurology, Mercy University Hospital, Cork, Ireland.
    A 58-year-old right-handed woman presented to our institution with a 1-month history of polydipsia and polyuria. She had a remote history of neurofibroma excision by dermatology and, on examination, was noted to meet the clinical diagnostic criteria for neurofibromatosis type 1. Laboratory investigations revealed hypernatraemia and elevated serum osmolality, accompanied by reduced urinary osmolality. Read More

    Combined endoscopic approach in the management of suprasellar craniopharyngioma.
    Childs Nerv Syst 2018 Feb 12. Epub 2018 Feb 12.
    Department of Neurosurgery, Bombay Hospital Institute Of Medical Sciences (BHIMS), Room No. 114, 1st Floor, MRC Building, 12, New Marine Lines, Mumbai, 400020, India.
    Introduction: Craniopharyngiomas are dysontogenic tumors with benign histology but aggressive behavior. The surgical challenges posed by the tumor are well recognized. Neuroendoscopy has recently contributed to its surgical management. Read More

    Relation between change in treatment for central diabetes insipidus and body weight loss.
    Minerva Endocrinol 2018 Feb 8. Epub 2018 Feb 8.
    Department of Endocrinology and Metabolism, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.
    Backgound: Patients with central diabetes insipidus (CDI) are known to lose weight because their polydipsia interferes with their nutritional intake. We retrospectively examined weight changes in CDI patients when they switched from nasal to oral desmopressin.

    Methods: Twenty-three patients with CDI were included. Read More

    [Clinical observation of 5 cases of diabetes insipidus complicated with skeletal fluorosis].
    Zhongguo Gu Shang 2017 Jul;30(7):651-655
    Department of Spinal Surgery, Hebei Province Cangzhou Hospital of Integrated Traditional and Western Medicine, Cangzhou 061001, Hebei, China.
    Objective: To investigate the mechanism of diabetes insipidus complicated with skeletal fluorosis and the surgical treatment of spinal canal stenosis caused by skeletal fluorosis.

    Methods: From January 2000 to November 2011, 5 patients with diabetes insipidus complicated with skeletal fluorosis were treated with drug and cervical or thoracic posterior decompression including 2 males and 3 females with age of 35, 45, 47, 49, 55 years old respectively. The symptoms was mainly limb motor sensory disturbance accompanied by polyuria and polyuria. Read More

    Copeptin levels and commonly used laboratory parameters in hospitalised patients with severe hypernatraemia - the "Co-MED study".
    Crit Care 2018 Feb 9;22(1):33. Epub 2018 Feb 9.
    Department of Endocrinology, Diabetology and Metabolism, University Hospital Basel, Petersgraben 4, 4031, Basel, Switzerland.
    Background: Hypernatraemia is common in inpatients and is associated with substantial morbidity. Its differential diagnosis is challenging, and delayed treatment may have devastating consequences. The most important hormone for the regulation of water homeostasis is arginine vasopressin, and copeptin, the C-terminal portion of the precursor peptide of arginine vasopressin, might be a reliable new parameter with which to assess the underlying cause of hypernatraemia. Read More

    Multidisciplinary approach in a case of Hand-Schüller-Christian disease with maxillary involvement.
    Spec Care Dentist 2018 Feb 8. Epub 2018 Feb 8.
    Department of Clinical and Experimental Medicine, University of Foggia, Foggia, Italy.
    Langerhans cell histiocytosis (LCH) is a childhood pathology with a peak of incidence ranging from 1 to 4 years of age, though diagnosis is often made in adult age. LCH is clinically classified into three types: eosinophilic granuloma, Hand-Schuller-Christian disease and Abt-Letterer-Siwe disease. We report a case of Hand-Schüller-Christian disease with diabetes insipidus, skull and maxillary involvement in a 16-year-old boy referred to our observation for gradual increase in mobility of the teeth and subsequent gradual loss of the second premolars and the first molars of the upper jaw. Read More

    Clinical outcomes of endoscopic versus microscopic trans-sphenoidal surgery for large pituitary adenoma.
    Br J Neurosurg 2018 Feb 8:1-4. Epub 2018 Feb 8.
    a Endocrine Research Center , Institute of Endocrinology and Metabolism, Iran University of Medical Sciences , Tehran , Iran.
    Objective: To compare clinical outcomes of large pituitary adenomas (≥3 cm in maximum diameter), operated on by Endoscopic Transsphenoidal Surgery (ETS), versus Microscopic Transsphenoidal Surgery (MTS).

    Methods: Medical records and MRI Scans of patients with a diagnosis of pituitary adenoma for whom transphenoidal surgery was done were reviewed. Complete pre and post-operative data were available for 121 patients. Read More

    Cortisol evaluation during the acute phase of traumatic brain injury - a prospective study.
    Clin Endocrinol (Oxf) 2018 Feb 5. Epub 2018 Feb 5.
    Endocrinology unit, Central Hospital of Army Algiers, Algeria.
    Background: Biochemical diagnosis of adrenal insufficiency (AI) is difficult in the context of traumatic brain injury (TBI) AIM: to assess the frequency and predictive factors of AI in victims of TBI from Algiers.

    Methods: Between November 2009 and December 2013, TBI victims had a single 8-9 a.m. Read More

    One-piece Orbitozygomatic Craniotomy for Resection of Rathke's Cleft Cyst: Operative Video.
    J Neurol Surg B Skull Base 2018 Feb 11;79(2):S211-S212. Epub 2018 Jan 11.
    Department of Neurosurgery, Louisiana State University Health Sciences Center, Shreveport, Louisiana, United States.
     The video stars orbitozygomatic resection of Rathke's cleft cyst with suprasellar extension in a 37-year-old male patient presenting with severe headaches and bitemporal hemianopia. Clinical and radiological characteristics along with surgical technique (positioning, bony opening, surgical dissection and debulking, closure), histopathology, and postoperative course are described. Preoperative MRI demonstrated a noncontrast-enhancing cystic lesion in the sella with suprasellar extension causing compression of both optic nerves. Read More

    Endoscopic Transsphenoidal Resection of Craniopharyngioma.
    J Neurol Surg B Skull Base 2018 Feb 16;79(2):S203-S204. Epub 2018 Jan 16.
    Neurosurgery Division, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.
     To demonstrate, step-by-step, the technique and efficacy of endoscopic transsphenoidal approach in resection of a suprasellar craniopharyngioma. The video shows a step-by-step approach to the resection, covering the exposure, access, resection, and confirmation of resection and reconstruction. The surgery was performed in the University of Malaya Medical Centre, a tertiary referral center in the capital of Malaysia. Read More

    Endoscopic Endonasal Resection of Retrochiasmatic Craniopharyngioma with Fascia Lata Button and Nasoseptal Flap Reconstruction.
    J Neurol Surg B Skull Base 2018 Feb 9;79(2):S191-S193. Epub 2018 Jan 9.
    Department of Neurological Surgery, Thomas Jefferson University, Philadelphia, Pennsylvania, United States.
    Surgery for craniopharyngiomas can be challenging due to the involvement of multiple critical neurovascular structures. The expanded endoscopic endonasal approach can provide superior access to suprasellar craniopharyngiomas, particularly with retrochiasmatic extension and significant hypothalamic involvement. We describe the surgical technique used to treat a 30-year-old patient who presented with 4 weeks of worsening vision, fatigue, and memory loss. Read More

    Pediatric Pituitary Adenoma: Case Series, Review of the Literature, and a Skull Base Treatment Paradigm.
    J Neurol Surg B Skull Base 2018 Feb 24;79(1):91-114. Epub 2018 Jan 24.
    Department of Neurologic Surgery, Mayo Clinic, Rochester Minnesota, United States.
     Pediatric pituitary adenoma is a rare skull base neoplasm, accounting for 3% of all intracranial neoplasms in children and 5% of pituitary adenomas. Compared with pituitary tumors in adults, secreting tumors predominate and longer disease trajectories are expected due to the patient age resulting in a natural history and treatment paradigm that is complex and controversial. The aims of this study were to describe a large, single-institution series of pediatric pituitary adenomas with extensive long-term follow-up and to conduct a systematic review examining outcomes after pituitary adenoma surgery in the pediatric population. Read More

    Postoperative Diabetes Insipidus and Hyponatremia in Children after Transsphenoidal Surgery for Adrenocorticotropin Hormone and Growth Hormone Secreting Adenomas.
    J Pediatr 2018 Jan 30. Epub 2018 Jan 30.
    Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health, Bethesda, MD. Electronic address:
    Objectives: To define the incidence and risk factors of postoperative sodium alterations in pediatric patients undergoing transsphenoidal surgery (TSS) for adrenocorticotropic hormone and growth hormone secreting pituitary adenomas.

    Study Design: We retrospectively reviewed 160 patients ≤18 years of age who had TSS for pituitary adenomas at our institution from 1999 to 2017. Variables included daily serum sodium through postoperative day 10, urine specific gravity, and medications administered. Read More

    Contiguous 22.1-kb deletion embracing AVPR2 and ARHGAP4 genes at novel breakpoints leads to nephrogenic diabetes insipidus in a Chinese pedigree.
    BMC Nephrol 2018 02 2;19(1):26. Epub 2018 Feb 2.
    Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University, 1 Jianshe Road East, Zhengzhou, Henan, 450052, China.
    Background: It has been reported that mutations in arginine vasopressin type 2 receptor (AVPR2) cause congenital X-linked nephrogenic diabetes insipidus (NDI). However, only a few cases of AVPR2 deletion have been documented in China.

    Methods: An NDI pedigree was included in this study, including the proband and his mother. Read More

    Xanthoma Disseminatum Presenting with Hoarseness.
    Iran J Otorhinolaryngol 2017 Nov;29(95):365-368
    Department of Pathology, JIPMER, Puducherry, India.
    Introduction: Xanthoma disseminatum (XD) is a rare, benign, non-Langerhans cell histiocytic disorder with unknown etio-pathology. It manifests with multiple, grouped, red-brown to yellow papules and nodules involving the skin, mucous membranes, and internal organs with a predilection for flexures and the face.

    Case Report: We report a patient who presented with disseminated xanthomatous papules and nodules involving the face, neck, trunk, axilla, groin, and oral cavity, along with hoarseness of voice. Read More

    The clinical course and pathophysiological investigation of adolescent gestational diabetes insipidus: a case report.
    BMC Endocr Disord 2018 Jan 30;18(1). Epub 2018 Jan 30.
    Department of Metabolic Medicine, Faculty of Life Sciences, Kumamoto University, 1-1-1 Chuo-Ward, Honjo, Kumamoto, 860-8556, Japan.
    Background: Gestational diabetes insipidus (GDI) is a rare endocrine complication during pregnancy that is associated with vasopressinase overproduction from the placenta. Although increased vasopressinase is associated with placental volume, the regulation of placental growth in the later stage of pregnancy is not well known.

    Case Presentation: A 16-year-old pregnant woman was urgently transferred to our hospital because of threatened premature labor when the Kumamoto earthquakes hit the area where she lived. Read More

    Critical role of rabphilin-3A in the pathophysiology of experimental lymphocytic neurohypophysitis.
    J Pathol 2018 Jan 29. Epub 2018 Jan 29.
    Division of Endocrinology and Metabolism, Department of Internal Medicine, Fujita Health University, Toyoake, 470-1192, Japan.
    Autoimmune hypophysitis (AH) is thought to be an autoimmune disease characterized by lymphocytic infiltration of the pituitary gland. Among AH pathologies, lymphocytic infundibulo-neurohypophysitis (LINH) represents infiltration of the neurohypophysis and/or the hypothalamic infundibulum, causing central diabetes insipidus due to insufficiency of arginine vasopressin (AVP) secretion. The pathophysiological and pathogenetic mechanisms underlying LINH are largely unknown. Read More

    Desmopressin and nocturnal voiding dysfunction: Clinical evidence and safety profile in the treatment of nocturia.
    Expert Opin Pharmacother 2018 Feb 29;19(3):291-298. Epub 2018 Jan 29.
    a Department of Urology , University of Queensland, Princess Alexandra Hospital , Brisbane , Australia.
    Introduction: Nocturia is a common urinary condition experienced by both men and women. While desmopressin has historically been utilized to treat conditions such as central diabetes insipidus and primary nocturnal enuresis, there is an increased interest in the use of desmopressin in the management of adult nocturia. Areas covered: This article provides a review on the pathophysiology of nocturia and the clinical outcomes and safety profile of desmopressin in the management of adult nocturnal voiding dysfunction. Read More

    Cullin-associated NEDD8-dissociated protein 1, a novel interactor of rabphilin-3A, deubiquitylates rabphilin-3A and regulates arginine vasopressin secretion in PC12 cells.
    Endocr J 2018 Jan 23. Epub 2018 Jan 23.
    Division of Endocrinology and Metabolism, Department of Internal Medicine, Fujita Health University, Toyoake, Aichi 470-1192 Japan.
    The molecular mechanism involved in the exocytosis of arginine vasopressin (AVP) is not fully known. Rabphilin-3A has been suggested as a novel autoantigen in infundibulo-neurohypophysitis (LINH), which leads to central diabetes insipidus through insufficient secretion of AVP. However, the role of rabphilin-3A in the pathogenesis of LINH remains unclear. Read More

    Pituitary xanthogranulomas: clinical features, radiological appearances and post-operative outcomes.
    Pituitary 2018 Jan 23. Epub 2018 Jan 23.
    B4 Office, Department of Neurosurgery, University Hospital of Wales, Cardiff, CF 14 4XW, UK.
    Background: Xanthogranulomas are inflammatory masses most commonly found at peripheral sites such as the skin. Sellar and parasellar xanthogranulomas are rare and present a diagnostic challenge as they are difficult to differentiate from other sellar lesions such as craniopharyngiomas and Rathke's cleft cysts pre-operatively. Their radiological imaging features are yet to be clearly defined, and clinical outcomes after surgery are also uncertain. Read More

    Tamoxifen attenuates development of lithium-induced nephrogenic diabetes insipidus in rats.
    Am J Physiol Renal Physiol 2018 Jan 10. Epub 2018 Jan 10.
    Department of Clinical Medicine, Aarhus University, Denmark.
    Lithium is widely used in treatment of bipolar affective disorders, but often causes nephrogenic diabetes insipidus (NDI), a disorder characterized by severe urinary concentrating defects. Lithium-induced NDI is caused by lithium uptake by collecting duct principal cells and altered expression of aquaporin-2 (AQP2), which are essential for water reabsorption of tubular fluid in the collecting duct. Sex hormones have previously been shown to affect the regulation of AQP2, so we tested whether tamoxifen (TAM), a selective estrogen receptor modulator, would attenuate lithium-induced alterations on renal water homeostasis. Read More

    [Clinical features and prognosis of 18 cases of primary lymphocytic hypophysitis].
    Zhonghua Yi Xue Za Zhi 2018 Jan;98(2):102-108
    Department of Endocrinology, Chinese PLA General Hospital, Beijing 100853, China.
    To analyze clinical features, prognosis and treatment of lymphocytic hypophysitis (LYH).The clinical data, treatments and outcomes of 18 cases diagnosed as LYH at Chinese PLA General Hospital between January 2001 and July 2017 was respectively reviewed.Eighteen patients with histology-proven LYH (13 females and 5 males ) were identified. Read More

    [Treatment with sublingual desmopressin in two infants with hydranencephaly and central diabetes insipidus].
    Arch Argent Pediatr 2018 Feb;116(1):e93-e97
    Servicio de Clínica Pediátrica, Hospital Materno Infantil "Héctor Quintana", Jujuy, Argentina.
    Central diabetes insipidus is a rare disease in children caused by a deficiency of vasopressin. Its main clinical manifestations are polyuria and polydipsia. Brain malformations are one of the main causes. Read More

    Lithium: one drug, five complications.
    J Intensive Care 2017 20;5:70. Epub 2017 Dec 20.
    Pierre-Yves Delannoy, Intensive Care Unit, Hôpital Chatiliez, 155 rue du Président Coty, BP 619, 59208 Tourcoing cedex, France.
    Background: Lithium poisoning could trigger multiple complications. We report the case of a lithium poisoning with five complications that are described for the first time together.

    Case Report: A 60-year-old woman was admitted in our intensive care unit for altered consciousness. Read More

    Presentation and outcomes in surgically and conservatively managed pediatric Rathke cleft cysts.
    J Neurosurg Pediatr 2017 Dec 22:1-7. Epub 2017 Dec 22.
    Departments of 1 Neurosurgery and.
    OBJECTIVE Rathke cleft cysts (RCCs) are sellar lesions that are commonly encountered in adults but infrequently diagnosed in the pediatric population. As a result, the optimal management of pediatric RCCs remains a subject of controversy. Only 2 prior surgical series have been published on pediatric RCCs and no study has compared the presentation and outcomes of surgically versus conservatively managed cases. Read More

    Multiple fractures and impaired bone metabolism in Wolfram syndrome: a case report.
    Clin Cases Miner Bone Metab 2017 May-Aug;14(2):254-257. Epub 2017 Oct 25.
    Department of Clinical and Experimental Medicine, University Hospital of Messina, Messina, Italy.
    Wolfram Syndrome (WS) is a rare and lethal disease characterized by optic atrophy, diabetes mellitus, diabetes insipidus, and hearing loss. To date, osteoporotic related fractures have not been reported in affected patients. Here, we describe the case of a man affected by WS complicated by several bone fragility fractures. Read More

    Metabolomics of the Wolfram Syndrome 1 Gene (Wfs1) Deficient Mice.
    OMICS 2017 Dec;21(12):721-732
    1 Department of Biochemistry, Institute of Biomedicine and Translational Medicine, University of Tartu , Tartu, Estonia .
    Wolfram syndrome 1 is a rare autosomal recessive neurodegenerative disease characterized by diabetes insipidus, diabetes mellitus, optic atrophy, and deafness. Mutations in the WFS1 gene encoding the wolframin glycoprotein can lead to endoplasmic reticulum stress and unfolded protein responses in cells, but the pathophysiology at whole organism level is poorly understood. In this study, several organs (heart, liver, kidneys, and pancreas) and bodily fluids (trunk blood and urine) of 2- and 6-month old Wfs1 knockout (KO), heterozygote (HZ), and wild-type (WT) mice were analyzed by untargeted and targeted metabolomics using liquid chromatography-mass spectrometry. Read More

    Rapid differential diagnosis of diabetes insipidus in a 7-month-old infant: The copeptin approach.
    Arch Pediatr 2018 Jan 11;25(1):45-47. Epub 2017 Dec 11.
    CNRS, CRN2M UMR 7286, service de pédiatrie multidisciplinaire, hôpital Timone-Enfants, Aix-Marseille université, Assistance publique-Hôpitaux de Marseille, 13385 Marseille, France.
    Introduction: Diabetes insipidus is characterized by hypoosmotic polyuria related to deficiency of arginine-vasopressin (AVP) secretion (central diabetes insipidus, CDI) or renal insensitivity to AVP (nephrogenic diabetes insipidus, NDI). The water deprivation test with assessment of AVP activity is currently the gold standard for differential diagnosis in patients presenting polyuria-polydipsia syndrome. Nevertheless, it can be dangerous without proper surveillance and its interpretation may be challenging. Read More

    GRHL2 Is Required for Collecting Duct Epithelial Barrier Function and Renal Osmoregulation.
    J Am Soc Nephrol 2017 Dec 13. Epub 2017 Dec 13.
    Max Delbrück Center for Molecular Medicine in the Helmholtz Association, Berlin, Germany;
    Collecting ducts make up the distal-most tubular segments of the kidney, extending from the cortex, where they connect to the nephron proper, into the medulla, where they release urine into the renal pelvis. During water deprivation, body water preservation is ensured by the selective transepithelial reabsorption of water into the hypertonic medullary interstitium mediated by collecting ducts. The collecting duct epithelium forms tight junctions composed of barrier-enforcing claudins and exhibits a higher transepithelial resistance than other segments of the renal tubule exhibit. Read More

    Cerebral germinoma revealed through a polydipsic polyuric syndrome in a 10-year-old girl: case report.
    Endocr Regul 2017 10;51(4):216-219
    Department of Endocrinology, Mouscron Hospital Centre, Mouscron, Belgium
    Cerebral germinoma is rare. Although the imaging of the germinoma is very evocative, it's very polymorphic clinical expression is at the origin of misguided diagnosis, as illustrated in our case. We report the case of a 10-year-old girl with diabetes insipidus evolving for 12 months associated with a decrease in visual acuity. Read More

    Delayed Occurrence of Diabetes Insipidus After Transsphenoidal Surgery with Radiologic Evaluation of the Pituitary Stalk on Magnetic Resonance Imaging.
    World Neurosurg 2018 Feb 9;110:e1072-e1077. Epub 2017 Dec 9.
    Department of Neurosurgery, Graduate School of Medical Science, Kanazawa University, Kanazawa, Japan.
    Background: Diabetes insipidus (DI) is a major complication of transsphenoidal surgery (TSS). DI usually occurs within a couple of days after TSS. Delayed occurrence of postoperative DI is rarely observed and its developing mechanisms remain unknown. Read More

    Anti-PD-L1 Treatment Induced Central Diabetes Insipidus.
    J Clin Endocrinol Metab 2018 Feb;103(2):365-369
    Dermatology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland.
    Context: Immune checkpoint inhibitors, including anti-programmed cell death protein 1 (PD-1), anti-programmed cell death protein ligand 1 (PD-L1), and anti-cytotoxic T-lymphocyte antigen 4 (anti-CTLA4) monoclonal antibodies, have been widely used in cancer treatment. They are known to cause immune-related adverse events (irAEs), which resemble autoimmune diseases. Anterior pituitary hypophysitis with secondary hypopituitarism is a frequently reported irAE, especially in patients receiving anti-CTLA4 treatment. Read More

    Latent autoimmune diabetes of adulthood: case report.
    Clin Diabetes Endocrinol 2017 28;3:11. Epub 2017 Nov 28.
    University of North Carolina (UNC) Family Medicine, 590 Manning Drive, CB#7595, Chapel Hill, NC 27514 USA.
    Background: Primary care clinicians will see a higher incidence of type 2 diabetes in adult patients, and the diagnosis and management of an initial presentation of type 1 diabetes can pose challenges to clinicians who see it less frequently. Symptoms of hyperglycemia and risk of ketoacidosis may be missed. Further, endocrine autoimmune disease can run together in patients and families. Read More

    Adult leukoencephalopathies with prominent infratentorial involvement can be caused by Erdheim-Chester disease.
    J Neurol 2018 Feb 4;265(2):273-284. Epub 2017 Dec 4.
    Unit of Neurodegerative and Neurometabolic Rare Diseases, IRCCS Foundation "Carlo Besta" Neurological Institute, Milan, Italy.
    Background: Leukoencephalopathies with prominent involvement of cerebellum and brainstem, henceforward called prominent infratentorial leukoencephalopathies (PILs), encompass a variety of inherited and acquired white matter diseases. Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocytosis likely under-diagnosed as cause of adult PIL.

    Methods: We reviewed the clinical and laboratory information of ten consecutive sporadic adult patients with PIL of unknown origin, who were investigated for ECD. Read More

    Factors Associated with Postoperative Diabetes Insipidus after Pituitary Surgery.
    Endocrinol Metab (Seoul) 2017 Dec 21;32(4):426-433. Epub 2017 Nov 21.
    Section of Endocrinology, Diabetes and Metabolism, Department of Medicine, Philippine General Hospital, University of the Philippines, Manila, Philippines.
    Background: Determining risk factors for diabetes insipidus (DI) after pituitary surgery is important in improving patient care. Our objective is to determine the factors associated with DI after pituitary surgery.

    Methods: We reviewed records of patients who underwent pituitary surgery from 2011 to 2015 at Philippine General Hospital. Read More

    Endocrine and metabolic assessment in adults with Langerhans cell histiocytosis.
    Eur J Intern Med 2017 Nov 29. Epub 2017 Nov 29.
    U.O. di Endocrinologia, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Dipartimento di Scienze Cliniche e di Comunità, Università di Milano, Milan, Italy.
    Context: Diabetes insipidus (DI) is one of most common complications of Langerhans cell histiocytosis (LCH) but prevalence of anterior pituitary deficiencies and metabolic alterations have not been clearly defined yet.

    Objectives: Evaluate prevalence of endocrine and metabolic manifestations in a cohort of patients affected by Pulmonary LCH.

    Methods: Observational cross-sectional study on 18 adults (7 M/11 F, 42±12years) studied for complete basal and dynamic endocrine lab tests and glucose metabolism. Read More

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