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Am J Med Genet A 2019 Apr 22. Epub 2019 Apr 22.

Division of Newborn Medicine, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, United States.

Char syndrome is characterized by persistent patent ductus arteriosus (PDA) associated with hand-skeletal abnormalities and distinctive facial dysmorphism. Pathogenic variants in the transcription factor gene TFAP2B have been shown to cause Char syndrome; however, there is significant phenotypic variability linked to variant location. Here, we report a pediatric patient with a novel de novo variant in the fifth exon of TFAP2B, c. Read More

World J Gastroenterol 2019 Apr;25(14):1741-1752

Department of Endocrinology, Key Laboratory of Endocrinology of National Health Commission of the People's Republic of China, The Translational Medicine Center of Peking Union Medical College Hospital, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China.

Background: Patients with hypothalamic-pituitary disease have the feature of central obesity, insulin resistance, and dyslipidemia, and there is increased prevalence of liver dysfunction consistent with non-alcoholic fatty liver disease (NAFLD) in this population. The causes of hypopituitarism in the reported studies varied and combined pituitary hormone deficiency including central diabetes insipidus is much common in this population. This retrospective cross-sectional study was performed to analyze the clinical characteristics and related factors with NAFLD and cirrhosis in Chinese adult hypopituitary/panhypopituitary patients. Read More

J Endocr Soc 2019 May 18;3(5):882-886. Epub 2019 Mar 18.

Division of Endocrinology, Diabetes and Metabolism, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin.

Management of diabetes insipidus (DI) is usually facilitated by an intact thirst mechanism prompting water ingestion in times of rising osmolality. Maintenance of eunatremia can be quite difficult in patients with DI and adipsia because of the absence of this homeostatic mechanism. Few published protocols for management of these complex cases exist. Read More

Ther Adv Psychopharmacol 2019 4;9:2045125319836563. Epub 2019 Apr 4.

Department of Clinical Sciences, Division of Psychiatry, Sunderby Research Unit, Umeå University, Umeå, Sweden.

Background: Hypernatraemia is a serious condition that can potentially become life threatening. It is known that lithium is associated with polyuria and nephrogenic diabetes insipidus, risk factors for hypernatraemia. In this study, we tested the hypothesis that lithium treatment was a risk factor for hypernatraemia. Read More

Clin Endocrinol (Oxf) 2019 Apr 20. Epub 2019 Apr 20.

Departments of Endocrinology, Diabetology and Metabolism University Hospital Basel, Switzerland.

Copeptin is secreted in an equimolar amount to arginine vasopressin (AVP) but can easily be measured in plasma or serum with a sandwich immunoassay. The main stimuli for copeptin are similar to AVP, i.e. Read More

Geburtshilfe Frauenheilkd 2019 Apr 6;79(4):365-374. Epub 2019 Mar 6.

Medizinische Klinik und Poliklinik IV, Klinikum der Universität München, München, Germany.

The diagnosis and treatment of pituitary disease in pregnancy represents a special clinical challenge. Not least because there is very little data on the treatment of pregnant patients with pituitary disorders. A selective search of the literature was carried out with the aim of compiling evidence about the diagnosis and treatment of pituitary disease in pregnancy. Read More

World Neurosurg 2019 Apr 14. Epub 2019 Apr 14.

Department of Neurosurgery, the First Affiliated Hospital of Fujian Medical University, Fuzhou, People's Republic of China.

Background: Chondrosarcoma is a malignant tumor that originates from mesenchymal cells that have differentiated into chondrocytes, often growing laterally, rarely seen in the cranium, and seldom seen in the saddle area. We believe that only a few cases have been reported in the literature. We report a case of pituitary fossa chondrosarcoma, which was completely resected by an extended endoscopic endonasal approach, and a literature review. Read More

Endocr Pract 2019 Apr;25(4):340-352

To describe outcomes of patients with giant prolactinoma (≥4 cm) and identify predictors of therapeutic response. In this retrospective study, complete biochemical and structural response were defined as prolactin (PRL) ≤25 ng/mL and no visible tumor at follow-up, respectively. Giant prolactinoma (median size, 4. Read More

J Am Soc Nephrol 2019 Apr 15. Epub 2019 Apr 15.

Max Delbrück Center for Molecular Medicine Berlin, (MDC), Research area Cardiovascular & Metabolic Disease, Berlin, Germany;

Background: Arginine-vasopressin (AVP) binding to vasopressin V2 receptors promotes redistribution of the water channel aquaporin-2 (AQP2) from intracellular vesicles into the plasma membrane of renal collecting duct principal cells. This pathway fine-tunes renal water reabsorption and urinary concentration, and its perturbation is associated with diabetes insipidus. Previously, we identified the antimycotic drug fluconazole as a potential modulator of AQP2 localization. Read More

AACE Clin Case Rep 2018 Nov-Dec;4(6):e487-e492

Northwestern University Feinberg School of Medicine, Division of Endocrinology, Metabolism, and Molecular Medicine, Chicago, Illinois.

Objective: Central diabetes insipidus can occur in the setting of primary or metastatic tumors that disrupt the hypothalamic-pituitary axis. Usual treatment consists of water intake to replace ongoing fluid losses and desmopressin administration aimed at decreasing the urine output to enable maintenance of eunatremia without polyuria. Marked derangement in plasma sodium concentration can occur when high-volume intravenous fluid administration is required during chemotherapy to prevent nephrotoxicity, particularly if obligate fluid intake exceeds the total daily fluid intake necessary to maintain eunatremia. Read More

Ann Hum Genet 2019 Apr 12. Epub 2019 Apr 12.

The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.

Four affected individuals of consanguineous kindred presented at infancy with an apparently autosomal recessive syndrome of polyuria and hypokalemic metabolic alkalosis, following maternal polyhydramnios and premature delivery, culminating in severe failure to thrive. Hypercalciuria, nephrocalcinosis, and hyperaldosteronism were further apparent as well as an unusual finding of intermittent hypernatremia. Additionally, all patients demonstrated variable micrognathia with upper respiratory airway abnormalities. Read More

Clin Kidney J 2019 Apr 13;12(2):180-187. Epub 2018 Apr 13.

Department of Pediatric Nephrology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.

Background: Inherited nephrogenic diabetes insipidus (NDI) is a rare disorder characterized by impaired urinary concentrating ability. Little clinical data on long-term outcome exists.

Method: This was a single-centre retrospective medical record review of patients with a diagnosis of NDI followed between 1985 and 2017. Read More

Ir J Psychol Med 2019 Apr 10:1-8. Epub 2019 Apr 10.

Department of Psychiatry, Trinity Centre for Health Sciences,Tallaght University Hospital,Dublin 24,Ireland.

Objectives: Lithium-treated patients with polyuria are at increased risk of lithium toxicity. We aimed to describe the clinical benefits and risks of different management strategies for polyuria in community lithium-treated patients.

Methods: This is a naturalistic, observational, prospective 12-month cohort study of lithium-treated patients with polyuria attending a community mental health service in Dublin, Ireland. Read More

Eur J Ophthalmol 2019 Apr 7:1120672119842489. Epub 2019 Apr 7.

2 Department of Ophthalmology, Sisli Hamidiye Etfal Training and Research Hospital, University of Health Sciences, Istanbul, Turkey.

Purpose: To evaluate the ophthalmic, systemic, and genetic characteristics of patients with Wolfram syndrome.

Methods: In total, 13 patients with suspected or clinically diagnosed Wolfram syndrome underwent ophthalmic and systemic examinations and genetic analyses for Wolfram syndrome between August and October 2018.

Results: The mean age of the subjects was 24. Read More

Neurosurg Rev 2019 Apr 4. Epub 2019 Apr 4.

Department of Neurosurgery, University of Ulm, Ludwig-Heilmeyerstr. 2, 89312, Günzburg, Germany.

The use of intraoperative MRI (iMRI) increases extent of resection in transsphenoidal pituitary surgery. Microsurgical and endoscopic techniques have been established as equal and standard surgical methods. The object of the current study was to evaluate the additional value of iMRI for resection of invasive pituitary adenomas. Read More

World Neurosurg 2019 Apr 1. Epub 2019 Apr 1.

Department of Neurosurgery, Mayo Clinic, Jacksonville, Florida. Electronic address:

Background: The optimal surgical strategy for management of adult patients with craniopharyngioma remains controversial.

Objective: To analyze the functional outcomes of adult patients with gross total resection (GTR) and subtotal resection (STR) of craniopharyngioma.

Methods: MEDLINE, EMBASE, Scopus, and Cochrane databases were searched from inception to July 19, 2018 for articles comparing post-operative endocrine function, vision, complications, and recurrence rates for adult patients with GTR and STR of craniopharyngioma. Read More

Endocrinol Diabetes Metab Case Rep 2019 Apr 3;2019. Epub 2019 Apr 3.

Department of Endocrinology, Peterborough City Hospital, Peterborough, UK.

IgG4-related disease (IgG4-RD) is an immune-mediated fibro-inflammatory condition which can affect various organs including the pituitary gland. The true annual incidence of this condition remains widely unknown. In addition, it is unclear whether IgG4 antibodies are causative or the end result of a trigger. Read More

Front Endocrinol (Lausanne) 2019 19;10:149. Epub 2019 Mar 19.

Department of Pediatrics, University Medical Center, Amiens, France.

The aim of this study was to evaluate the frequency of hypopituitarism following TBI in a cohort of children who had been hospitalized for mild TBI and to identify the predictive factors for this deficiency. A prospective study was conducted on children between 2 and 16 years of age who had been hospitalized for mild TBI according to the Glasgow Coma Scale between September 2009 and June 2013. Clinical parameters, basal pituitary hormone assessment at 0, 6, and 12 months, as well as a dynamic testing (insulin tolerance test) 12 months after TBI were performed. Read More

J Clin Psychopharmacol 2019 May/Jun;39(3):238-242

Department of Psychiatry, University Hospital Brno, Faculty of Medicine Masaryk University, Brno, Czech Republic.

Background: Lithium in the form of lithium carbonate (Li2CO3) has become one of the most effective and widely prescribed drugs for mood stabilization. However, lithium has adverse effects on renal tubular functions, such as decreased concentrating function of the kidneys, and even occasional symptoms of nephrogenous diabetes insipidus occur with additional evidence of glomerular disruption in lithium-treated patients.

Methods: We assessed the kidney function of patients with bipolar disorder who are under long-term lithium treatment using novel markers of kidney damage such as plasma neutrophil gelatinase-associated lipocalin, cystatin C, albuminuria, estimated glomerular filtration rate, Chronic Kidney Disease-Epidemiology Investigation using creatinine and cystatin C, and serum and urinary osmolality, and compared the results with those of age-matched patients with bipolar disorder not treated with lithium. Read More

Childs Nerv Syst 2019 Mar 30. Epub 2019 Mar 30.

Section of Neurosurgery, Department of Neurosciences, College of Medicine and Philippine General Hospital, University of the Philippines Manila, Taft Avenue, Ermita, 1000, Manila, Philippines.

Purpose: Hydranencephaly is a congenital condition characterized by the complete or near-complete absence of the cerebral cortex and basal ganglia, while central diabetes insipidus (CDI) is a condition characterized by the inability to concentrate urine due to a deficiency in antidiuretic hormone (ADH). CDI is known to occur in midline congenital malformations such as holoprosencephaly and septo-optic dysplasia, but its association with hydranencephaly is less well-established.

Methods: We reported two cases of hydranencephaly complicated by CDI. Read More

Pituitary 2019 Mar 29. Epub 2019 Mar 29.

Department of Laboratory Medicine, Division of Pathology, St Michael's Hospital, University of Toronto, Toronto, ON, Canada.

Purpose: Traumatic brain injury most commonly affects young adults under the age of 35 and frequently results in reduced quality of life, disability, and death. In long-term survivors, hypopituitarism is a common complication.

Results: Pituitary dysfunction occurs in approximately 20-40% of patients diagnosed with moderate and severe traumatic brain injury giving rise to growth hormone deficiency, hypogonadism, hypothyroidism, hypocortisolism, and central diabetes insipidus. Read More

Int J Surg Case Rep 2019 Mar 19;57:71-73. Epub 2019 Mar 19.

Department of Internal Medicine, Division of Nephrology and Hypertension, Henry Ford Hospital, Detroit, MI, USA.

Introduction: Nephrogenic diabetes insipidus occurs in patients on chronic lithium treatment even after lithium discontinuation. Patients affected by this disorder are highly vulnerable to hypernatremia when they cannot respond to their thirst mechanism. We report a rare case of hypernatremia due to undiagnosed nephrogenic diabetes insipidus post esophagectomy in a patient with remote history of lithium use. Read More

Br J Anaesth 2019 05 11;122(5):e73-e75. Epub 2019 Mar 11.

Tours, France.

Tanaffos 2018 Mar;17(3):172-176

Lung Transplantation Research Center (LTRC), National Research Institute of Tuberculosis and Lung Diseases (NRITLD), Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Background: When potential brain dead donors are in line-up for organ retrieval, their loss would be such a disaster. The aim of this study was to detect the occurrence of different disorders leading to pre-retrieval donor's cardiac arrest and loss in order to prevent this energy and money wasting challenge.

Materials And Methods: In this observational study, medical records of potential donors from 2001 to 2016 who were lost after transfer to Organ Procurement Unit (OPU) of Masih Daneshvari Hospital and before organ donation were reviewed and weigh of every responsible disorder was tested. Read More

Prenat Diagn 2019 Mar 22. Epub 2019 Mar 22.

Clinical Genetics Unit. Complejo Hospitalario Universitario Insular Materno Infantil de Canarias, Las Palmas de Gran Canaria, Spain.

Solitary Median Maxillary Central Incisor Syndrome (SMMCI) is a complex disorder consisting of multiple, developmental defects involving midline structures of the head which includes the cranial bones, the maxilla and its container dentition (specifically the central incisor tooth germ), together with other midline structures of the body. SMMCI may appear as an isolated trait or in association with other midline developmental anomalies. We describe the case of a patient with SMMCI. Read More

J Clin Endocrinol Metab 2019 Mar 20. Epub 2019 Mar 20.

Department of Endocrinology, Skåne University Hospital, Lund University, Malmö, Sweden.

Objective: To investigate the contemporary presentation of pituitary metastases.

Patients: Thirty-eight patients diagnosed with pituitary metastases 1996 to 2018 in Sweden.

Methods: Pituitary metastases were confirmed by histopathology (n = 27) or considered highly likely due to radiological findings, including rapid tumor progression (n = 11). Read More

J Clin Endocrinol Metab 2019 Mar 20. Epub 2019 Mar 20.

Department of Endocrinology, Key Laboratory of Endocrinology of National Health and Family Planning Commission, Peking Union Medical College Hospital, Chinese Academy of Medical Science & Peking Union Medical College, Beijing, China.

Objective: The etiologic diagnosis of pituitary stalk thickening (PST) remains a major challenge because biopsies of the pituitary stalk are difficult to obtain. This study summarized the etiologies of PST and the natural course of indistinguishable PST.

Methods: Patients with magnetic resonance imaging (MRI)-confirmed PST at Peking Union Medical College Hospital from January 2014 to May 2017 were reviewed. Read More

JAAD Case Rep 2019 Mar 2;5(3):255-257. Epub 2019 Mar 2.

Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, Pennsylvania.

Prog Transplant 2019 Mar 18:1526924819835829. Epub 2019 Mar 18.

1 Department of General Surgery, Chi Mei Hospital, Tainan, Taiwan.

J Clin Endocrinol Metab 2019 Mar 18. Epub 2019 Mar 18.

Neuroendocrine Unit, Massachusetts General Hospital and Department of Medicine, Harvard Medical School, Boston, MA, USA.

Context: xytocin (OT) and vasopressin share anatomical pathways of synthesis and secretion, and patients with central diabetes insipidus (CDI) are presumably at risk for OT deficiency. However, an oxytocin-deficient state in hypopituitary patients has not been established.

Objectives: We hypothesized that in men with CDI compared to (1) patients with similar anterior pituitary deficiencies but no CDI (APD) and (2) healthy controls (HC) of similar age and BMI, plasma OT levels would be lower and associated with increased psychopathology. Read More

Endocrinol Diabetes Metab Case Rep 2019 Mar 15;2019. Epub 2019 Mar 15.

Department of Internal Medicine F, Soroka University Medical Center, Beer Sheva, Israel.

A previously healthy 24-year-old female underwent an emergent caesarean section without a major bleeding described. During the first post-operative days (POD) she complained of fatigue, headache and a failure to lactate with no specific and conclusive findings on head CT. On the following days, fever rose with a suspicion of an obstetric surgery-related infection, again with no evidence to support the diagnosis. Read More

Endocr Pract 2019 Mar 13. Epub 2019 Mar 13.

From: 1Department of Endocrine and Metabolic Diseases, Rui-jin Hospital, Shanghai Jiao-tong University School of Medicine, Shanghai Institute of Endocrine and Metabolic Diseases, Shanghai Clinical Center for Endocrine and Metabolic Diseases, Shanghai, China. 200025.

Objective: To summarize the characteristics of patients with pituitary stalk thickening, analyze the association between pituitary stalk width and hypopituitarism, and develop a diagnostic model to differentiate neoplastic and inflammatory origins.

Methods: 325 patients with pituitary stalk thickening in a tertiary teaching hospital between January 2012 and February 2018 were enrolled. Basic characteristics and hormonal status were evaluated. Read More

Arch Endocrinol Metab 2019 Feb;63(1):47-52

Saglik Bilimleri University, Ankara Numune Education and Research Hospital Department of Endocrinology and Metabolism, Ankara, Turkey.

Objective: The inflammation of the pituitary gland is known as hypophysitis. It is a rare disease accounting for approximately 0.24%-0. Read More

Rev Endocr Metab Disord 2019 Mar 12. Epub 2019 Mar 12.

Department of Endocrinology, Bellvitge University Hospital, Carrer de la Feixa Llarga, s/n, 08907 L'Hospitalet de Llobregat, Barcelona, Spain.

In 2017, the World Health Organization established that pituicytoma, granular cell tumor (GCT), spindle cell oncocytoma (SCO) and sellar ependymomas (SE) are posterior pituitary tumors (PPT). They probably arise from the pituicytes and may constitute a unique histopathological entity. We carried out a systematic review using PubMed's database. Read More

J Dermatol 2019 Mar 12. Epub 2019 Mar 12.

Department of Dermatology, Keio University School of Medicine, Tokyo, Japan.

Rev Med Chil 2018 Dec;146(12):1486-1492

Servicio de Medicina, Hospital Naval A. Nef., Viña del Mar, Chile.

We report a 23 year old woman presenting with a nephrotic syndrome due to minimal change disease, central diabetes insipidus, primary hypothyroidism, vitiligo and universal alopecia. Eleven years later, she presented secondary amenorrhea due to hypogonadotropic hypogonadism, with mild hyperprolactinemia and central adrenal insufficiency. A magnetic resonance imaging of the sella turcica showed a pituitary mass with suprasellar extension that was resected using a transsphenoidal approach. Read More

Pituitary 2019 Apr;22(2):146-155

Department of Neurosurgery, Graduate School of Medical Science, Kanazawa University, 13-1, Takara-machi, Kanazawa, Ishikawa, 920-8641, Japan.

Introduction: Hypophysial and hypothalamic dysfunction caused by craniopharyngioma is a serious problem despite the progress of surgical approaches and techniques. Perifocal edema induced by craniopharyngioma could be speculated as a potential factor resulting in pre- and post-operative hypophysial and hypothalamic dysfunction, as well as, their anatomical involvement.

Methods: Medical records of 54 patients with craniopharyngioma were retrospectively reviewed. Read More

Int J Environ Res Public Health 2019 Mar 4;16(5). Epub 2019 Mar 4.

Department of Obstetrics and Gynecology, Medical School, University of Crete, 71110 Heraklion, Crete, Greece.

Pregnancy in women with associated endocrine conditions is a therapeutic challenge for clinicians. These disorders may be common, such us thyroid disorders and diabetes, or rare, including adrenal and parathyroid disease and pituitary dysfunction. With the development of assisted reproductive techniques, the number of pregnancies with these conditions has increased. Read More

BMJ 2019 Feb 28;364:l321. Epub 2019 Feb 28.

Department of Endocrinology, Oxford University Hospital NHS Foundation Trust, Oxford, UK.

J Clin Endocrinol Metab 2019 Feb 27. Epub 2019 Feb 27.

Depts. of Biochemistry, Otolaryngology, Ophthalmology, and Neuroscience, West Virginia University School of Medicine, Morgantown, West Virginia, USA.

Context: The transcription factor RAX is a paired-type homeoprotein that plays a critical role in eye and forebrain development of vertebrate species. RAX knockout mice have anophthalmia, cleft palate, abnormal hypothalamus, and display perinatal lethality. In humans, homozygous or compound heterozygous RAX mutations are reported to cause bilateral micro/anophthalmia without consistent associated features. Read More

F1000Res 2019 4;8. Epub 2019 Feb 4.

Department of Biosciences, Biotechnologies and Biopharmaceutics, University of Bari, Bari, Italy, 70125, Italy.

The alteration of water balance and related disorders has emerged as being strictly linked to the state of activation of the vasopressin-aquaporin-2 (vasopressin-AQP2) pathway. The lack of responsiveness of the kidney to the vasopressin action impairs its ability to concentrate the urine, resulting in polyuria, polydipsia, and risk of severe dehydration for patients. Conversely, non-osmotic release of vasopressin is associated with an increase in water permeability in the renal collecting duct, producing water retention and increasing the circulatory blood volume. Read More

Cent Eur J Immunol 2018 31;43(4):428-433. Epub 2018 Dec 31.

Department of Endocrinology, Metabolism and Internal Medicine, Poznań University of Medical Sciences, Poznań, Poland.

Diabetes insipidus is a disorder resulting from insufficient action of vasopressin (ADH) characterized by excretion of highly diluted urine in large amounts. Idiopathic diabetes insipidus is associated with the presence of both autoantibodies against ADH-secreting neurons and pituitary autoantibodies. The aim of the present study was to evaluate the occurrence of autoantibodies against the pituitary microsomal fraction. Read More

J Neurosurg 2019 Feb 22:1-11. Epub 2019 Feb 22.

OBJECTIVEFrailty, a state of decreased physiological reserve, has been shown to significantly impact outcomes of surgery. The authors sought to examine the impact of frailty on the short-term outcomes of patients undergoing transsphenoidal pituitary surgery.METHODSWeighted data from the 2000-2014 National (Nationwide) Inpatient Sample were studied. Read More

World Neurosurg 2019 Feb 18. Epub 2019 Feb 18.

Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, Beijing 100070, People's Republic of China. Electronic address:

Objective: Lymphocytic hypophysitis (LYH）is a rare autoimmune inflammatory disease of the pituitary gland. In the study, we aim to characterize LYH at presentation and focus on the management and prognosis of LYH.

Methods: The retrospective study of patients with LYH was conducted between 2011 and 2018 at a single institute. Read More

HNO 2019 Apr;67(4):307-318

Klinik für Neurochirurgie, Universität Ulm, Albert-Einstein-Allee 23, 89075, Ulm, Deutschland.

Pituitary adenomas are among the most common primary brain tumors. These tumors can produce all hormones of the anterior pituitary and thus cause endocrine diseases. Compression of the pituitary gland, the surrounding cranial nerves, or brain structures can lead to hypopituitarism, cranial nerve deficits, or diverse neurological symptoms. Read More

Crit Care Clin 2019 Apr 24;35(2):389-405. Epub 2019 Jan 24.

Department of Intensive Care, Austin Hospital, Melbourne, 145 Studley Road, Heidelberg, Victoria 3084, Australia. Electronic address:

Optimal supportive treatment of brain dead potential organ donors maximizes donation and transplant outcomes. Brain death is associated with activation of inflammatory pathways and loss of autoregulatory brain functions that may include hypothalamic-pituitary dysfunction. As well as general supportive care, specific treatment to counter the common sequelae of brain death such as hypotension, hypothermia, and diabetes insipidus is required. Read More

Crit Care Clin 2019 Apr 28;35(2):187-200. Epub 2019 Jan 28.

Intensive Care Unit, Royal Melbourne Hospital, 300 Grattan Street, Parkville, Victoria 3050, Australia.

Diabetes insipidus and the syndrome of inappropriate antidiuretic hormone secretion lie at opposite ends of the spectrum of disordered renal handling of water. Whereas renal retention of water insidiously causes hypotonic hyponatremia in syndrome of inappropriate antidiuretic hormone secretion, diabetes insipidus may lead to free water loss, hypernatremia, and volume depletion. Hypernatremia and hyponatremia are associated with worse outcomes and longer intensive care stays. Read More

Mol Genet Genomic Med 2019 04 19;7(4):e00568. Epub 2019 Feb 19.

La Paz University Hospital, Medical and Molecular Genetics Institute (INGEMM), IdiPAZ, Madrid, Spain.

Background: Congenital nephrogenic diabetes insipidus (NDI) is a rare condition characterized by severe polyuria, due to the inability of the kidneys to concentrate urine in response to arginine vasopressin (AVP). In the majority of the cases, the disease shows an X-linked inherited pattern, although an autosomal recessive inheritance was also observed.

Methods: We report a patient with a severe NDI diagnosed during the neonatal period. Read More