hypoparathyroidism

Summary

Summary: A condition caused by a deficiency of PARATHYROID HORMONE (or PTH). It is characterized by HYPOCALCEMIA and hyperphosphatemia. Hypocalcemia leads to TETANY. The acquired form is due to removal or injuries to the PARATHYROID GLANDS. The congenital form is due to mutations of genes, such as TBX1 (DIGEORGE SYNDROME); CASR encoding CALCIUM-SENSING RECEPTOR; or PTH encoding parathyroid hormone.

Top Publications

  1. ncbi Transient hypoparathyroidism following thyroidectomy: a prospective study and multivariate analysis of 604 consecutive patients
    Ottavio Cavicchi
    ENT Department, S Orsola Malpighi Hospital, Bologna University, Bologna, Italy
    Otolaryngol Head Neck Surg 137:654-8. 2007
  2. pmc Hypoparathyroidism in the adult: epidemiology, diagnosis, pathophysiology, target-organ involvement, treatment, and challenges for future research
    John P Bilezikian
    Department of Medicine, College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA
    J Bone Miner Res 26:2317-37. 2011
  3. pmc GATA3 abnormalities and the phenotypic spectrum of HDR syndrome
    K Muroya
    Department of Paediatrics, Keio University School of Medicine, 35 Shinanomachi, Shinjuku ku, Tokyo 160 8582, Japan
    J Med Genet 38:374-80. 2001
  4. ncbi Hypovitaminosis D and 'functional hypoparathyroidism'-the NoNoF (Nottingham Neck of Femur) study
    O Sahota
    Ageing and Disability Research Unit, B Floor Medical School, Queen s Medical Centre, University Hospital, Nottingham NG7 2UH, UK
    Age Ageing 30:467-72. 2001
  5. pmc Long-term treatment of 12 children with chronic hypoparathyroidism: a randomized trial comparing synthetic human parathyroid hormone 1-34 versus calcitriol and calcium
    Karen K Winer
    the Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892 7510, USA
    J Clin Endocrinol Metab 95:2680-8. 2010
  6. ncbi Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome
    Ruti Parvari
    Department of Developmental Molecular Genetics, Soroka Medical Center and Faculty of Health Sciences, Ben Gurion University of the Negev, Beer Sheva 84105, Israel
    Nat Genet 32:448-52. 2002
  7. ncbi The impact of surgical technique on postoperative hypoparathyroidism in bilateral thyroid surgery: a multivariate analysis of 5846 consecutive patients
    Oliver Thomusch
    Department of General Surgery, Albert Ludwigs University Freiburg, Hugstetter Strasse 55, D 79106 Freiburg, Germany
    Surgery 133:180-5. 2003
  8. ncbi The development of the parathyroid gland: from fish to human
    Jeffrey D Zajac
    Department of Medicine, University of Melbourne, Austin Health and Northern Health, Heidelberg, Victoria, Australia
    Curr Opin Nephrol Hypertens 17:353-6. 2008
  9. pmc PTH(1-34) replacement therapy in a child with hypoparathyroidism caused by a sporadic calcium receptor mutation
    Todd A Theman
    Craniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland, USA
    J Bone Miner Res 24:964-73. 2009
  10. pmc Parathyroid hormone stimulates circulating osteogenic cells in hypoparathyroidism
    M R Rubin
    Department of Medicine, Division of Endocrinology, College of Physicians and Surgeons, Columbia University, New York, New York 10032, USA
    J Clin Endocrinol Metab 96:176-86. 2011

Detail Information

Publications315 found, 100 shown here

  1. ncbi Transient hypoparathyroidism following thyroidectomy: a prospective study and multivariate analysis of 604 consecutive patients
    Ottavio Cavicchi
    ENT Department, S Orsola Malpighi Hospital, Bologna University, Bologna, Italy
    Otolaryngol Head Neck Surg 137:654-8. 2007
    The purpose of this study was to identify the risk factors for postoperative transient hypoparathyroidism in a group of patients undergoing thyroid surgery.
  2. pmc Hypoparathyroidism in the adult: epidemiology, diagnosis, pathophysiology, target-organ involvement, treatment, and challenges for future research
    John P Bilezikian
    Department of Medicine, College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA
    J Bone Miner Res 26:2317-37. 2011
    ..genetics, diagnosis, clinical presentations, skeletal involvement, and therapeutic approaches to hypoparathyroidism led to the First International Workshop on Hypoparathyroidism that was held in 2009...
  3. pmc GATA3 abnormalities and the phenotypic spectrum of HDR syndrome
    K Muroya
    Department of Paediatrics, Keio University School of Medicine, 35 Shinanomachi, Shinjuku ku, Tokyo 160 8582, Japan
    J Med Genet 38:374-80. 2001
    We report on GATA3 analysis and the phenotypic spectrum in nine Japanese families with the HDR syndrome (hypoparathyroidism, sensorineural deafness, and renal dysplasia) (MIM 146255)...
  4. ncbi Hypovitaminosis D and 'functional hypoparathyroidism'-the NoNoF (Nottingham Neck of Femur) study
    O Sahota
    Ageing and Disability Research Unit, B Floor Medical School, Queen s Medical Centre, University Hospital, Nottingham NG7 2UH, UK
    Age Ageing 30:467-72. 2001
    ..Although hip fractures are a serious consequence, few therapeutic measures are given for primary or secondary prevention. A combination of calcium and vitamin D may not be the most effective treatment for all patients...
  5. pmc Long-term treatment of 12 children with chronic hypoparathyroidism: a randomized trial comparing synthetic human parathyroid hormone 1-34 versus calcitriol and calcium
    Karen K Winer
    the Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892 7510, USA
    J Clin Endocrinol Metab 95:2680-8. 2010
    b>Hypoparathyroidism is among the few hormonal insufficiency states not treated with replacement of the missing hormone...
  6. ncbi Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome
    Ruti Parvari
    Department of Developmental Molecular Genetics, Soroka Medical Center and Faculty of Health Sciences, Ben Gurion University of the Negev, Beer Sheva 84105, Israel
    Nat Genet 32:448-52. 2002
    The syndrome of congenital hypoparathyroidism, mental retardation, facial dysmorphism and extreme growth failure (HRD or Sanjad-Sakati syndrome; OMIM 241410) is an autosomal recessive disorder reported almost exclusively in Middle Eastern ..
  7. ncbi The impact of surgical technique on postoperative hypoparathyroidism in bilateral thyroid surgery: a multivariate analysis of 5846 consecutive patients
    Oliver Thomusch
    Department of General Surgery, Albert Ludwigs University Freiburg, Hugstetter Strasse 55, D 79106 Freiburg, Germany
    Surgery 133:180-5. 2003
    Limited information exists about risk factors for postoperative hypoparathyroidism after bilateral thyroid surgery.
  8. ncbi The development of the parathyroid gland: from fish to human
    Jeffrey D Zajac
    Department of Medicine, University of Melbourne, Austin Health and Northern Health, Heidelberg, Victoria, Australia
    Curr Opin Nephrol Hypertens 17:353-6. 2008
    ..We describe the molecular mechanisms regulating parathyroid gland embryogenesis and the clinical syndromes related to mutations in control genes...
  9. pmc PTH(1-34) replacement therapy in a child with hypoparathyroidism caused by a sporadic calcium receptor mutation
    Todd A Theman
    Craniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland, USA
    J Bone Miner Res 24:964-73. 2009
    Autosomal dominant hypocalcemia (ADH) is an inherited form of hypoparathyroidism caused by activating mutations in the calcium-sensing receptor (CaR)...
  10. pmc Parathyroid hormone stimulates circulating osteogenic cells in hypoparathyroidism
    M R Rubin
    Department of Medicine, Division of Endocrinology, College of Physicians and Surgeons, Columbia University, New York, New York 10032, USA
    J Clin Endocrinol Metab 96:176-86. 2011
    The osteoanabolic properties of PTH may be due to increases in the number and maturity of circulating osteogenic cells. Hypoparathyroidism is a useful clinical model because this hypothesis can be tested by administering PTH.
  11. ncbi Hypoparathyroidism
    Hafsah Al-Azem
    McMaster University, 1101 75 Bold St, Hamilton, Ontario L8P 1T7, Canada
    Best Pract Res Clin Endocrinol Metab 26:517-22. 2012
    b>Hypoparathyroidism is characterized by hypocalcemia, hyperphosphatemia and low or inappropriately normal levels of parathyroid hormone (PTH)...
  12. ncbi Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor
    Asif Ali
    Academic Endocrine Unit, Nuffield Department of Clinical Medicine, Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Churchill Hospital, Headington, Oxford OX3 7LJ, UK
    Hum Mol Genet 16:265-75. 2007
    The hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome is an autosomal dominant disorder caused by mutations of the dual zinc finger transcription factor, GATA3...
  13. doi Clinical practice. Hypoparathyroidism
    Dolores Shoback
    University of California, San Francisco, Department of Veterans Affairs Medical Center, San Francisco 94121, USA
    N Engl J Med 359:391-403. 2008
  14. ncbi Normal parathyroid hormone levels do not exclude permanent hypoparathyroidism after thyroidectomy
    Regina Promberger
    Department of Surgery, Kaiserin Elisabeth Spital, Vienna, Austria
    Thyroid 21:145-50. 2011
    Permanent hypoparathyroidism has become the most common and the most severe complication after thyroid surgery...
  15. ncbi Long-term treatment of hypoparathyroidism: a randomized controlled study comparing parathyroid hormone-(1-34) versus calcitriol and calcium
    Karen K Winer
    Pediatric and Reproductive Endocrinology Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA
    J Clin Endocrinol Metab 88:4214-20. 2003
    b>Hypoparathyroidism is one of the few remaining hormonal insufficiency states for which replacement therapy is unavailable. Previous short-term controlled trials have shown PTH to be a safe and effective treatment of hypoparathyroidism...
  16. pmc Graves' ophthalmopathy as an indication increased the risk of hypoparathyroidism after bilateral thyroidectomy
    Kai Pun Wong
    Division of Endocrine Surgery, Department of Surgery, The University of Hong Kong, Queen Mary Hospital, Pokfulam Road, Hong Kong, Hong Kong
    World J Surg 35:2212-8. 2011
    ..We aimed to evaluate the impact of this indication on surgical outcomes in Graves' disease (GD)...
  17. ncbi Predictive factors for recurrent laryngeal nerve palsy and hypoparathyroidism after thyroid surgery
    Y Erbil
    Department of General Surgery, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey
    Clin Otolaryngol 32:32-7. 2007
    To evaluate the incidence and risk factors of recurrent laryngeal nerve palsy and hypoparathyroidism following thyroidectomy.
  18. ncbi Vitamin D3 deficiency is associated with late-onset hypocalcemia after minimally invasive parathyroidectomy in a vitamin D borderline area
    Brian Hung Hin Lang
    Department of Surgery, University of Hong Kong Medical Centre, Queen Mary Hospital, 102 Pokfulam Road, Hong Kong SAR, China
    World J Surg 34:1350-5. 2010
    ..We aimed to examine the clinicopathologic features and short-term outcomes of vitamin D(3)-deficient patients after minimally invasive parathyroidectomy (MIP)...
  19. pmc Mitochondrial cytopathy presenting with focal segmental glomerulosclerosis, hypoparathyroidism, sensorineural deafness, and progressive neurological disease
    R Hameed
    Birmingham Children's Hospital, Steelhouse Lane, Birmingham B4 6NH, UK
    Postgrad Med J 77:523-6. 2001
    ..He was found to have focal segmental glomerulosclerosis and associated hypoparathyroidism and sensorineural deafness...
  20. ncbi Severe hypomagnesemia and hypoparathyroidism in Kearns-Sayre syndrome
    K H Katsanos
    Department Internal Medicine, University Hospital of Ioannina, Greece
    Am J Nephrol 21:150-3. 2001
    ..We present an 18-year-old girl with KSS who developed hypoparathyroidism and renal tubular dysfunction with inappropriate mangesiuria and kaliuria...
  21. ncbi Proton-pump inhibitors and hypomagnesemic hypoparathyroidism
    Martin Epstein
    N Engl J Med 355:1834-6. 2006
  22. pmc Homozygosity and linkage-disequilibrium mapping of the syndrome of congenital hypoparathyroidism, growth and mental retardation, and dysmorphism to a 1-cM interval on chromosome 1q42-43
    R Parvari
    Genetics Institute, Soroka Medical Center, Beer Sheva, Israel
    Am J Hum Genet 63:163-9. 1998
    The syndrome of hypoparathyroidism associated with growth retardation, developmental delay, and dysmorphism (HRD) is a newly described, autosomal recessive, congenital disorder with severe, often fatal consequences...
  23. pmc Prospective study of postoperative complications after total thyroidectomy for multinodular goiters by surgeons with experience in endocrine surgery
    Antonio Rios Zambudio
    Department of General Surgery and Digestive Apparatus I, Hospital Universitario Virgen de la Arrixaca, Murcia, Spain
    Ann Surg 240:18-25. 2004
    ....
  24. pmc Familial isolated hypoparathyroidism caused by a mutation in the gene for the transcription factor GCMB
    C Ding
    Division of Pediatric Endocrinology, Department of Pediatrics, The Johns Hopkins University School of Medicine, 600 North Wolfe Street, Baltimore, MD 21287, USA
    J Clin Invest 108:1215-20. 2001
    b>Hypoparathyroidism is characterized by hypocalcemia, hyperphosphatemia, and absent or markedly reduced circulating concentrations of parathyroid hormone...
  25. pmc Mutation of the signal peptide-encoding region of the preproparathyroid hormone gene in familial isolated hypoparathyroidism
    A Arnold
    Endocrine Unit, Massachusetts General Hospital, Boston
    J Clin Invest 86:1084-7. 1990
    Preproparathyroid hormone (preproPTH) gene mutation has been proposed as a cause of familial isolated hypoparathyroidism (FIH)...
  26. ncbi Primary hypoparathyroidism: psychosis in postpartum period
    N J Patil
    Medicine Department, Lokmanya Tilak Municipal Medical College and General Hospital, Sion, Mumbai
    J Assoc Physicians India 58:506-8. 2010
    ..On correction of serum magnesium her PTH did not increase. She was hence diagnosed as primary hypoparathyroidism. On correction of her serum calcium her psychosis improved.
  27. ncbi Allotransplant of microencapsulated parathyroid tissue in severe postsurgical hypoparathyroidism: a case report
    P Cabané
    Endocrine Surgery, University of Chile Clinical Hospital, Santiago, Chile
    Transplant Proc 41:3879-83. 2009
    The last therapeutic alternative in severe postsurgical hypoparathyroidism is allotransplantation of microencapsulated parathyroid cells...
  28. ncbi [Autotransplantation of at least one parathyroid gland during thyroidectomy in benign thyroid disease minimizes the risk of permanent hypoparathyroidism]
    A Trupka
    Chirurgische Klinik, Krankenhaus Starnberg GmbH, Akadem Lehrkrankenhaus der Ludwig Maximilians Universität München, Germany
    Zentralbl Chir 127:439-42. 2002
    Permanent hypoparathyroidism is a distressing complication of thyroid surgery. The reported incidence varies between 0.4 and 13.8 % and is directly correlated to the extent of thyroidectomy...
  29. ncbi Molecular analysis of the GATA3 gene in five Japanese patients with HDR syndrome
    Akie Nakamura
    Department of Pediatrics, Hokkaido University School of Medicine, Sapporo, Japan
    Endocr J 58:123-30. 2011
    ..Heterozygous GATA3 abnormalities are associated with hypoparathyroidism, sensorineural deafness, and renal abnormality (HDR syndrome)...
  30. ncbi Analysis of the GCM2 gene in isolated hypoparathyroidism: a molecular and biochemical study
    Alexander Maret
    Division of Pediatric Endocrinology, University Hospital of Geneva, CH 1211 Geneva, Switzerland
    J Clin Endocrinol Metab 93:1426-32. 2008
    b>Hypoparathyroidism is characterized by hypocalcemia, hyperphosphatemia, and absent or markedly reduced serum levels of intact PTH. The transcription factor GCM2 is critical for the development of parathyroid glands in mice and humans.
  31. pmc Long-term follow-up of patients with hypoparathyroidism
    Deborah M Mitchell
    Endocrine Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA
    J Clin Endocrinol Metab 97:4507-14. 2012
    Despite tremendous interest in hypoparathyroidism, large cohort studies describing typical treatment patterns, laboratory parameters, and rates of complications are lacking.
  32. ncbi Mitochondrial DNA deletion in a child with mitochondrial encephalomyopathy, growth hormone deficiency, and hypoparathyroidism
    Denise Cassandrini
    Neuromuscular Diseases Unit, Department of Pediatrics, University of Genova, Italy
    J Child Neurol 21:983-5. 2006
    ..This deletion was absent in the blood DNA of his mother and brother. This case further expands and confirms the wide clinical spectrum of mitochondrial disorders associated with single large-scale mitochondrial DNA deletions...
  33. pmc Synthetic human parathyroid hormone 1-34 replacement therapy: a randomized crossover trial comparing pump versus injections in the treatment of chronic hypoparathyroidism
    Karen K Winer
    the Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, Maryland 20892 7510, USA
    J Clin Endocrinol Metab 97:391-9. 2012
    Vitamin D therapy for hypoparathyroidism does not restore PTH-dependent renal calcium reabsorption, which can lead to renal damage...
  34. pmc Identification and characterization of C106R, a novel mutation in the DNA-binding domain of GCMB, in a family with autosomal-dominant hypoparathyroidism
    Hyon Seung Yi
    Department of Internal Medicine and Laboratory of Molecular Endocrinology, Gachon University School of Medicine, Incheon, Korea
    Clin Endocrinol (Oxf) 76:625-33. 2012
    ..Several mutations in GCMB have been reported to cause hypoparathyroidism (HP)...
  35. ncbi A donor splice site mutation in the parathyroid hormone gene is associated with autosomal recessive hypoparathyroidism
    D B Parkinson
    Division of Molecular Medicine, MRC Clinical Research Centre, Harrow, Middlesex, UK
    Nat Genet 1:149-52. 1992
    Investigation of one kindred with autosomal recessive isolated hypoparathyroidism, which had resulted from a consanguineous marriage, has identified a g to c substitution in the first nucleotide of intron 2 of the parathyroid hormone (PTH)..
  36. ncbi The effect of adding PTH(1-84) to conventional treatment of hypoparathyroidism: a randomized, placebo-controlled study
    Tanja Sikjaer
    Department of Metabolism and Internal Medicine, MEA, THG, Aarhus University Hospital, Aarhus, Denmark
    J Bone Miner Res 26:2358-70. 2011
    In hypoparathyroidism, plasma parathyroid hormone (PTH) levels are inadequate to maintain plasma calcium concentration within the reference range...
  37. ncbi Neuropsychological dysfunction in idiopathic hypoparathyroidism and its relationship with intracranial calcification and serum total calcium
    Sameer Aggarwal
    Department of Endocrinology and Metabolism, All India Institute of Medical Sciences, New Delhi 110029, India
    Eur J Endocrinol 168:895-903. 2013
    There is limited information on neuropsychological and neurological dysfunctions in patients with idiopathic hypoparathyroidism (IH).
  38. ncbi Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy
    Jaakko Perheentupa
    The Hospital for Children and Adolescents, Helsinki University Hospital, FIN 00029 Helsinki, Finland
    J Clin Endocrinol Metab 91:2843-50. 2006
    ..dystrophy is known as a rare hereditary disease with classic triad of mucocutaneous candidiasis, hypoparathyroidism, and adrenocortical failure, two of which, diagnostic dyad, are required for the diagnosis...
  39. ncbi GCMB mutation in familial isolated hypoparathyroidism with residual secretion of parathyroid hormone
    Caroline Thomée
    Department of Internal Medicine, Children s Unit, Centre Hospitalier Etterbeek Ixelles, Brussels
    J Clin Endocrinol Metab 90:2487-92. 2005
    Isolated hypoparathyroidism is an uncommon metabolic disorder characterized by hypocalcemia and hyperphosphatemia, with absent or low levels of PTH...
  40. ncbi A case of chromosome 22q11 deletion syndrome diagnosed in a 32-year-old man with hypoparathyroidism
    Naim M Maalouf
    Center for Mineral Metabolism and Clinical Research, University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, Texas 75390 8885, USA
    J Clin Endocrinol Metab 89:4817-20. 2004
    Congenital hypoparathyroidism typically manifests with hypocalcemia with or without associated characteristic physical findings and is usually diagnosed during the neonatal period...
  41. ncbi Presence and significance of a R110W mutation in the DNA-binding domain of GCM2 gene in patients with isolated hypoparathyroidism and their family members
    Neeraj Tomar
    Department of Endocrinology and Metabolism, All India Institute of Medical Sciences, New Delhi 110029, India
    Eur J Endocrinol 162:407-21. 2010
    Glial cells missing 2 (GCM2) gene encodes a parathyroid-specific transcription factor. We assessed GCM2 gene sequence in patients with isolated hypoparathyroidism (IH).
  42. ncbi Novel gain of function mutations of the calcium-sensing receptor in two patients with PTH-deficient hypocalcemia
    Kishiko Nakajima
    Department of Medicine, Institute of Clinical Endocrinology, Tokyo Women s Medical University, Tokyo
    Intern Med 48:1951-6. 2009
    ..These findings suggest that gene analysis of CaSR should be performed in patients with idiopathic hypocalcemia, particularly when it occurs in the neonatal period...
  43. ncbi Hypoparathyroidism and pseudohypoparathyroidism
    Sergio S Maeda
    Division of Endocrinology, EPM, UNIFESP, Sao Paulo, SP, Brazil
    Arq Bras Endocrinol Metabol 50:664-73. 2006
    ..may alter its function, limiting its control on calcium: insufficient PTH production by the parathyroids (hypoparathyroidism), or a resistance against its action in target tissues (pseudohypoparathyroidism)...
  44. ncbi Depression as a manifestation of latent chronic hypoparathyroidism
    Thomas Bohrer
    Department of Cardiothoracic Surgery, Julius Maximilians University of Wuerzburg, Wuerzburg, Germany
    World J Biol Psychiatry 8:56-9. 2007
    The exact cause of depression in cases of hypoparathyroidism is not known...
  45. ncbi [Hypoparathyroidism after surgery on thyroid cancer: is there a delayed chance for recovery after a prolonged period of substitutive therapy?]
    Beata Jurecka-Lubieniecka
    Department of Nuclear Medicine and Endocrine Oncology, Maria Skłodowska Curie Memorial Cancer Center, Institute of Oncology, Gliwice Branch, Gliwice, Poland
    Endokrynol Pol 57:501-8. 2006
    Transient and persistent hypoparathyroidism (HPT) belong to the well known complications of total thyroidectomy performed because of thyroid carcinoma...
  46. ncbi Bilateral striopallidodentate calcification (Fahr's syndrome) and multiple system atrophy in a patient with longstanding hypoparathyroidism
    Matthias Preusser
    Institute of Neurology, Medical University of Vienna, Vienna, Austria
    Neuropathology 27:453-6. 2007
    ..We report here a case showing similar neuropathological features in a patient with longstanding hypoparathyroidism. Our female patient had a history of hypoparathyroidism with hypocalcaemia and tetany since the age of 9 ..
  47. ncbi Postoperative hypoparathyroidism: medical and surgical therapeutic options
    Vanessa Walker Harris
    Internal Medicine, The Johns Hopkins Bayview Medical Center, Baltimore, Maryland 21224, USA
    Thyroid 19:967-73. 2009
    b>Hypoparathyroidism occurs when the parathyroid glands, through lack of secretion of or resistance to parathyroid hormone (PTH), are unable to maintain calcium homeostasis...
  48. ncbi Functional analysis of a novel GATA3 mutation in a family with the hypoparathyroidism, deafness, and renal dysplasia syndrome
    Alireza Zahirieh
    Department of Nephrology, University Health Network, Toronto, Ontario, Canada M5G2C4
    J Clin Endocrinol Metab 90:2445-50. 2005
    The hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome is an autosomal dominant disorder caused by mutations of a member of the GATA-binding family of transcription factors, GATA3...
  49. ncbi Transient neonatal hypoparathyroidism in two siblings unmasking maternal normocalcemic hyperparathyroidism
    Preamrudee Poomthavorn
    Department of Pediatrics, Faculty of Medicine, Ramathibodi Hospital, Bangkok, 10400, Thailand
    Eur J Pediatr 167:431-4. 2008
    b>Hypoparathyroidism is one of the recognized causes of late-onset neonatal hypocalcemia. Maternal hypercalcemic hyperparathyroidism has been shown to suppress fetal parathyroid glands, causing transient neonatal hypoparathyroidism...
  50. ncbi Identification of a novel insertion mutation in GATA3 with HDR syndrome
    Yukari Mino
    Department of Epidemiology, Research Institute, National Cardiovascular Center, 5 7 1 Fujishiro dai, Suita, Osaka 565 8565, Japan
    Clin Exp Nephrol 9:58-61. 2005
    Recently, a member of the GATA-binding family of transcription factors was shown to be involved in human hypoparathyroidism, sensorineural deafness, and renal abnormality (HDR) syndrome...
  51. ncbi Novel mutation in the gene encoding the GATA3 transcription factor in a Spanish familial case of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome with female genital tract malformations
    Alba M Hernández
    Unidad de Genetica Molecular, Hospital Ramon y Cajal, Madrid, Spain
    Am J Med Genet A 143:757-62. 2007
  52. pmc Recovery of parathyroid hormone secretion and function in postoperative hypoparathyroidism: a case series
    Natalie E Cusano
    MD, Department of Medicine, PH 8W 864, Columbia University College of Physicians and Surgeons, 630 West 168th Street, PH8W, Room 864, New York, New York 10032
    J Clin Endocrinol Metab 98:4285-90. 2013
    Transient and permanent postoperative hypoparathyroidism are recognized complications of neck surgery...
  53. ncbi GATA3 abnormalities in six patients with HDR syndrome
    Maki Fukami
    Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan
    Endocr J 58:117-21. 2011
    GATA3 mutations cause HDR (hypoparathyroidism, sensorineural deafness, and renal dysplasia) syndrome and, consistent with the presence of the second DiGeorge syndrome locus (DGS2) proximal to GATA3, distal 10p deletions often leads to HDR ..
  54. ncbi [Hypocalcemic dilated cardiomyopathy: rare cause of heart failure]
    S Chraibi
    Service de cardiologie, CHU Ibn Rochd, Casablanca, Maroc
    Ann Med Interne (Paris) 152:483-5. 2001
    ..woman who developed congestive heart failure induced by severe chronic hypocalcemia disclosing primary hypoparathyroidism. Complete regression of the clinical signs was achieved with vitamin-calcium treatment, but left ventricular ..
  55. ncbi Recurrent cerebral infarctions and del(10)(p14p15.1) de novo in HDR (hypoparathyroidism, sensorineural deafness, renal dysplasia) syndrome
    S Fujimoto
    Department of Pediatrics, Nagoya City University Medical School, Nagoya, Japan
    Am J Med Genet 86:427-9. 1999
    We report on a Japanese boy with HDR syndrome (hypoparathyroidism, sensorineural deafness, renal dysplasia) and recurrent cerebral infarctions in the basal ganglia...
  56. ncbi Hypoparathyroidism: from diagnosis to treatment
    Vincenzo De Sanctis
    Pediatric and Adolescent Outpatient Clinic, Quisisana Hospital, Ferrara, Italy
    Curr Opin Endocrinol Diabetes Obes 19:435-42. 2012
    This review provides an update on hypoparathyroidism (HPT), focusing on the major aspects of diagnosis, clinical manifestations and management of patients with hypocalcaemia due to HPT.
  57. ncbi Reversible congestive heart failure related to profound hypocalcemia secondary to hypoparathyroidism
    Asif S Kazmi
    Veterans Affairs Medical Center and University of Tennessee Health Science Center, Memphis, Tennessee 38103, USA
    Am J Med Sci 333:226-9. 2007
    ..Hypocalcemia was related to surgically induced hypoparathyroidism. The patient had been instructed to decrease calcium supplements and to discontinue calcitriol 3 months ..
  58. ncbi Medical management of postsurgical hypoparathyroidism
    Maryam I Khan
    Department of Endocrine Neoplasia and Hormonal Disorders, University of Texas MD Anderson Cancer Center, Houston, Texas 77030, USA
    Endocr Pract 17:18-25. 2011
    To provide a clinical update on the management of hypoparathyroidism with focus on postsurgical hypoparathyroidism.
  59. ncbi Fahr's disease and schizophrenia in a patient with secondary hypoparathyroidism
    Boro Ilievski
    J Neuropsychiatry Clin Neurosci 14:357-8. 2002
  60. ncbi Hypoparathyroidism and intracerebral calcification in patients with beta-thalassemia major
    M Karimi
    Iran Shiraz Namazee Hospital, Namazee Square, Hematology Research Center, Department of Pediatrics, Shiraz University of Medical Sciences, Shiraz, Iran
    Eur J Radiol 70:481-4. 2009
    b>Hypoparathyroidism is one of the most important endocrine complications of thalassemia major...
  61. ncbi Increased bone mineral density in patients with chronic hypoparathyroidism
    Fredriech K W Chan
    Department of Medicine, Queen Elizabeth Hospital, Hong Kong SAR, China
    J Clin Endocrinol Metab 88:3155-9. 2003
    Bone mineral density (BMD) has been shown to be increased in postmenopausal females with postthyroidectomy hypoparathyroidism, but it is not known whether similar gains occur in patients with idiopathic hypoparathyroidism...
  62. ncbi Prevalence and progression of basal ganglia calcification and its pathogenic mechanism in patients with idiopathic hypoparathyroidism
    Ravinder Goswami
    Department of Endocrinology, New Delhi, India
    Clin Endocrinol (Oxf) 77:200-6. 2012
    The pathogenesis of basal ganglia calcification (BGC) in hypoparathyroidism is not clear. Its occurrence in hypocalcaemic milieu of hypoparathyroidism is believed to be due to high serum calcium-phosphorus product and poor calcium control.
  63. ncbi [Differential diagnosis of hypoparathyroidism and the Ellsworth-Howard's test]
    Ryo Okazaki
    Teikyo University Chiba Medical Center, Third Department of Medicine, Japan
    Clin Calcium 17:1182-5. 2007
    ..along with normo- or hyper-phosphatemia in the absence of decreased renal function strongly suggests hypoparathyroidism. The first step of differential diagnosis is the measurement of serum intact-PTH level...
  64. ncbi Hypoparathyroidism in a patient with systemic lupus erythematosus coexisted with ankylosing spondylitis: a case report and review of literature
    Lindi Jiang
    Department of Rheumatology, Zhongshan Hospital, Fudan University, No 180, Road Fenglin, Shanghai 200032, China
    Joint Bone Spine 77:608-10. 2010
    b>Hypoparathyroidism is rare in patients with systemic lupus erythematosus (SLE)...
  65. ncbi Delayed-onset hypoparathyroidism in an adolescent with chromosome 22Q11 deletion syndrome
    Jaspreet S Kambo
    Department of Endocrinology, University of Sydney Nepean Clinical School, Penrith, NSW, Australia
    Endocr Pract 17:e123-5. 2011
    To describe the first case of established chromosome 22q11 deletion syndrome with late onset presentation of hypocalcemia secondary to hypoparathyroidism.
  66. pmc An interstitial deletion-insertion involving chromosomes 2p25.3 and Xq27.1, near SOX3, causes X-linked recessive hypoparathyroidism
    Michael R Bowl
    Academic Endocrine Unit, Nuffield Department of Medicine, University of Oxford, Oxford Centre for Diabetes, Endocrinology and Metabolism OCDEM, Churchill Hospital, Oxford, United Kingdom
    J Clin Invest 115:2822-31. 2005
    X-linked recessive hypoparathyroidism, due to parathyroid agenesis, has been mapped to a 906-kb region on Xq27 that contains 3 genes (ATP11C, U7snRNA, and SOX3), and analyses have not revealed mutations...
  67. ncbi Generalized pustular psoriasis with hypoparathyroidism
    A Kawamura
    Department of Dermatology, Surugadai Nihon University Hospital, 1 8 13 Kanda Surugadai, Chiyoda ku, Tokyo 101, Japan
    Eur J Dermatol 9:574-6. 1999
    ..It was suggested that generalized pustular psoriasis may have been induced by hypocalcemia due to hypoparathyroidism in this case, and that acantholysis may be caused by hypocalcemia, since intercellular junctional components ..
  68. ncbi A clinical chameleon: postoperative hypoparathyroidism
    Thomas Bohrer
    Department of Visceral, Thoracic and General Surgery, Philipps University of Marburg, Baldingerstrasse, 35043 Marburg, Germany
    Langenbecks Arch Surg 392:423-6. 2007
    About 1,200 patients per year develop postoperative hypoparathyroidism alone in Germany. Many of those patients may be misdiagnosed as the symptoms of this disease may vary and can be atypical.
  69. ncbi A missense GATA3 mutation, Thr272Ile, causes the hypoparathyroidism, deafness, and renal dysplasia syndrome
    Katherine U Gaynor
    Academic Endocrine Unit, Nuffield Department of Clinical Medicine, University of Oxford, Churchill Hospital, Headington, Oxford OX3 7LJ, United Kingdom
    J Clin Endocrinol Metab 94:3897-904. 2009
    The hypoparathyroidism, deafness, renal dysplasia (HDR) syndrome is caused by mutations in the gene encoding GATA3, which belongs to a family of dual zinc-finger transcription factors that have a role in vertebrate embryonic development.
  70. ncbi Prevalence and significance of NALP5 autoantibodies in patients with idiopathic hypoparathyroidism
    Neeraj Tomar
    Department of Endocrinology and Metabolism, All India Institute of Medical Sciences, New Delhi 110029, India
    J Clin Endocrinol Metab 97:1219-26. 2012
    Role of parathyroid autoimmunity in idiopathic hypoparathyroidism (IH) is not clear...
  71. ncbi Functional hypoparathyroidism in postmenopausal women with fragility fracture
    Adamah Amouzougan
    Inserm U1059, Rheumatology Department, University Hospital of Saint Etienne, 42055 Saint Etienne Cedex 2, France
    Joint Bone Spine 79:170-5. 2012
    ..sometimes is lacking despite authentic vitamin D insufficiency (VDI) and the concept of functional hypoparathyroidism with a protective role on bone status has been proposed...
  72. ncbi Cessation of dental development in a child with idiopathic hypoparathyroidism: a 5-year follow-up
    Alice Kelly
    Department of Pediatric Dentistry and Orthodontics, School of Dentistry, Federal University of Rio de Janeiro, Brazil
    Oral Surg Oral Med Oral Pathol Oral Radiol Endod 107:673-7. 2009
    Idiopathic hypoparathyroidism is a rare endocrinopathy whose origin is unknown, and which is characterized by a deficiency of parathyroid hormone causing low serum calcium and high serum phosphorus concentrations...
  73. pmc Hypoparathyroidism: clinical features, skeletal microstructure and parathyroid hormone replacement
    Mishaela R Rubin
    Departamento de Medicina, Columbia University, Nova York, Estados Unidos
    Arq Bras Endocrinol Metabol 54:220-6. 2010
    b>Hypoparathyroidism is a disorder in which parathyroid hormone is deficient in the circulation due most often to immunological destruction of the parathyroids or to their surgical removal...
  74. pmc Anti-parathyroid and anti-calcium sensing receptor antibodies in autoimmune hypoparathyroidism
    Edward M Brown
    Division of Endocrinology, Diabetes and Hypertension, Department of Medicine, Brigham and Women s Hospital, Boston, MA 02115, USA
    Endocrinol Metab Clin North Am 38:437-45, x. 2009
    ..target for autoimmunity, the exception being autoimmune polyglandular syndrome type 1, in which autoimmune hypoparathyroidism is the rule...
  75. ncbi Hypoparathyroidism: a rare treatable cause of epilepsy - report of two cases
    M Bindu
    Department of Neurology, Sri Venkateswara Institute of Medical Science, Tirupati 517507, AP, India
    Eur J Neurol 13:786-8. 2006
    b>Hypoparathyroidism occurs due to insufficient production of parathyroid hormone to maintain extracellular calcium levels within the normal range...
  76. ncbi X-linked hypoparathyroidism region on Xq27 is evolutionarily conserved with regions on 3q26 and 13q34 and contains a novel P-type ATPase
    M Andrew Nesbit
    Academic Endocrine Unit, Nuffield Department of Clinical Medicine, University of Oxford, Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, Headington, Oxford OX3 7LJ, UK
    Genomics 84:1060-70. 2004
    X-linked hypoparathyroidism (HPT) has been mapped to a 988-kb region on chromosome Xq27 that contains three genes, MCF2/DBL, SOX3, and U7snRNA homologue, and a partial cDNA, AS6...
  77. ncbi Idiopathic hypoparathyroidism presenting with severe hypocalcemia and asymptomatic basal ganglia calcification followed by acute intracerebral bleed
    Nirav Mamdani
    The Division of Endocrinology, Diabetes, and Metabolism, Wayne State University School of Medicine, Detroit, Michigan 48201, USA
    Endocr Pract 13:487-92. 2007
    To report a case of idiopathic hypoparathyroidism presenting with severe hypocalcemia and intracerebral calcifications that resulted in a spontaneous intracerebral bleed.
  78. ncbi Development of systemic lupus erythematosus in a patient with hypoparathyroidism: a case report and review of the literature
    Maryam Sahebari
    Rheumatic Diseases Research Center, Mashhad University of Medical Sciences, Mashhad, Iran
    Int J Rheum Dis 13:175-9. 2010
    Systemic lupus erythematosus (SLE) is an autoimmune disease in which organs undergo damage. Hypoparathyroidism is a rare disease, which presents in two forms: hereditary and acquired. Cases of hypoparathyroidism and SLE rarely co-exist...
  79. ncbi Treatment of hypocalcemia caused by hypoparathyroidism or pseudohypoparathyroidism with domestic-made calcitriol: a prospective and self-controlled clinical trial
    Ou Wang
    Department of Endocrinology, Key Lab of Endocrinology Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing 100730, China
    Chin Med J (Engl) 122:279-83. 2009
    ..Here we reported a prospective and open-label trial to investigate the efficacy and safety of domestic-made calcitriol in treatment of hypocalcemia caused by hypoparathyroidism or pseudohypoparathyroidism.
  80. ncbi Reading epilepsy as the initial symptom of idiopathic hypoparathyroidism
    Kengo Maeda
    Department of Neurology, National Hospital Organization, Shiga Hospital, Japan
    Intern Med 50:1235-7. 2011
    ..In this report, we describe a patient in whom seizure was the initial symptom of idiopathic hypoparathyroidism. A 31-year-old man experienced seizures three times in different bookshops while browsing...
  81. ncbi A case of hereditary angioedema associated with idiopathic hypoparathyroidism
    S H Kim
    Department of Internal Medicine, Seoul National University College of Medicine, 28 Yongondong, Chongnogu, Seoul 110-744, Korea
    Korean J Intern Med 16:281-3. 2001
    ..We report a 34-year-old male patient with hereditary angioedema who developed idiopathic hypoparathyroidism. Autoimmunity seems to be an important basis of this association and it might be caused by the immune ..
  82. ncbi Tonic-clonic seizures in a patient with primary hypoparathyroidism: a case report
    C Armelisasso
    Institute of Neurology, Catholic University of Rome, Policlinico Agostino Gemelli, Rome, Italy
    Clin EEG Neurosci 35:97-9. 2004
    b>Hypoparathyroidism, a life threatening disorder, occurs when insufficient parathyroid hormone is produced to maintain extracellular calcium levels within the normal range...
  83. ncbi The hypoparathyroidism of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy protective effect of male sex
    Mikhail Gylling
    Department of Bacteriology and Immunology, University of Helsinki, FIN 00014 Helsinki, Finland
    J Clin Endocrinol Metab 88:4602-8. 2003
    In autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy, hypoparathyroidism (HP) is the most common endocrine component. It occurs in most (but not all) patients...
  84. ncbi Hypoparathyroidism, intracranial calcification, and seizures 61 years after thyroid surgery
    S T Reddy
    Department of Internal Medicine, James H Quillen College of Medicine, Johnson City, TN 37614, USA
    Tenn Med 92:341-2. 1999
    Though hypocalcemic symptoms from hypoparathyroidism following thyroidectomy most often occur in the immediate postoperative period, hypoparathyroidism can present itself many years after the thyroid surgery with nonspecific symptoms...
  85. ncbi Calcification of the basal ganglia in chronic hypoparathyroidism
    Rita Rastogi
    Division of Endocrinology and Metabolism, Department of Medicine, Johns Hopkins University, Baltimore, Maryland 21287 0003, USA
    J Clin Endocrinol Metab 88:1476-7. 2003
  86. ncbi Pattern of bone mineral density in patients with sporadic idiopathic hypoparathyroidism
    Bashir Ahmad Laway
    Department of Endocrinology and Metabolism, All India Institute of Medical Sciences, New Delhi 110029, India
    Clin Endocrinol (Oxf) 64:405-9. 2006
    Measurement of bone mineral density (BMD) in patients with hypoparathyroidism directly addresses the effect of chronic under-exposure of bone to PTH...
  87. ncbi Well-being, mood and calcium homeostasis in patients with hypoparathyroidism receiving standard treatment with calcium and vitamin D
    Wiebke Arlt
    Department of Medicine, Endocrine and Diabetes Unit, University of Wuerzburg, Germany
    Eur J Endocrinol 146:215-22. 2002
    Standard treatment in hypoparathyroidism consists of calcium and vitamin D (or vitamin D analogs) but does not employ replacement of the actual missing hormone...
  88. ncbi Parathyroid autotransplantation during thyroidectomy
    Chung Yau Lo
    Department of Surgery, University of Hong Kong Medical Centre, Queen Mary Hospital, China
    ANZ J Surg 72:902-7. 2002
    Permanent hypoparathyroidism is a debilitating morbidity following thyroidectomy, with a reported incidence of up to 43%...
  89. pmc Signal sequence mutation in autosomal dominant form of hypoparathyroidism induces apoptosis that is corrected by a chemical chaperone
    Rupak Datta
    Edward A Doisy Department of Biochemistry and Molecular Biology, Saint Louis University School of Medicine, St Louis, MO 63104, USA
    Proc Natl Acad Sci U S A 104:19989-94. 2007
    Autosomal dominant familial isolated hypoparathyroidism (AD-FIH) is caused by a Cys --> Arg mutation (C18R) in the hydrophobic core of the signal peptide of human preproparathyroid hormone (PPTH)...
  90. ncbi Safe incorporation of new technologies in thyroid surgery
    Gianlorenzo Dionigi
    Center of Endocrine Surgery, Department of Surgical Sciences, University of Insubria, Azienda Ospedaliero Universitario, Fondazione Macchi, Varese, Italy
    Expert Rev Med Devices 5:747-58. 2008
    ..Searches were last updated in April 2008...
  91. ncbi Parathyroid autotransplantation
    Jennifer Movassaghi Moffett
    Michael E DeBakey Department of Surgery, Baylor College of Medicine, Houston, Texas 77030, USA
    Endocr Pract 17:83-9. 2011
    ..To summarize the indications and techniques for parathyroid autotransplantation and to explore other aspects of the field that warrant further research and discussion...
  92. ncbi Hypoketotic hypoglycemia with myolysis and hypoparathyroidism: an unusual association in medium chain acyl-CoA desydrogenase deficiency (MCADD)
    Julien Baruteau
    APHP, Hopital Robert Debre, Service de Neurologie Pédiatrique et Maladies Héréditaires du Métabolisme, Paris, France
    J Pediatr Endocrinol Metab 22:1175-7. 2009
    ..Evolution was complicated by acute renal failure, increased serum levels of transaminases and hypoparathyroidism. Diagnosis of MCADD was supported by typical plasma acylcarnitine and urinary organic acid profiles, and ..
  93. ncbi The impact of single parathyroid gland autotransplantation during thyroid surgery on postoperative hypoparathyroidism: a multicenter study
    M Testini
    University of Bari, Bari, Italy
    Transplant Proc 39:225-30. 2007
    ..We compared the surgical outcomes in patients undergoing bilateral thyroid surgery with or without parathyroid gland autotransplantation (PTAT)...
  94. ncbi Successful treatment of vitamin D unresponsive hypoparathyroidism with multipulse subcutaneous infusion of teriparatide
    Manel Puig-Domingo
    Servei de Endocrinologia, Hospital Clinic, Universitat de Barcelona, 08036 Barcelona, Spain
    Eur J Endocrinol 159:653-7. 2008
    b>Hypoparathyroidism is usually controlled with calcium and vitamin-D supplements; in very few cases this treatment fails and teriparatide may be an alternative...
  95. ncbi [Fabry's disease and hypoparathyroidism]
    Laurent Misery
    Service de Dermatologie, 42055 Saint Etienne Cedex, France
    Ann Med Interne (Paris) 153:283-5. 2002
    ..Fabry's disease is due to alpha-galactosidase deficiency. This rare lysosomal storage disease is transmitted by recessive X-linked heredity. Sphingolipids (galactosyl-glucosyl-ceramide) accumulate in many organs...
  96. ncbi Unintentional parathyroidectomy and hypoparathyroidism in secondary central compartment surgery for thyroid cancer
    Michael P Ondik
    Division of Otolaryngology Head and Neck Surgery, Department of Surgery, Penn State Hershey Medical Center, University School of Medicine, 500 University Drive, MCH091, Hershey, PA 17033 0850, USA
    Head Neck 32:462-6. 2010
    ..To our knowledge, no study has specifically examined the incidence of inadvertent parathyroidectomy exclusively in patients undergoing secondary central compartment surgery for recurrent or persistent thyroid cancer...
  97. ncbi Hypoparathyroidism-retardation-Dysmorphism (HRD) syndrome--a review
    Eli Hershkovitz
    Pediatric Endocrinology Unit and Department of Developmental Molecular Genetics, Soroka Medical Center and Faculty of Health Sciences, Ben Gurion University of the Negev, Beer Sheva, Israel
    J Pediatr Endocrinol Metab 17:1583-90. 2004
    b>Hypoparathyroidism, retardation, and dysmorphism (HRD) is a newly recognized genetic syndrome, described in patients of Arab origin...
  98. ncbi Hypoparathyroidism in a patient presenting with severe myopathy and skin rash. Case report and review of the literature
    Vassiliki Syriou
    Department of Pathophysiology Laiko Hospital, University of Athens, School of Medicine, Athens, Greece uoa gr
    Hormones (Athens) 4:161-4. 2005
    A 47-year old man with idiopathic hypoparathyroidism (IHP), presented as severe myopathy and skin rash is described. The serum muscle enzymes were increased...
  99. ncbi Hypoparathyroidism after total thyroidectomy: a prospective study
    Reza Asari
    Medical University of Vienna, Waehringer Guertel 18 20, Vienna A 1080, Austria
    Arch Surg 143:132-7; discussion 138. 2008
    ..Combined measurement of intact parathyroid hormone (iPTH) and serum calcium (sCa) levels is useful for predicting postoperative hypocalcemia with minimal laboratory effort and low costs...
  100. ncbi Symptomatic hypoparathyroidism based on a 22q11 deletion first diagnosed in a 43-year-old woman
    K Van Den Berge
    Department of Medicine, Medical Centre Rijnmond Zuid, Rotterdam, The Netherlands
    Neth J Med 67:102-4. 2009
    Congenital hypoparathyroidism usually manifests in early childhood with hypocalcaemia with or without clinical characteristics...
  101. ncbi Hypoparathyroidism potentiates cardiovascular complications through disturbed calcium metabolism: possible risk of vitamin D(3) analog administration in dialysis patients with end-stage renal disease
    K Tsuchihashi
    2nd Department of Internal Medicine, Sapporo Medical University School of Medicine, Sapporo, Japan
    Nephron 84:13-20. 2000
    ..We tested whether metabolic calcium abnormalities and hypoparathyroidism might have a correlation with cardiovascular complications in ESRD patients.

Research Grants43

  1. Genetic Dissection of Auditory Circuit Assembly
    Lisa V Goodrich; Fiscal Year: 2013
    ..and molecular properties of auditory neurons, and may shed light on the etiology of deafness associated with hypoparathyroidism, sensorineural deafness, and renal anomalies (HDR), which is caused by mutations in GATA3.
  2. Innovative mouse model to study parathyroids and an application to human disease
    Beate Lanske; Fiscal Year: 2010
    ..We will also apply this new model to a specific genetic form of hypoparathyroidism (HP)...
  3. Dominant-negative GCMB mutations cause hypoparathyroidism
    MICHAEL MANNSTADT; Fiscal Year: 2012
    ..within GCMB, the human homolog of Gcm2, was previously revealed as a cause of an autosomal recessive form of hypoparathyroidism. I have now identified heterozygous GCMB mutations in the affected, but not the unaffected members of two ..
  4. BONE PROPERTIES IN HYPOPARATHYROIDISM: EFFECTS OF PTH
    John P Bilezikian; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Hypoparathyroidism is an uncommon human skeletal disorder in which parathyroid hormone (PTH) is markedly decreased or absent from the circulation...
  5. A novel approach for diagnosis and newborn screening for 22q11 deletion syndrome
    Lisa Kobrynski; Fiscal Year: 2009
    ..Some of the associated conditions such as hypoparathyroidism or thymic aplasia require immediate therapy soon after birth...
  6. Treatment of Hypoparathyroidism with Parathyroid Hormone
    John P Bilezikian; Fiscal Year: 2012
    DESCRIPTION (provided by applicant): Hypoparathyroidism is a rare disorder in which parathyroid hormone (PTH) is markedly decreased or absent from the circulation...
  7. Skeletal Regulation of Cortical and Trabecular Bone by Parathyroid Hormone
    Natalie Cusano; Fiscal Year: 2013
    ..Two diseases of PTH excess and deficiency, primary hyperparathyroidism (PHPT) and hypoparathyroidism (HypoPT), respectively, offer a rich repository of data that suggest roles for PTH not only with regard to ..
  8. SIGNAL PEPTIDASE STRUCTURE AND FUNCTION
    MARK LIVELY; Fiscal Year: 1999
    ..coagulation factor X), familial neurohypophyseal diabetes insipidus (vasopressin), and a form of familial hypoparathyroidism (parathyroid hormone). Many other such inherited defects probably exist but have not been recognized...
  9. OVARIAN STEROIDS AND CALCIUM HOMEOSTASIS
    NEIL BRESLAU; Fiscal Year: 1991
    ..D metabolism and fractional intestinal 47Ca absorption will be examined in patients with PTH-deficient hypoparathyroidism before and after the administration of PTH...
  10. GENE DISCOVERY FOR THE KENNY CAFFEY SYNDROME
    Bruce Gelb; Fiscal Year: 2000
    ..KCS is an osteosclerotic bone dysplasia with associated hypocalcemia, often accompanied by hypoparathyroidism, ocular anomalies, mental retardation, and immunodeficiency...
  11. IL-6 AND ESTROGEN AND PTH INDUCED BONE RESORPTION
    Urszula Masiukiewicz; Fiscal Year: 2002
    ..have recently shown that circulating levels of IL-6 are elevated in states of parathyroid excess, are low in hypoparathyroidism, and correlate strongly with markers of bone resorption in patients with primary hyperparathyroidism...
  12. MOLECULAR ASPECTS OF VELO-CARDIO-FACIAL SYNDROME
    Raju Kucherlapati; Fiscal Year: 2004
    ..palate, pharyngeal insufficiency, cardiac and conotruncal abnormalities that result from thymic asplasia and hypoparathyroidism. As the children grow, they exhibit learning disabilities and older individuals develop psychiatric illness...
  13. TWO X-LINKED GENES THAT REGULATE MINERAL HOMEOSTASIS
    Michael Whyte; Fiscal Year: 2002
    ..Specifically, the genetic defects cause X-linked recessive idiopathic hypoparathyroidism (XHPT) and X-linked hypophosphatemia (XLH). The XHPT locus has been narrowed to a 1...
  14. CLONING OF THE PSEUDOHYPOPARATHYROIDISM TYPE 1B GENE
    Michael Levine; Fiscal Year: 2003
    Pseudohypoparathyroidism (PHP) type 1 is an autosomal dominant disorder characterized by biochemical hypoparathyroidism due to resistance of target tissues to parathyroid hormone (PTH)...
  15. INTERACTION BETWEEN PARATHYROID HORMONE AND ITS RECEPTOR
    Robert Gensure; Fiscal Year: 2001
    ..information obtained will aid in the development of nonpeptide agonists and/or antagonists that may gain clinical significance in treating osteoporosis or the various forms of hyperparathyroidism and hypoparathyroidism.
  16. Circulating Osteoblast Lineage Cells in Hypoparathyroidism
    Mishaela Rubin; Fiscal Year: 2008
    unreadable] DESCRIPTION (provided by applicant): [unreadable] Hypoparathyroidism is an uncommon disorder in which parathyroid hormone (PTH) is absent from the circulation...
  17. Bone Quality in Hypoparathyroidism: Effects of PTH
    Mishaela Rubin; Fiscal Year: 2008
    b>Hypoparathyroidism is one of the few remaining hormonal deficiency states for which replacement with the missing hormone has been unavailable...
  18. Radioactive Iodide Therapy of Pediatric Graves' Disease
    Scott A Rivkees; Fiscal Year: 2010
    ....
  19. Adenosinergic Mechanisms of Intrauterine Growth Retardation
    Scott A Rivkees; Fiscal Year: 2010
    ..The goals of this proposal are to identify the mechanisms by which adenosine acts to protect the embryo in utero and how altered embryonic adenosine action leads to long-term adverse effects in adulthood. ..
  20. Anti-Adenosine Therapy of Neonatal Brain Injury
    Scott Rivkees; Fiscal Year: 2007
    ..It is anticipated that these studies will lead to novel and practical strategies for directly preventing brain injury. [unreadable] [unreadable]..
  21. CB1 Receptor Action on the Developing Hippocampus
    Scott Rivkees; Fiscal Year: 2005
    ..We anticipate that these studies will result in new insights into the potential effects of cannabinoid action on the developing brain. ..
  22. DEVELOPING CIRCADIAN RHYTHMICITY
    Scott Rivkees; Fiscal Year: 2002
    ..These studies may also lead to the development of new care practices in Neonatal Intensive Care Units and extend the field of developmental chronobiology to the bedside. ..
  23. A1-ADENOSINE RECEPTOR ACTION IN HIPPOCAMPUS
    Scott Rivkees; Fiscal Year: 2003
    ..We anticipate these studies will lead to new insights into the mechanisms of A1AR action. We also anticipate that these studies will identify A1ARs as an important regulator of axon growth. ..
  24. Vaccine therapy of congenital adrenal Hyperplasia
    Scott Rivkees; Fiscal Year: 2003
    ..We also anticipate being able to extend this novel approach to the treatment of other receptor-mediated endocrine disorders, such as hyperthyroidism. ..
  25. The Role of Adenosine in Hypoglycemic Brain Injury
    Scott Rivkees; Fiscal Year: 2003
    ..We anticipate that these studies will yield new insights into the mechanisms of hypoglycemic brain injury and may lead to the development of practical strategies for reducing hypoglycemic brain injury. ..
  26. A-1 Adenosine Receptor Action in Developing Heart
    Scott Rivkees; Fiscal Year: 2005
    ..We anticipate that these studies will identify Rho and ROCK as critical signaling molecules in heart development and reveal that cardiac GTPase activity transduces the effects of adenosine. ..
  27. Targeting Bone Remodeling For the Treatment of Osteoporosis
    John Bilezikian; Fiscal Year: 2008
    ..The purpose of this meeting is to bring together experts from these interdisciplinary fields so as to define the direction of the future. ..
  28. Phase I Serum-free cultured thymus transplantation in DiGeorge anomaly, IND9836,
    MARY MARKERT; Fiscal Year: 2009
    ..The focus of these experiments is the development of thymopoiesis and normal presentation of promiscuously expressed antigens in the thymus. ..
  29. Dose Study of thymus Transplantation
    MARY MARKERT; Fiscal Year: 2007
    ..Abstract Not Provided. ..
  30. Dynamics of TCR Repertoire Following Thymus Transplant
    MARY MARKERT; Fiscal Year: 2008
    ..These findings will have application to thymus and bone marrow transplantation for immunodeficiency and cancer. ..
  31. Parathyroid and Thymus Transplants in DiGeorge Syndrome
    MARY MARKERT; Fiscal Year: 2005
    ..Under this protocol, four children with complete DiGeorge syndrome and hypoparathyroidism will be treated with allogeneic postnatal thymus transplantation in conjunction with parental parathyroid ..
  32. TNF Alpha In Inflammation
    Kathleen Sullivan; Fiscal Year: 2008
    ..Overall, this proposal will define the mechanisms underlying repression of the TNF alpha locus. [unreadable] [unreadable]..
  33. Role of FGF-23 in Regulation of Phosphate Homeostasis
    Suzanne Jan de Beur; Fiscal Year: 2004
    ..Elucidating the molecular mechanism by which FGF-23 causes renal phosphate wasting will contribute substantially to our understanding of the role of FGF-23 in phosphate homeostasis. ..
  34. Biology of Headpin (a novel serpin) in Oral Cancer
    Gary Clayman; Fiscal Year: 2006
    ..Progress in this area could lead to development of new molecular based targets for the management of oral cancer. ..
  35. PHARMACOLOGY OF BOVINE PARATHYROID CA++ RECEPTORS
    Edward M Brown; Fiscal Year: 2002
    ....
  36. Tools for mapping transcriptional networks
    Uri Alon; Fiscal Year: 2006
    ..We expect that the analysis tools and concepts developed in E. coli will be very useful in mapping complex regulatory circuits in other cell types. [unreadable] [unreadable]..
  37. Immune Complex Stimulation of TNFalpha
    Kathleen Sullivan; Fiscal Year: 2007
    ..In the third aim, we will define the role of chromatin in the regulation of responses to immune complexes. ..
  38. PHOSPHOTONIN--A NOVEL PHOSPHATE REGULATORY HORMONE
    Suzanne Jan de Beur; Fiscal Year: 2003
    ..abstract_text> ..
  39. DESENSITIZATION AND DOWN REGULATION OF CALCIUM RECEPTORS
    Dolores Shoback; Fiscal Year: 2002
    ..Our studies should provide insights into mechanisms underlying CaR responsiveness in secretion and growth. ..
  40. CA2+-RECEPTOR: IMMUNE MODULATION IN VIVO AND IN VITRO
    Edward M Brown; Fiscal Year: 2007
    ..individuals with activating antibodies to the receptor, who have a biochemical picture compatible with hypoparathyroidism. The overall goal of this proposal is to document that activating and inactivating CaR antibodies can cause ..
  41. INHIBITION OF PTH SECRETION: CaR AND THE CYTOSKELETON
    Edward M Brown; Fiscal Year: 2007
    ..Phosphorylation of caveolin-1 under high Ca 2+ conditions may anchor the CaR-PTH unit to the plasma membrane, limiting PTH secretion. ..
  42. CA2+ RECEPTOR, PTHRP & MALIGNANCY-INDUCED OSTEOLYSIS
    Edward M Brown; Fiscal Year: 2004
    ..abstract_text> ..
  43. CALCIUM RECEPTOR SIGNAL RECOGNITION AND TRANSDUCTION
    Edward M Brown; Fiscal Year: 2006
    ..abstract_text> ..