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Pseudohypoparathyroidism

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https://www.readbyqxmd.com/read/27901178/hypoparathyroidism-and-pseudohypoparathyroidism-etiology-laboratory-features-and-complications
#1
Maicon Piana Lopes, Breno S Kliemann, Ileana Borsato Bini, Rodrigo Kulchetscki, Victor Borsani, Larissa Savi, Victoria Z C Borba, Carolina A Moreira
Objectives: To identify a clinical profile and laboratory findings of a cohort of hypoparathyroidism patients and determine the prevalence and predictors for renal abnormalities. Materials and methods: Data from medical records of five different visits were obtained, focusing on therapeutic doses of calcium and vitamin D, on laboratory tests and renal ultrasonography (USG). Results: Fifty-five patients were identified, 42 females and 13 males; mean age of 44...
November 24, 2016: Archives of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/27882740/sporadic-pseudohypoparathyroidism-type-1b-with-asymptomatic-hypocalcemia
#2
Motohide Goto, Yukiyo Yamamoto, Masahiro Ishii, Akie Nakamura, Shinichiro Sano, Masayo Kagami, Maki Fukami, Reiko Saito, Shunsuke Araki, Kazuyasu Kubo, Rinko Kawagoe, Yasusada Kawada, Koichi Kusuhara
Pseudohypoparathyroidism type 1b (PHP-1b) is usually diagnosed on various symptoms of hypocalcemia. Previous studies reported a few cases of autosomal dominant pattern PHP-1b identified on familial analysis with asymptomatic hypocalcemia. Herein we report the case of a 6-year-old male patient with sporadic PHP-1b incidentally detected on preoperative examination. He had neither characteristic findings of Albright hereditary osteodystrophy nor evidence of tetany. Sporadic PHP-1b was diagnosed on the basis of clinical observation and laboratory examination...
November 2016: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/27875418/nonclassic-features-of-pseudohypoparathyroidism-type-1a
#3
Ashley H Shoemaker, Harald Jüppner
PURPOSE OF REVIEW: To provide readers with a review of contemporary literature describing the evolving understanding of the pseudohypoparathyroidism type 1A (PHP1A) phenotype. RECENT FINDINGS: The classic features of PHP1A include multihormone resistance and the Albright Hereditary Osteodystrophy phenotype (round facies, short stature, subcutaneous ossifications, brachydactyly, and early-onset obesity. Obesity may be because of a decrease in resting energy expenditure because most patients do not report significant hyperphagia...
November 21, 2016: Current Opinion in Endocrinology, Diabetes, and Obesity
https://www.readbyqxmd.com/read/27871293/genetic-and-epigenetic-alterations-in-the-gnas-locus-and-clinical-consequences-in-pseudohypoparathyroidism-italian-common-healthcare-pathways-adoption
#4
L de Sanctis, F Giachero, G Mantovani, G Weber, M Salerno, G I Baroncelli, M F Elli, P Matarazzo, M Wasniewska, L Mazzanti, G Scirè, D Tessaris
BACKGROUND: Genetic and epigenetic alterations in the GNAS locus are responsible for the Gsα protein dysfunctions causing Pseudohypoparathyroidism (PHP) type Ia/c and Ib, respectively. For these heterogeneous diseases characterized by multiple hormone resistances and Albright's Hereditary Osteodystrophy (AHO) the current classification results inadequate because of the clinical overlap between molecular subtypes and a standard clinical approach is still missing. In the present paper several members of the Study Group Endocrine diseases due to altered function of Gsα protein of the Italian Society of Pediatric Endocrinology and Diabetology (ISPED) have reviewed and updated the clinical-molecular data of the largest case series of (epi)/genetically characterized AHO/PHP patients; they then produced a common healthcare pathway for patients with these disorders...
November 21, 2016: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/27859596/osteosarcoma-in-a-patient-with-pseudohypoparathyroidism-type-1b-due-to-paternal-uniparental-disomy-of-chromosome-20q
#5
Hye-Sun Park, Chang Gon Kim, Namki Hong, Seok Joo Lee, Da Hea Seo, Yumie Rhee
It is assumed that a persistent high level of parathyroid hormone (PTH) might have a relation with bone malignancy. However, there has been no report of osteosarcoma associated with pseudohypoparathyroidism type 1b (PHP1b), which is accompanied by high PTH. PHP1b is the result of resistance to PTH in certain end-organ tissues, especially the kidney; the response in bone is unaffected because it normally expresses stimulatory G protein equally from both parental alleles. A 21-year-old male, presenting with gum swelling at the right mandible, was referred to a dental clinic...
November 18, 2016: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/27857805/neuropsychiatric-phenotype-in-a-child-with-pseudohypoparathyroidism
#6
Paola Visconti, Annio Posar, Maria Cristina Scaduto, Angelo Russo, Federica Tamburrino, Laura Mazzanti
Pseudohypoparathyroidism (PHP) is a rare heterogeneous genetic disease characterized by end-organ resistance to parathyroid hormone. In adulthood, heterogeneous neurological and psychiatric disorders have been reported which are associated with hypoparathyroidism in general and with PHP in particular, while for childhood, data are scanty. We report a case of a boy with PHP type 1b, in whom neurological signs at the onset prevailed, characterized by tic-like dyskinesias associated with a series of heterogeneous not well-defined neurological and behavioral features, describing the diagnostic work-up performed and the follow-up...
July 2016: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/27813477/-genes-in-the-camp-pathway-causing-skeletal-dysplasia-with-or-without-hormonal-resistance
#7
Caroline Silve
Acrodysostosis refers to a heterogeneous group of rare skeletal dysplasia that share characteristic features including severe brachydactyly, facial dysostosis and nasal hypoplasia. The literature describing acrodysostosis cases has been confusing because some reported patients may have had other phenotypically related diseases presenting Albright Hereditary Osteodystrophy (AHO) such as pseudohypoparathyroidism type 1a (PHP1a) or pseudopseudohypoparathyroidism (PPHP). A question has been whether patients display or not abnormal mineral metabolism associated with resistance to PTH and/or resistance to other hormones that bind G-protein coupled receptors (GPCR) linked to Gsa, as observed in PHP1a...
2016: Biologie Aujourd'hui
https://www.readbyqxmd.com/read/27739274/hypocalcemic-cardiomyopathy-and-pseudohypoparathyroidism-due-to-severe-vitamin-d-deficiency
#8
C M Batra, Rajiv Agarwal
Hypocalcemic cardiomyopathy is a rare entity. We describe a patient with severe heart failure, decreased ejection fraction and global hypokinesia documented on echocardiogram, associated with severe hypocalcemia, very low vitamin D status, increased QT intervals, increased BNP (serum brain natriuretic peptide) levels and CPK (creatine phosphokinase) levels. All these defects reversed on treatment with vitamin D and calcium within a few days without any specific cardiac intervention.
June 2016: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/27703483/the-association-of-pseudohypoparathyroidism-type-ia-with-chiari-malformation-type-i-a-coincidence-or-a-common-link
#9
Paria Kashani, Madan Roy, Linda Gillis, Olufemi Ajani, M Constantine Samaan
A 19-month-old boy was referred for progressive weight gain. His past medical history included congenital hypothyroidism and developmental delay. Physical examination revealed characteristics of Albright Hereditary Osteodystrophy, macrocephaly, and calcinosis cutis. He had hypocalcemia, hyperphosphatemia, and elevated Parathyroid Hormone levels. Genetic testing revealed a known mutation of GNAS gene, confirming the diagnosis of Pseudohypoparathyroidism Type Ia (PHP-Ia) (c.34C>T (p.G1n12X)). He had a normal brain MRI at three months, but developmental delay prompted a repeat MRI that revealed Chiari Malformation Type I (CM-I) with hydrocephalus requiring neurosurgical intervention...
2016: Case Reports in Medicine
https://www.readbyqxmd.com/read/27608698/families-of-pseudohypoparathyroidism-presenting-as-seizure
#10
N Nand, S Aggarwal, M Yadav, S Dsouza, A R Deshmukh
Pseudohypoparathyroidism (PHP) is a heterogeneous group of disorders characterized by variable insensitivity to parathyroid hormone. We describe two cases of 22 year male and 24 year female who have typical clinical features of Albright's hereditary osteodystrophy (AHO). Laboratory investigation revealed evidence of pseudohypoparathyroidism and skeletal survey showed shortening of the metacarpals and metatarsals.
October 2015: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/27579188/a-novel-t55a-variant-of-gs-%C3%AE-associated-with-impaired-camp-production-bone-fragility-and-osteolysis
#11
Kelly Wentworth, Alyssa Hsing, Ashley Urrutia, Yan Zhu, Andrew E Horvai, Murat Bastepe, Edward C Hsiao
G-protein coupled receptors (GPCRs) mediate a wide spectrum of biological activities. The GNAS complex locus encodes the stimulatory alpha subunit of the guanine nucleotide binding protein (Gsα) and regulates production of the second messenger cyclic AMP (cAMP). Loss-of-function GNAS mutations classically lead to Albright's Hereditary Osteodystrophy (AHO) and pseudohypoparathyroidism, often with significant effects on bone formation and mineral metabolism. We present the case of a child who exhibits clinical features of osteolysis, multiple childhood fractures, and neonatal SIADH...
2016: Case Reports in Endocrinology
https://www.readbyqxmd.com/read/27544718/a-novel-splice-site-mutation-of-fgd1-gene-in-an-aarskog-scott-syndrome-patient-with-a-large-anterior-fontanel
#12
Erhan Parıltay, Filiz Hazan, Esra Ataman, Korcan Demir, Özdal Etlik, Erhan Özbek, Behzat Özkan
Aarskog-Scott syndrome (ASS) is a rare X-linked recessive genetic disorder caused by FGD1 mutations. FGD1 regulates the actin cytoskeleton and regulates cell growth and differentiation by activating the c-Jun N-terminal kinase signaling cascade. ASS is characterized by craniofacial dysmorphism, short stature, interdigital webbing and shawl scrotum. However, there is a wide phenotypic heterogeneity because of the additional clinical features. ASS and some syndromes including the autosomal dominant inherited form of Robinow syndrome, Noonan syndrome, pseudohypoparathyroidism, Silver-Russel and SHORT syndrome have some overlapping phenotypic features...
September 1, 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/27492110/cataract-in-pseudohypoparathyroidism
#13
Rafael S Grajewski, Konrad R Koch, Hans-Reinhard Koch, Iulia M Ciotu, Claus Cursiefen, Ludwig M Heindl
UNLABELLED: A 22-year-old white man presented with photopsia of 3-year duration despite a corrected distance visual acuity of 20/20 in both eyes. Ophthalmic examination revealed multiple irregularly shaped white cortical opacifications of the lens in both eyes but no other significant ocular findings. One year after the photopsia onset, the patient experienced an episode of seizures with generalized tonic-clonic movements. Neurological follow-up examination demonstrated extensive brain calcification in the basal ganglia and frontal lobes, leading to a diagnosis of pseudohypoparathyroidism...
July 2016: Journal of Cataract and Refractive Surgery
https://www.readbyqxmd.com/read/27467896/pseudohypoparathyroidism-type-ia-subclinical-hypothyroidism-and-rapid-weight-gain-weight-as-early-clinical-signs-a-clinical-study-of-10-cases
#14
Simon Kayemba-Kay's, Cedric Tripon, Anne Heron, Peter Hindmarsh
OBJECTIVE: Objectives: To evaluate clinical signs and symptoms that would help clinicians to consider PHP type IA as a diagnosis in a child. METHODS: Population & Methods: Retrospective review of medical records of children diagnosed (Erythrocyte Gsα activity and/or GNAS1 gene study) and followed-up for PHP Type IA. Clinical and biochemical parameters along with epidemiological data were extracted and analyzed. Weight gain during infancy and early childhood was calculated as change in weight SDS compared to the French growth reference...
July 28, 2016: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/27428667/the-prevalence-of-gnas-deficiency-related-diseases-in-a-large-cohort-of-patients-characterized-by-the-europhp-network
#15
Francesca Marta Elli, Agnès Linglart, Intza Garin, Luisa de Sanctis, Paolo Bordogna, Virginie Grybek, Arrate Pereda, Federica Giachero, Elisa Verrua, Patrick Hanna, Giovanna Mantovani, Guiomar Perez de Nanclares
CONTEXT: The term pseudohypoparathyroidism (PHP) was coined to describe the clinical condition resulting from end-organ resistance to parathormone (rPTH), caused by genetic and/or epigenetic alterations within or upstream of GNAS. Though knowledge about PHP is growing, there are few data on the prevalence of underlying molecular defects. OBJECTIVE: The purpose of our study was to ascertain the relative prevalence of PHP-associated molecular defects. DESIGN: With a specially designed questionnaire, we collected data from all patients (n=407) clinically and molecularly characterized to date by expert referral centres in France, Italy and Spain...
July 18, 2016: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/27425121/longitudinal-observation-in-a-turkish-girl-with-pseudohypoparathyroidism-type-ia-caused-by-a-novel-heterozygous-mutation-of-the-gnas-gene
#16
Sezgin Sahin, Olaf Hiort, Susanne Thiele, Olcay Evliyaoğlu, Beyhan Tüysüz
Pseudohypoparathyroidism-Ia is characterized by multihormone resistance and Albright hereditary osteodystrophy phenotype. It is caused by heterozygous mutations in GNAS gene. Clinical and biochemical findings of the patient were evaluated between 6.5 years and 14.5 years of age. The girl had short stature, brachydactyly and subcutaneous heterotopic ossification. Serum calcium and phosphorus levels were normal, but parathyroid hormone levels were high. Based on the typical clinical findings of AHO phenotype and biochemical findings, she was diagnosed as having PHP-Ia...
July 18, 2016: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/27415614/pseudohypoparathyroidism-type-i-b-with-neurological-involvement-is-associated-with-a-homozygous-pth1r-mutation
#17
R Guerreiro, J Brás, S Batista, P Pires, M H Ribeiro, M R Almeida, C Oliveira, J Hardy, I Santana
Pseudohypoparathyroidism type 1b (PHP1b) is characterized by hypocalcemia, hyperphosphatemia, increased levels of circulating parathyroid hormone (PTH), and no skeletal or developmental abnormalities. The goal of this study was to perform a full characterization of a familial case of PHP1b with neurological involvement and to identify the genetic cause of disease. The initial laboratory profile of the proband showed severe hypocalcemia, hyperphosphatemia and normal levels of PTH, which was considered to be compatible with primary hypoparathyroidism...
September 2016: Genes, Brain, and Behavior
https://www.readbyqxmd.com/read/27401862/from-pseudohypoparathyroidism-to-inactivating-pth-pthrp-signalling-disorder-ippsd-a-novel-classification-proposed-by-the-european-europhp-network
#18
Susanne Thiele, Giovanna Mantovani, Anne Barlier, Valentina Boldrin, Paolo Bordogna, Luisa de Sanctis, Francesca Elli, Kathleen Freson, Intza Garin, Virginie Grybek, Patrick Hanna, Benedetta Izzi, Olaf Hiort, Beatriz Lecumberri, Arrate Pereda, Vrinda Saraff, Caroline Silve, Serap Turan, Alessia Usardi, Ralf Werner, Guiomar Perez de Nanclares, Agnès Linglart
OBJECTIVE: Disorders caused by impairments in the parathyroid hormone (PTH) signalling pathway are historically classified under the term pseudohypoparathyroidism (PHP), that encompasses rare, related but highly heterogeneous diseases with demonstrated (epi)genetic causes. The actual classification is based on the presence or absence of specific clinical and biochemical signs together with an in vivo response to exogenous PTH and the results of an in vitro assay to measure Gsa protein activity...
July 11, 2016: European Journal of Endocrinology
https://www.readbyqxmd.com/read/27390678/intracranial-cortical-calcifications-in-a-focal-epilepsy-patient-with-pseudohypoparathyroidism
#19
Ye Sel Kim, Jihyung Park, Yoonkyung Park, KyoungJin Hwang, Dae Lim Koo, Daeyoung Kim, Dae-Won Seo
Patients with chronic parathyroid dysfunction often have intracranial calcification in deep gray matter (GM) and subcortical white matter (WM) of their brain. Some of them are also epilepsy patients. Although cortical etiologies are main cause of epileptic seizure, cortical calcification has not been reported in these patients. We report a newly diagnosed focal epilepsy patient whose brain magnetic resonance imaging revealed intracranial calcifications in cortical as well as subcortical areas. Blood lab revealed that he had hypocalcemia due to pseudohypoparathyroidism...
June 2016: Journal of Epilepsy Research
https://www.readbyqxmd.com/read/27338644/macrosomia-obesity-and-macrocephaly-as-first-clinical-presentation-of-php1b-caused-by-stx16-deletion
#20
Iris M de Lange, Annemarie A Verrijn Stuart, Rob B van der Luijt, Hans Kristian Ploos van Amstel, Mieke M van Haelst
Pseudohypoparathyroidism (PHP) is a genetic disorder with resistance to parathyroid hormone (PTH) as most important feature. Main subtypes of the disease are pseudohypoparathyroidism 1b (PHP1b) and pseudohypoparathyroidism 1a (PHP1a). PHP1b is characterized by PTH resistance of the renal cortex due to reduced activity of the stimulatory G protein α subunit (Gsα) of the PTH receptor. In addition to resistance to PTH, PHP1a patients also lack sensitivity for other hormones that signal their actions through G protein-coupled receptors and display physical features of Albright hereditary osteodystrophy (AHO), which is not classically seen in PHP1b patients...
September 2016: American Journal of Medical Genetics. Part A
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