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Pseudohypoparathyroidism

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https://www.readbyqxmd.com/read/29895021/metabolic-syndrome-in-parathyroid-diseases
#1
Sabrina Corbetta, G Mantovani, A Spada
Parathyroid glands are the main regulator of body mineral metabolism through parathormone (PTH) actions on bone and kidney. Experimental evidence suggests that PTH may have non-classical target organs such as adipose tissue, arterial vascular wall, cardiac muscle cells, and adrenal cortex cells, where it may play a role in controlling body energy, blood pressure, and metabolism. Cardiometabolic features have been investigated in the wide spectrum of clinical parathyroid disorders, from hyperparathyroidism to pseudohypoparathyroidism and hypoparathyroidism...
2018: Frontiers of Hormone Research
https://www.readbyqxmd.com/read/29806686/-pseudohypoparathyroidism-report-of-two-cases-of-late-presentation
#2
Carolina Peña, Constanza Pinochet, Pablo Florenzano, Carolina Mendoza, Carolina Garfias, Marcela Aracena, Cecilia Mellado, Gilberto González
Pseudohypoparathyroidism (PHP) is a group of rare genetic disorders that share organ targeted resistance to the action of parathyroid hormone (PTH) as a common feature. Biochemically, they may present with hypocalcemia, hyperphosphatemia and elevated PTH. Some forms present with a specific phenotype: short stature, round facies, short neck, obesity, brachydactyly and subcutaneous calcifications, called Albrigth's Hereditary Osteodystrophy (AHO). This spectrum of disorders are caused by several alterations in the gene coding for the alpha subunit of the G protein (GNAS): an ubiquitous signaling protein that mediates the action of numerous hormones such as PTH, TSH, gonadotropins, and ACTH, among others...
January 2018: Revista Médica de Chile
https://www.readbyqxmd.com/read/29796323/identification-of-a-novel-mutation-in-a-family-with-pseudohypoparathyroidism-type-1a
#3
Adelaide Moutinho, Rosa Carvalho, Rita Ferreira Reis, Sandra Tavares
Introduction: Pseudohypoparathyroidism type 1a is caused by GNAS mutations leading to target organ resistance to multiple hormones rather than parathyroid hormone, resulting not only in hypocalcemia, but also in Albright's hereditary osteodystrophy phenotype. Materials and Methods: DNA sequencing of the GNAS gene identified a novel heterozygous mutation in peripheral blood leukocytes in the family presented in this case report. Results: We present a case of a 25-year-old woman with pseudohypoparathyroidism type 1a admitted with seizures, whose family presents an autosomal dominant transmission of a novel heterozygous GNAS mutation (c...
2018: Case Reports in Endocrinology
https://www.readbyqxmd.com/read/29699796/prevalence-of-nephrocalcinosis-in-pseudohypoparathyroidism-is-screening-necessary
#4
David W Hansen, Todd D Nebesio, Linda A DiMeglio, Erica A Eugster, Erik A Imel
The prevalence of nephrocalcinosis in persons with pseudohypoparathyroidism has not been systematically examined. We conducted a retrospective study of renal imaging and biochemical results in 19 patients with pseudohypoparathyroidism with 49 imaging assessments. No cases of nephrocalcinosis were identified. Routine screening for nephrocalcinosis in pseudohypoparathyroidism may not be necessary.
April 23, 2018: Journal of Pediatrics
https://www.readbyqxmd.com/read/29693731/genetic-and-epigenetic-defects-at-the-gnas-locus-lead-to-distinct-patterns-of-skeletal-growth-but-similar-early-onset-obesity
#5
Patrick Hanna, Virginie Grybek, Guiomar Perez de Nanclares, Léa C Tran, Luisa de Sanctis, Francesca Elli, Javier Errea, Bruno Francou, Peter Kamenicky, Léa Linglart, Arrate Pereda, Anya Rothenbuhler, Daniele Tessaris, Susanne Thiele, Alessia Usardi, Ashley H Shoemaker, Marie-Laure Kottler, Harald Jüppner, Giovanna Mantovani, Agnès Linglart
Pseudohypoparathyroidism type 1A (PHP1A), pseudoPHP (PPHP), and PHP type 1B (PHP1B) are caused by maternal and paternal GNAS mutations and abnormal methylation at maternal GNAS promoter(s), respectively. Adult PHP1A patients are reportedly obese and short, whereas most PPHP patients are born small. In addition to parathyroid hormone (PTH) resistance, PHP1A and PHP1B patients may display early-onset obesity. Because early-onset and severe obesity and short stature are daily burdens for PHP1A patients, we aimed at improving knowledge on the contribution of the GNAS transcripts to fetal and postnatal growth and fat storage...
April 25, 2018: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/29678282/multiple-hormone-resistance-and-alterations-of-g-protein-coupled-receptors-signaling
#6
REVIEW
Mantovani Giovanna, Elli Francesca Marta
Metabolic disorders deriving from the non-responsiveness of target organs to hormones, which manifest clinically similar to the deficiency of a given hormone itself, derive from molecular alterations affecting specific hormone receptors. Pseudohypoparathyroidism (PHP) and related disorders exemplify an unusual form of hormone resistance as the underlying molecular defect is a partial deficiency of the α subunit of the stimulatory G protein (Gsα), a key regulator of cAMP signaling pathway, or, as more recently described, of downstream effector proteins of the same pathway, such as PKA regulatory subunit 1A (R1A) and phosphodyestarase type 4D (PDE4D)...
April 2018: Best Practice & Research. Clinical Endocrinology & Metabolism
https://www.readbyqxmd.com/read/29628140/disease-causing-mutations-in-the-g-protein-g%C3%AE-s-subvert-the-roles-of-gdp-and-gtp
#7
Qi Hu, Kevan M Shokat
The single most frequent cancer-causing mutation across all heterotrimeric G proteins is R201C in Gαs. The current model explaining the gain-of-function activity of the R201 mutations is through the loss of GTPase activity and resulting inability to switch off to the GDP state. Here, we find that the R201C mutation can bypass the need for GTP binding by directly activating GDP-bound Gαs through stabilization of an intramolecular hydrogen bond network. Having found that a gain-of-function mutation can convert GDP into an activator, we postulated that a reciprocal mutation might disrupt the normal role of GTP...
May 17, 2018: Cell
https://www.readbyqxmd.com/read/29520810/health-related-quality-of-life-in-patients-with-nonsurgical-hypoparathyroidism-and-pseudohypoparathyroidism
#8
L Underbjerg, T Sikjaer, L Rejnmark
OBJECTIVE: Nonsurgical hypoparathyroidism (NS-HypoPT) and pseudohypoparathyroidism (PHP) are rare diseases, with a prevalence of 2/100.000 and 1/100.000, respectively. Only few studies on Quality of Life (QoL) among patients with Ns-HypoPT and PHP are available. We aimed to investigate the QoL among patients with Ns-HypoPT and PHP including information about education. DESIGN: A cohort study with patients identified from a previously epidemiological study. PATIENTS: Fifty seven patients with Ns-HypoPT and 30 patients with PHP...
March 9, 2018: Clinical Endocrinology
https://www.readbyqxmd.com/read/29499646/what-to-consider-when-pseudohypoparathyroidism-is-ruled-out-ippsd-and-differential-diagnosis
#9
Arrate Pereda, Intza Garin, Guiomar Perez de Nanclares
BACKGROUND: Pseudohypoparathyroidism (PHP) is a rare disease whose phenotypic features are rather difficult to identify in some cases. Thus, although these patients may present with the Albright's hereditary osteodystrophy (AHO) phenotype, which is characterized by small stature, obesity with a rounded face, subcutaneous ossifications, mental retardation and brachydactyly, its manifestations are somewhat variable. Indeed, some of them present with a complete phenotype, whereas others show only subtle manifestations...
March 2, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29474689/pseudohypoparathyroidism-type-1a
#10
M Singla, G Garg, A Gupta
No abstract text is available yet for this article.
May 1, 2018: QJM: Monthly Journal of the Association of Physicians
https://www.readbyqxmd.com/read/29469727/painful-subcutaneous-nodules-on-the-thigh
#11
Bridget P Kaufman, Rachel Marchalik, Kyle Cheng, Scott A Norton
Osteoma cutis is the presence of bone within the dermis or subcutaneous tissue. This condition may occur sporadically or secondary to other dermatologic or genetic conditions. We present a 12-year-old girl with pseudohypoparathyroidism type-Ia who developed osteoma cutis on the right thigh.
September 15, 2017: Dermatology Online Journal
https://www.readbyqxmd.com/read/29464731/progressive-osseous-heteroplasia-caused-by-a-mosaic-gnas-mutation
#12
LETTER
Arrate Pereda, Jose Maria Martos-Tello, Intza Garin, Javier Errea-Dorronsoro, Guiomar Perez de Nanclares
No abstract text is available yet for this article.
February 21, 2018: Clinical Endocrinology
https://www.readbyqxmd.com/read/29455209/obstructive-sleep-apnea-and-otolaryngologic-manifestations-in-children-with-pseudohypoparathyroidism
#13
Kathleen L Curley, Sachini Kahanda, Katia M Perez, Beth A Malow, Ashley H Shoemaker
BACKGROUND/AIMS: Pseudohypoparathyroidism (PHP) is a rare, genetic disorder. Patients with PHP may have increased prevalence of obstructive sleep apnea (OSA) but this has not been prospectively studied. METHODS: We enrolled children aged 6-18 years with PHP and matched controls. Evaluation included physical examination, medical history, and polysomnography. RESULTS: Fifteen children with PHP type 1A (PHP1A) and 15 controls completed the study...
2018: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/29445425/mosaicism-for-gnas-methylation-defects-associated-with-pseudohypoparathyroidism-type-1b-arose-in-early-post-zygotic-phases
#14
Francesca Marta Elli, Paolo Bordogna, Maura Arosio, Anna Spada, Giovanna Mantovani
Background: Pseudohypoparathyroidism type 1B (PHP1B; MIM#603233) is a rare imprinting disorder (ID), associated with the GNAS locus, characterized by parathyroid hormone (PTH) resistance in the absence of other endocrine or physical abnormalities. Sporadic PHP1B cases, with no known underlying primary genetic lesions, could represent true stochastic errors in early embryonic maintenance of methylation. Previous data confirmed the existence of different degrees of methylation defects associated with PHP1B and suggested the presence of mosaicism, a phenomenon already described in the context of other IDs...
2018: Clinical Epigenetics
https://www.readbyqxmd.com/read/29417303/pseudohypoparathyroidism-type-1b-in-a-patient-conceived-by-in-vitro-fertilization-another-imprinting-disorder-reported-with-assisted-reproductive-technology
#15
REVIEW
Nicholas J Goel, Laura L Meyers, Myrto Frangos
Pseudohypoparathyroidism type 1B (PHP1B) is characterized by renal tubular resistance to parathyroid hormone (PTH) leading to hyperphosphatemia, hypocalcemia, elevated PTH, and hyperparathyroid bone changes. PHP1B is an imprinting disorder that results from loss of methylation at the maternal GNAS gene, which suppresses transcription of the alpha subunit of the stimulatory G protein of the PTH receptor. Emerging evidence supports an association between assisted reproductive technologies (ART) and imprinting disorders; however, there is currently little evidence linking PHP1B and ART...
February 7, 2018: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/29387507/classic-and-non-classic-features-in-pseudohypoparathyroidism-case-study-and-brief-literature-review
#16
Aaron R Kuzel, Muhammad Uzair Lodhi, Mustafa Rahim
Pseudohypoparathyroidism is a rare condition that is due to a defect in the stimulatory G-protein coupled receptor, resulting in end-organ resistance to parathyroid hormone. Hereditary forms of pseudohypoparathyroidism present with certain classic features such as obesity, short stature, brachydactyly, and intellectual disability. Constellation of these physical features is known as Albright's hereditary osteodystrophy. In this case, 41-year-old male presented with the classic features of pseudohypoparathyroidism and with 59 lbs weight gain over six months...
November 26, 2017: Curēus
https://www.readbyqxmd.com/read/29379892/-epi-genotype-phenotype-analysis-in-69-japanese-patients-with-pseudohypoparathyroidism-type-i
#17
Shinichiro Sano, Akie Nakamura, Keiko Matsubara, Keisuke Nagasaki, Maki Fukami, Masayo Kagami, Tsutomu Ogata
Context: Pseudohypoparathyroidism type I (PHP-I) is divided into PHP-Ia with Albright hereditary osteodystrophy and PHP-Ib, which usually shows no Albright hereditary osteodystrophy features. Although PHP-Ia and PHP-Ib are typically caused by genetic defects involving α subunit of the stimulatory G protein (Gs α )-coding GNAS exons and methylation defects of the GNAS differentially methylated regions (DMRs) on the maternal allele, respectively, detailed phenotypic characteristics still remains to be examined...
January 1, 2018: Journal of the Endocrine Society
https://www.readbyqxmd.com/read/29320763/a-de-novo-50-bp-gnas-intragenic-duplication-in-a-patient-with-pseudohypoparathyroidism-type-1a
#18
Erina Suzuki, Ryosuke Bo, Kaori Sue, Hiroyuki Awano, Tsutomu Ogata, Satoshi Narumi, Masayo Kagami, Shinichiro Sano, Maki Fukami
Germline intragenic mutations in the GNAS locus result in pseudohypoparathyroidism type 1a (PHP1a) and related conditions. Nearly half of the previously reported GNAS intragenic mutations were structural variants, including 3 tandem duplications of 12-25 bp. However, the precise mutation spectrum and the genomic basis of GNAS structural variants remain to be clarified. Here, we report a de novo 50-bp tandem duplication in GNAS (c.723_772dup50, p.Glu259Leufs*29) identified in a patient with typical clinical features of PHP1a...
2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/29280743/current-nomenclature-of-pseudohypoparathyroidism-inactivating-parathyroid-hormone-parathyroid-hormone-related-protein-signaling-disorder
#19
Serap Turan
Disorders related to parathyroid hormone (PTH) resistance and PTH signaling pathway impairment are historically classified under the term of pseudohypoparathyroidism (PHP). The disease was first described and named by Fuller Albright and colleagues in 1942. Albright hereditary osteodystrophy (AHO) is described as an associated clinical entity with PHP, characterized by brachydactyly, subcutaneous ossifications, round face, short stature and a stocky build. The classification of PHP is further divided into PHP-Ia, pseudo-PHP (pPHP), PHP-Ib, PHP-Ic and PHP-II according to the presence or absence of AHO, together with an in vivo response to exogenous PTH and the measurement of Gsα protein activity in peripheral erythrocyte membranes in vitro...
December 30, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29240265/bone-mineral-density-and-its-serial-changes-are-associated-with-pth-levels-in-pseudohypoparathyroidism-type-1b-patients
#20
Xueying Chu, Yan Zhu, Ou Wang, Min Nie, Tingting Quan, Yu Xue, Wenbo Wang, Yan Jiang, Mei Li, Weibo Xia, Xiaoping Xing
Bone responsiveness to serum parathyroid hormone (PTH) in pseudohypoparathyroidism 1B (PHP1B) is controversial. Forty-eight PHP1B patients diagnosed by molecular analysis were recruited from 2000 to 2016 from the Peking Union Medical College Hospital. Fifty-five sex-matched nonsurgical hypoparathyroidism (NS-HP) patients were selected and included for comparison. Basic information, laboratory test, and dual-energy X-ray absorptiometry (DXA) results were collected. Linear regression was performed to identify independent predictors of lumbar spine (LS), femoral neck (FN), and total hip (TH) bone mineral density (BMD) Z-scores in PHP1B patients...
April 2018: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
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