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Pseudohypoparathyroidism

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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
#1
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
#2
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
#3
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 (Gsα)-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
#4
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...
January 11, 2018: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/29280743/current-nomenclature-of-pseudohypoparathyroidism-inactivating-parathyroid-hormone-parathyroid-hormone-related-protein-signaling-disorder
#5
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 27, 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
#6
Xueying Chu, Yan Zhu, Ou Wang, Min Nie, Tingting Quan, Yu Xue, Wenbo Wang, Yan Jiang, Mei Li, Weibo Xia, Xiaoping Xing
BACKGROUND: Bone responsiveness to serum PTH in pseudohypoparathyroidism 1B (PHP1B) is controversial. OBJECTIVE: Forty-eight PHP1B patients diagnosed by molecular analysis were recruited from 2000 to 2016 from the Peking Union Medical College Hospital. Fifty-five gender-matched non-surgical hypoparathyroidism (NS-HP) patients were selected and included for comparison. METHODS: Basic information, laboratory test and dual-energy X-ray absorptiometry results were collected...
December 14, 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/29193623/cognitive-and-behavioral-phenotype-of-children-with-pseudohypoparathyroidism-type-1a
#7
Katia M Perez, Evon B Lee, Sachini Kahanda, Jessica Duis, Monica Reyes, Harald Jüppner, Ashley H Shoemaker
Pseudohypoparathyroidism 1A (PHP1A) is a rare, genetic disorder. Most patients with PHP1A have cognitive impairment but this has not been systematically studied. We hypothesized that children with PHP1A would have lower intelligent quotient (IQ) scores than controls. To evaluate cognition and behavior, we prospectively enrolled children with PHP1A, one unaffected sibling (when available) and controls matched on BMI/age/gender/race. Evaluations included cognitive and executive function testing. Parents completed questionnaires on behavior and executive function...
November 28, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29191124/the-dental-manifestations-and-orthodontic-implications-of-hypoparathyroidism-in-childhood
#8
Amy Arora Gallacher, M N Pemberton, D T Waring
The presence of short dental roots can present challenges to the orthodontist both in terms of identifying its aetiology and in subsequent treatment planning. Uncommon causes include hypoparathyroidism and pseudohypoparathyroidism, where short roots may be seen in combination with other oral manifestations including enamel hypoplasia secondary to low calcium levels. This case report highlights these features and the orthodontic treatment proposed.
November 30, 2017: Journal of Orthodontics
https://www.readbyqxmd.com/read/29136292/clinical-and-genetic-characteristics-of-pseudohypoparathyroidism-in-the-chinese-population
#9
Xueying Chu, Yan Zhu, Ou Wang, Min Nie, Tingting Quan, Yu Xue, Wenbo Wang, Yan Jiang, Mei Li, Weibo Xia, Xiaoping Xing
BACKGROUND: Pseudohypoparathyroidism (PHP) is caused by mutations and epimutations in the GNAS locus, and characterized by the possibility of resistance to multiple hormones and Albright's hereditary osteodystrophy. PHP can be classified into the forms 1A/C, sporadic 1B, and familial 1B. OBJECTIVES: To obtain an overall view of the clinical and genetic characteristics of the Chinese PHP patient population. METHODS: From 2000 to 2016, 120 patients were recruited and studied using Sanger sequencing, methylation-specific multiple ligation-dependent probe amplification (MS-MLPA), and combined bisulfiterestriction analysis (COBRA)...
November 14, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/29125274/pseudohypoparathyroidism
#10
Luisella Cianferotti, Maria L Brandi
The term pseudohypoparathyroidism (PHP) refers to a spectrum of rare disorders of mineral metabolism, characterized by features due to end-organ resistance to PTH. The phenotypes of Albright hereditary osteodystrophy (AHO), originally described as associated to the disease, and progressive osseous heteroplasia, can be associated to the endocrine manifestations of hormonal resistance. Genetic or epigenetic alterations in the complex imprinted GNAS locus, encoding the alpha-subunit of the stimulatory G protein (GSα) and several other transcripts, give rise to the different forms oh PHP, which can be differentiated according to the phenotype, the response to PTH infusion and in vitro assays testing Gsα activity...
November 10, 2017: Minerva Endocrinologica
https://www.readbyqxmd.com/read/29059381/ossifications-in-albright-hereditary-osteodystrophy-role-of-genotype-inheritance-sex-age-hormonal-status-and-bmi
#11
Parissa Salemi, Julie M Skalamera Olson, Lauren E Dickson, Emily L Germain-Lee
Context: Albright hereditary osteodystrophy (AHO) is caused by heterozygous inactivating mutations in GNAS. Depending on the parental origin of the mutated allele, patients develop either pseudohypoparathyroidism type 1A (PHP1A), with multihormone resistance and severe obesity, or pseudopseudohypoparathyroidism (PPHP), without hormonal abnormalities or marked obesity. Subcutaneous ossifications (SCOs) are a source of substantial morbidity in both PHP1A and PPHP. Objective: This study investigated the previously undetermined prevalence of SCO formation in PHP1A vs PPHP as well as possible correlations with genotype, sex, age, hormonal resistance, and body mass index (BMI)...
January 1, 2018: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29033417/pseudohypoparathyroidism-causing-multiple-brain-calcifications
#12
Yuya Kobayashi, Jun Tsuyuzaki, Yoichi Koizumi
No abstract text is available yet for this article.
October 16, 2017: Internal Medicine
https://www.readbyqxmd.com/read/28902630/pseudohypoparathyroidism-type-1b-associated-with-assisted-reproductive-technology
#13
Monica Fernandez, Maria Jose Zambrano, Joel Riquelme, Claudia Castiglioni, Marie-Laure Kottler, Harald Jüppner, Veronica Mericq
Evidence suggests an increased incidence of imprinting disorders in children conceived by assisted reproductive technologies (ART). Maternal loss-of-methylation at GNAS exon A/B, observed in pseudohypoparathyroidism type 1b (PHP1B), leads to decreased expression of the stimulatory Gsα. We present a patient conceived by ART, who presented at age 4 years with delayed neurocognitive development and persistently increased creatine kinase (CK). At 6 years an elevated PTH was detected with normal calcium and a low 25(OH) vitamin D level (25OHD)...
October 26, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28889026/gnas-mutations-and-heterotopic-ossification
#14
Murat Bastepe
GNAS is a complex imprinted gene encoding the alpha-subunit of the stimulatory heterotrimeric G protein (Gsα). GNAS gives rise to additional gene products that exhibit exclusively maternal or paternal expression, such as XLαs, a large variant of Gsα that shows exclusively paternal expression and is partly identical to the latter. Gsα itself is expressed biallelically in most tissues, although the expression occurs predominantly from the maternal allele in a small set of tissues, such as renal proximal tubules...
September 6, 2017: Bone
https://www.readbyqxmd.com/read/28804209/endocrinological-and-phenotype-evaluation-in-a-patient-with-acrodysostosis
#15
Kaoru Ueyama, Noriyuki Namba, Taichi Kitaoka, Keiko Yamamoto, Makoto Fujiwara, Yasuhisa Ohata, Takuo Kubota, Keiichi Ozono
Acrodysostosis is characterized by distinctive facial features and severe brachydactyly. Mutations in PRKAR1A or PDE4D are known to be responsible for this disease. Cases of hormonal resistance have been reported, particularly in patients with PRKAR1A mutations. The physical characteristics and endocrine function of pseudohypoparathyroidism type Ia is known to resemble acrodysostosis. We report the case of a 4-yr-old patient with a PRKAR1A mutation. He had characteristic facies with an upturned nose and cone-shaped epiphyses of most phalanges...
2017: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/28711660/a-novel-deletion-involving-gnas-exon-1-causes-php1a-and-further-refines-the-region-required-for-normal-methylation-at-exon-a-b
#16
Monica Reyes, Anara Karaca, Murat Bastepe, Nese Ersoz Gulcelik, Harald Jüppner
GNAS exons 1-13 encode the biallelically expressed alpha-subunit of the stimulatory G protein (Gαs). Additional transcripts derived from this locus use alternative first exons that undergo parent-specific methylation, thus allowing transcription only from the non-modified allele. Pseudohypoparathyroidism type Ia (PHP1A) is characterized by Albright's Hereditary Osteodystrophy (AHO) and resistance to multiple hormones; this disorder is caused by maternal inactivating mutations involving Gαs exons. In contrast, pseudohypoparathyroidism type Ib (PHP1B) is characterized mostly by resistance to PTH and often mild TSH resistance, usually without AHO features...
October 2017: Bone
https://www.readbyqxmd.com/read/28694163/mice-maintain-predominantly-maternal-g%C3%AE-s-expression-throughout-life-in-brown-fat-tissue-bat-but-not-other-tissues
#17
Olta Tafaj, Steven Hann, Ugur Ayturk, Matthew L Warman, Harald Jüppner
The murine Gnas (human GNAS) locus gives rise to Gαs and different splice variants thereof. The Gαs promoter is not methylated thus allowing biallelic expression in most tissues. In contrast, the alternative first Gnas/GNAS exons and their promoters undergo parent specific methylation, which limits transcription to the non-methylated allele. Pseudohypoparathyroidism type Ia (PHP1A) or type Ib (PHP1B) are caused by heterozygous maternal GNAS mutations suggesting that little or no Gαs is derived in some tissues from the non-mutated paternal GNAS thereby causing hormonal resistance...
July 8, 2017: Bone
https://www.readbyqxmd.com/read/28648505/hypothyroidism-associated-with-parathyroid-disorders
#18
REVIEW
Giovanna Mantovani, Francesca Marta Elli, Sabrina Corbetta
Hypothyroidism may occur in association with congenital parathyroid disorders determining parathyroid hormone insufficiency, which is characterized by hypocalcemia and concomitant inappropriately low secretion of parathormone (PTH). The association is often due to loss of function of genes common to thyroid and parathyroid glands embryonic development. Hypothyroidism associated with hypoparathyroidism is generally mild and not associated with goiter; moreover, it is usually part of a multisystemic involvement not restricted to endocrine function as occurs in patients with 22q11 microdeletion/DiGeorge syndrome, the most frequent disorders...
March 2017: Best Practice & Research. Clinical Endocrinology & Metabolism
https://www.readbyqxmd.com/read/28648114/pseudohypoparathyroidism-type-1b-a-rare-cause-of-tetany-case-report
#19
Catarina Garcia, Cátia R Correia, Lurdes Lopes
Pseudohypoparathyroidism (PHP) is a rare group of disorders characterised by end-organ resistance to the parathyroid hormone (PTH). A 16-year-old boy presented with a 2-year history of involuntary dystonic movements involving mainly the left hand, initially after writing and later during physical exercise. Serum calcium was 1.37 mmol/L (2.20-2.69), phosphate 2.1 mmol/L (0.8-1.45) and PTH 302 ng/L (12-88). CT scan of the head demonstrated multiple subcortical and diffuse basal ganglia calcifications. Genetic analysis confirmed a methylation defect in the GNAS cluster on chromosome 20q13...
June 26, 2017: Paediatrics and International Child Health
https://www.readbyqxmd.com/read/28617975/incidence-of-parathyroid-disorders-in-indian-adult-male-population-a-25-year-follow-up-study
#20
K V S Hari Kumar, S K Patnaik
CONTEXT AND OBJECTIVE: Detailed information on the epidemiology of parathyroid disorders in India is lacking. Most of the available data pertain to primary hyperparathyroidism (PHPT) rather than the overall burden of parathyroid disorders. We studied the incidence of parathyroid disorders in a cohort of service personnel followed for a long duration. DESIGN, SETTING AND PATIENTS: The data for this retrospective, descriptive epidemiological study were derived from the electronic medical records (EMR) of health care personnel enrolled between 1990 and 2015...
June 15, 2017: Clinical Endocrinology
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