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Pseudohypoparathyroidism

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https://www.readbyqxmd.com/read/28648505/hypothyroidism-associated-with-parathyroid-disorders
#1
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
#2
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-an-indian-adult-male-population-a-25-year-follow-up-study
#3
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
https://www.readbyqxmd.com/read/28483283/-the-mouth-of-patients-with-hypo-and-pseudohypoparathyroidism
#4
François Wémeau, Jean-Louis Wémeau
Chronic calcipenia related to hypo- and pseudohypoparathyroidism favors trophic complications, especially expressed on the buccal cavity. Correlated with early onset of the disease and imperfect correction of the metabolic disorders, retardation to appearance and implantation of teeth are observed. The buccal signs often are the most immediately visible expression of the disease. They are painful and disabling. Other acute expressions reflect the neuromuscular hyperexcitability related to tetany. Finally, some etiologies determine specific damage, as in Di George's, HDR syndromes or in Albright's osteodystrophia...
May 5, 2017: La Presse Médicale
https://www.readbyqxmd.com/read/28453643/early-onset-obesity-unrecognized-first-evidence-for-gnas-mutations-and-methylation-changes
#5
Annette Grüters-Kieslich, Monica Reyes, Amita Sharma, Cem Demirci, Terry J DeClue, Erwin Lankes, Dov Tiosano, Dirk Schnabel, Harald Jüppner
Context: Early-onset obesity, characteristic for disorders affecting the leptin-melanocortin pathway, is also observed in pseudohypoparathyroidism type Ia (PHP1A), a disorder caused by maternal GNAS mutations that disrupt expression or function of the stimulatory G protein (Gsα). Mutations and/or epigenetic abnormalities at the same genetic locus are also the cause of pseudohypoparathyroidism type Ib (PHP1B). However, although equivalent biochemical and radiographic findings can be encountered in these related disorders caused by GNAS abnormalities they are considered distinct clinical entities...
April 27, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28336823/-regulatory-mechanism-of-calcium-metabolism
#6
Keiichi Ozono
It is often difficult for terrestrial animals to take enough calcium. To maintain serum or extracellular calcium levels is very important for muscle and nerve function. Two major regulators to increase the serum calcium levels are parathyroid hormone(PTH)and vitamin D. PTH binds to the G protein coupling receptor, PTH1R, and increases intracellular cAMP levels. Impirement in the PTH signalling causes many diseases such as pseudohypoparathyroidism and acrodysostosis with hormone resistance. Vitamin D is activated to 1,25-dihydroxyvitamin D[1,25(OH)2D]by two steps of hydroxylation which occurs in the Liver and Kidney...
2017: Clinical Calcium
https://www.readbyqxmd.com/read/28323910/progressive-development-of-pth-resistance-in-patients-with-inactivating-mutations-on-the-maternal-allele-of-gnas
#7
Alessia Usardi, Asmaa Mamoune, Elodie Nattes, Jean-Claude Carel, Anya Rothenbuhler, Agnès Linglart
Context: Parathormone (PTH) resistance is characterized by hypocalcaemia, hyperphosphatemia, and elevated PTH in the absence of vitamin D deficiency. Pseudohypoparathyroidism type 1A [PHP1A, or inactivating parathormone (PTH)/PTHrp signaling disorder 2, according to the new classification (iPPSD2)], is caused by mutations in the maternal GNAS allele. Objective: To assess PTH resistance over time in 20 patients affected by iPPSD2 (PHP1A), diagnosed because of family history, ectopic ossification, or short stature, and carrying a GNAS mutation...
June 1, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28296742/pseudohypoparathyroidism-with-basal-ganglia-calcification-a-case-report-of-rare-cause-of-reversible-parkinsonism
#8
Cheng-Yuan Song, Zhen-Xiang Zhao, Wei Li, Cong-Cong Sun, Yi-Ming Liu
RATIONALE: Parkinsonism can be secondary to many internal diseases, in some certain conditions, it seems that the clinical manifestations of parkinsonism presenting reversible. We report a case of patient with parkinsonism secondary to pseudohypoparathyroidism, who improved markedly after the supplement of serum calcium. PATIENT CONCERNS AND DIAGNOSES: A 52-year-old woman with acute parkinsonism was diagnosed as pseudohypoparathyroidism after the conducting of brain computed tomography, laboratory examinations, and gene detection...
March 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28162874/deconstructing-fahr-s-disease-syndrome-of-brain-calcification-in-the-era-of-new-genes
#9
REVIEW
Amit Batla, Xin You Tai, Lucia Schottlaender, Robert Erro, Bettina Balint, Kailash P Bhatia
INTRODUCTION: There are now a number genes, known to be associated with familial primary brain calcification (PFBC), causing the so called 'Fahr's' disease or syndrome. These are SCL20A2, PDGFB, PDGFRB and XPR1. In this systematic review, we analyse the clinical and radiological features reported in genetically confirmed cases with PFBC. We have additionally reviewed pseudohypoparathyroidism which is a close differential diagnosis of PFBC in clinical presentation and is also genetically determined...
April 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28035428/raised-intracranial-pressure-as-a-result-of-pansynostosis-in-a-child-with-albright-s-hereditary-osteodystrophy
#10
Sepehr Mamoei, Søren Cortnum
CASE: The authors describe the case of an 8-year-old boy with pansynostosis in the context of Albright's hereditary osteodystrophy (AHO). This condition had lead to raised intracranial pressure (ICP). The elevated ICP was a consequence of the rigid skull impeding brain growth. Therefore, a decompressive cranioplasty was performed successfully, leaving further space for the growing brain. Affection of the central nervous system has been documented in AHO. However, affection of the skull bones has rarely been described in literature...
December 29, 2016: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/27995443/pseudohypoparathyroidism-one-gene-several-syndromes
#11
REVIEW
O Tafaj, H Jüppner
Pseudohypoparathyroidism (PHP) and pseudopseudohypoparathyroidism (PPHP) are caused by mutations and/or epigenetic changes at the complex GNAS locus on chromosome 20q13.3 that undergoes parent-specific methylation changes at several sites. GNAS encodes the alpha-subunit of the stimulatory G protein (Gsα) and several splice variants thereof. Heterozygous inactivating mutations involving the maternal GNAS exons 1-13 cause PHP type Ia (PHP1A). Because of much reduced paternal Gsα expression in certain tissues, such as the proximal renal tubules, thyroid, and pituitary, there is little or no Gsα protein in the presence of maternal GNAS mutations, thus leading to PTH-resistant hypocalcemia and hyperphosphatemia...
April 2017: Journal of Endocrinological Investigation
https://www.readbyqxmd.com/read/27981863/management-of-pseudohypoparathyroidism-in-pregnancy-a-case-report
#12
Paula Guedes Ramallo, Evangelina Boix Carreño
No abstract text is available yet for this article.
December 16, 2016: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/27935921/isolated-pth-renal-resistance-pseudohypoparathyroidism-1b-a-rare-cause-of-hypocalcemia
#13
A Aggarwal, R Shah, O Mousa, A Patel
A case of Pseudohypoparathyroidism 1b is reported, who presented with signs and symptoms of hypocalcemia. Causes, diagnosis and management with new insight into genetic novel mutations in PHP are discussed. The objectives are to provide information regarding problems of Calcium balance, causes and making diagnosis of pseudohypoparathyroidism, learn complexities of PTH cellular interactions and calcium homeostasis and learn the genetic novel mutations of various types of PHP.
July 2016: JNMA; Journal of the Nepal Medical Association
https://www.readbyqxmd.com/read/27922245/a-novel-mutation-in-a-case-of-pseudohypoparathyroidism-type-ia
#14
Birgül Kırel, Meliha Demiral, Özkan Bozdağ, Kadri Karaer
Pseudohypoparathyroidism (PHP) type Ia is characterized by multiple hormone resistance; primarily parathyroid hormone (PTH) resistance and Albright's hereditary osteodystrophy (AHO) which involves skeletal and developmental defects. The AHO phenotype alone without hormone resistance is defined as pseudoPHP. A boy was first diagnosed as having both rickets and primary hypothyroidism at 2.5 months of age. His calcium level remained within normal levels after vitamin D treatment, but, elevated PTH and ALP levels and normal-high phosphate levels persisted during his follow-up by age of 2...
2016: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/27901178/hypoparathyroidism-and-pseudohypoparathyroidism-etiology-laboratory-features-and-complications
#15
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 2016: Archives of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/27882740/sporadic-pseudohypoparathyroidism-type-1b-with-asymptomatic-hypocalcemia
#16
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
#17
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...
February 2017: 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
#18
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
#19
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
#20
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
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