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Albright hereditary osteodystrophy

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https://www.readbyqxmd.com/read/27922245/a-novel-mutation-in-a-case-of-pseudohypoparathyroidism-type-ia
#1
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/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/27813477/-genes-in-the-camp-pathway-causing-skeletal-dysplasia-with-or-without-hormonal-resistance
#6
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/27727565/albrights-hereditary-osteodystrophy-an-uncommon-cause-of-reversible-cardiomyopathy-presenting-as-acute-left-ventricular-failure
#7
N S Kochar, J J Jacob
No abstract text is available yet for this article.
January 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
#8
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
#9
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
#10
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/27517079/total-ankylosis-of-the-upper-left-limb-a-case-of-progressive-osseous-heteroplasia
#11
Ali Birjandinejad, Mohammad-Hossein Taraz-Jamshidi, Sayyed Hadi Sayyed Hosseinian
Progressive osseous heteroplasia is a rare inherited disease that begins with skin ossification and proceeds into the deeper connective tissues. The disease should be distinguished from other genetic disorders of heterotopic ossification including fibrodysplasia ossificans progressiva (FOP) and Albright hereditary osteodystrophy (AHO). We report a case of progressive osseous heteroplasia in a twenty four years old male with a complaint of ankylosis of the entire upper left limb and digital cutaneous lesions and sparing of the other limbs and the axial skeleton...
June 2016: Archives of Bone and Joint Surgery
https://www.readbyqxmd.com/read/27428667/the-prevalence-of-gnas-deficiency-related-diseases-in-a-large-cohort-of-patients-characterized-by-the-europhp-network
#12
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
#13
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/27338644/macrosomia-obesity-and-macrocephaly-as-first-clinical-presentation-of-php1b-caused-by-stx16-deletion
#14
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
https://www.readbyqxmd.com/read/27298645/ultrasound-pattern-of-a-rare-skin-disease-multiple-miliaryosteoma-cutis
#15
F Elia, G Paolino, M Donati, F M Solivetti
PURPOSE: Multiple miliaryosteoma cutis (MMOC) is a rare nodular skin disease, characterized by tiny bone nodules in the dermis and subcutaneous tissue, presenting clinically as multiple normochromic papules and nodules, usually on the face. We described the case of MMOC of the face in a woman, ultrasonically evaluated with very high frequency probe. MATERIALS AND METHODS: A 45-year-old patient with multiple papules, 3-5 mm in diameter, grouped in the frontal region...
2016: Journal of Ultrasound
https://www.readbyqxmd.com/read/26763073/screening-of-prkar1a-and-pde4d-in-a-large-italian-series-of-patients-clinically-diagnosed-with-albright-hereditary-osteodystrophy-and-or-pseudohypoparathyroidism
#16
Francesca Marta Elli, Paolo Bordogna, Luisa de Sanctis, Federica Giachero, Elisa Verrua, Maria Segni, Laura Mazzanti, Valentina Boldrin, Alma Toromanovic, Anna Spada, Giovanna Mantovani
The cyclic adenosine monophosphate (cAMP) intracellular signaling pathway mediates the physiological effects of several hormones and neurotransmitters, acting by the activation of G-protein coupled receptors (GPCRs) and several downstream intracellular effectors, including the heterotrimeric stimulatory G-protein (Gs), the cAMP-dependent protein kinase A (PKA), and cAMP-specific phosphodiesterases (PDEs). Defective G-protein-mediated signaling has been associated with an increasing number of disorders, including Albright hereditary osteodistrophy (AHO) and pseudohypoparathyroidism (PHP), a heterogeneous group of rare genetic metabolic disorders resulting from molecular defects at the GNAS locus...
June 2016: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/26488942/abnormal-methylation-status-of-the-gnas-exon-1a-region-in-pseudohypohyperparathyroidism-combined-with-turner-syndrome
#17
Jie Zhu, Dong Wang, An Ren, Yan Xing, Dongliang Zhang, Jun Wei, Ning Yu, Xuenong Xing, Shandong Ye
Pseudohypohyperparathyroidism (PHHP) is a rare type of pseudohypoparathyroidism (PHP), which seems to have a normal skeletal response to parathyroid hormone but shows renal resistance. Almost all patients with PHHP have PHP Ib, a subtype of PHP that is usually caused by GNAS methylation defects, often in exon 1A. Some features of Albright hereditary osteodystrophy can occasionally be found in patients with PHHP, but these features are also common in Turner syndrome. The authors report on an extremely rare case of a patient with PHHP and Turner syndrome, a 47-year-old woman who sought medical attention for hypocalcemia and elevated parathyroid hormone...
December 2015: American Journal of the Medical Sciences
https://www.readbyqxmd.com/read/26479409/analysis-of-multiple-families-with-single-individuals-affected-by-pseudohypoparathyroidism-type-ib-php1b-reveals-only-one-novel-maternally-inherited-gnas-deletion
#18
Rieko Takatani, Angelo Molinaro, Giedre Grigelioniene, Olta Tafaj, Tomoyuki Watanabe, Monica Reyes, Amita Sharma, Vibha Singhal, F Lucy Raymond, Agnès Linglart, Harald Jüppner
Proximal tubular resistance to parathyroid hormone (PTH) resulting in hypocalcemia and hyperphosphatemia are preeminent abnormalities in pseudohypoparathyroidism type Ib (PHP1B), but resistance toward other hormones as well as variable features of Albright's Hereditary Osteodystrophy (AHO) can occur also. Genomic DNA from PHP1B patients shows epigenetic changes at one or multiple differentially methylated regions (DMRs) within GNAS, the gene encoding Gαs and splice variants thereof. In the autosomal dominant disease variant, these methylation abnormalities are caused by deletions in STX16 or GNAS on the maternal allele...
April 2016: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/26367199/a-girl-with-beckwith-wiedemann-syndrome-and-pseudohypoparathyroidism-type-1b-due-to-multiple-imprinting-defects
#19
Boudewijn Bakker, Laura J H Sonneveld, M Claire Woltering, Hennie Bikker, Sarina G Kant
CONTEXT: Several patients with Beckwith-Wiedemann Syndrome (BWS) with multiple imprinting defects found by genetic analysis have been described. However, only two cases have been described with both genetic and clinical signs and symptoms of multiple diseases caused by imprinting defects. CASE DESCRIPTION: The girl in this case presented at the age of 6 months with morbid obesity (body mass index, +7.5 SDS) and a large umbilical hernia. Genetic analysis showed BWS (hypomethylation of the KCNQ1OT1 gene)...
November 2015: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/26116601/spinal-stenosis-with-paraparesis-in-a-korean-boy-with-albright-s-hereditary-osteodystrophy-identification-of-a-novel-nonsense-mutation-in-the-gnas
#20
Sang Heon Lee, Seung Hyeon Mun, Sung Yoon Cho, Yeo Ju Kim, Dong-Kyu Jin, Chang-Seok Ki, Ji-Eun Lee
Children with Albright's hereditary osteodystrophy (AHO) suffering from spinal cord compression are rarely reported worldwide. The association of compressive myelopathy with AHO is not still well known. AHO is a rare heterogeneous group of inherited disorders and results from the GNAS mutation. AHO manifests in two different phenotypes, pseudohypoparathyroidism type Ia (PHP-Ia) and pseudopsedohypoparthyroidim (PPHP), which may happen in the same family members. We present the case of a 15-year-old boy with AHO features, who was later diagnosed with PHP-Ia...
2015: Annals of Clinical and Laboratory Science
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