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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
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
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
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
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
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
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
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
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
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
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
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
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
Akie Nakamura, Erika Hamaguchi, Reiko Horikawa, Yasuyuki Nishimura, Keiko Matsubara, Shinichiro Sano, Keisuke Nagasaki, Yoichi Matsubara, Akihiro Umezawa, Toshihiro Tajima, Tsutomu Ogata, Masayo Kagami, Kohji Okamura, Maki Fukami
CONTEXT: Pseudohypoparathyroidism type 1b (PHP-1b) results from methylation defects at the G protein stimulatory α subunit (GNAS) exon A/B-differentially methylated region (DMR). Although microduplications in the GNAS region were recently identified in two PHP-1b patients, genetic information on these patients remained fragmentary. CASE DESCRIPTION: A 20-year-old Japanese male and his mother presented with hypocalcemia and elevated blood levels of intact PTH. The proband had a maternal uncle who was previously diagnosed with PHP-1b...
July 2016: Journal of Clinical Endocrinology and Metabolism
Toshimi Michigami
Hypoparathyroidism in a broad sense is caused by a parathyroid hormone (PTH) deficiency or resistance, leading to hypocalcemia and hyperphosphatemia. PTH deficiency can be result from destruction or hypoplasia/agenesis of the parathyroid gland, or the impaired synthesis or secretion of PTH. On the other hand, PTH resistance is based on the disrupted transduction of its signaling and includes pseudohypoparathyroidism, Blomstrand lethal chondrodysplasia and acrodysostosis. There has been a substantial progress in the identification of the pathogenesis for the inherited hypoparathyroidism, and genetic tests for diagnosis are considered when necessary...
June 2016: Clinical Calcium
Sabrina Poradosu, Bert Bravenboer, Rieko Takatani, Harald Jüppner
Pseudohypoparathyroidism type 1B (PHP1B) consists of a heterogeneous group of disorders characterised by resistance to parathyroid hormone (PTH). There are several different PHP1B subtypes that are all associated with methylation changes at GNAS. These epigenetic changes are caused by maternal deletions in GNAS or STX16, by paternal uniparental isodisomy of chromosome 20q (patUPD20q) or by undefined genetic mutations. The GNAS methylation changes are ultimately responsible for resistance to PTH signalling in the proximal renal tubules...
2016: BMJ Case Reports
Shinichiro Sano, Keiko Matsubara, Keisuke Nagasaki, Toru Kikuchi, Kazuhiko Nakabayashi, Kenichiro Hata, Maki Fukami, Masayo Kagami, Tsutomu Ogata
Although recent studies have often revealed the presence of multilocus imprinting disturbance (MLID) at differentially methylated regions (DMRs) in patients with imprinting disorders (IDs), most patients exhibit clinical features of the original ID only. Here we report a Japanese female patient with Beckwith-Wiedemann syndrome and pseudohypoparathyroidism type Ib. Molecular studies revealed marked methylation defects (MDs) at the Kv-DMR and the GNAS-DMRs and variable MDs at four additional DMRs, in the absence of a mutation in ZFP57, NLRP2, NLRP7, KHDC3L and NLRP5...
August 2016: Journal of Human Genetics
Giovanna Mantovani, Anna Spada, Francesca Marta Elli
Pseudohypoparathyroidism exemplifies 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 the cAMP signalling pathway, rather than of the parathyroid hormone (PTH) receptor itself. Despite the first description of this disorder dating back to 1942, later findings have unveiled complex epigenetic alterations in addition to classic mutations in GNAS underpining the molecular basis of the main subtypes of pseudohypoparathyroidism...
June 2016: Nature Reviews. Endocrinology
Dolores M Shoback, John P Bilezikian, Aline G Costa, David Dempster, Henning Dralle, Aliya A Khan, Munro Peacock, Marco Raffaelli, Barbara C Silva, Rajesh V Thakker, Tamara Vokes, Roger Bouillon
CONTEXT: Understanding the etiology, diagnosis, and symptoms of hypoparathyroidism may help to improve quality of life and long-term disease outcomes. This paper summarizes the results of the findings and recommendations of the Working Group on Presentation of Hypoparathyroidism. EVIDENCE ACQUISITION: Experts convened in Florence, Italy, in May 2015 and evaluated the literature and recent data on the presentation and long-term outcomes of patients with hypoparathyroidism...
June 2016: Journal of Clinical Endocrinology and Metabolism
Bart L Clarke, Edward M Brown, Michael T Collins, Harald Jüppner, Peter Lakatos, Michael A Levine, Michael M Mannstadt, John P Bilezikian, Anatoly F Romanischen, Rajesh V Thakker
CONTEXT: Hypoparathyroidism is a disorder characterized by hypocalcemia due to insufficient secretion of PTH. Pseudohypoparathyroidism is a less common disorder due to target organ resistance to PTH. This report summarizes the results of the findings and recommendations of the Working Group on Epidemiology and Diagnosis of Hypoparathyroidism. EVIDENCE ACQUISITION: Each contributing author reviewed the recent published literature regarding epidemiology and diagnosis of hypoparathyroidism using PubMed and other medical literature search engines...
June 2016: Journal of Clinical Endocrinology and Metabolism
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