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Laron syndrome

Kaoru Nashiro, Jaime Guevara-Aguirre, Meredith N Braskie, George W Hafzalla, Rico Velasco, Priya Balasubramian, Min Wei, Paul M Thompson, Mara Mather, Marvin D Nelson, Alexandra Guevara, Enrique Teran, Valter D Longo
: Growth hormone receptor deficiency (GHRD) results in short stature, enhanced insulin sensitivity, and low circulating levels of insulin and insulin-like growth factor 1 (IGF-1). Previous studies in mice and humans suggested that GHRD has protective effects against age-related diseases, including cancer and diabetes. Whereas GHRD mice show improved age-dependent cognitive performance, the effect of GHRD on human cognition remains unknown. Using magnetic resonance imaging (MRI), we compared brain structure, function, and connectivity between 13 people with GHRD and 12 unaffected relatives...
January 10, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
Nilofer Seema, Divya Saroja Datla, Dantesh Chalasani, Krishnam Raju
No abstract text is available yet for this article.
January 2016: Journal of the Association of Physicians of India
Anna Janecka, Marta Kołodziej-Rzepa, Beata Biesaga
Laron syndrome (LS) is a rare, genetic disorder inherited in an autosomal recessive manner. The disease is caused by mutations of the growth hormone (GH) gene, leading to GH/insulin-like growth factor type 1 (IGF1) signalling pathway defect. Patients with LS have characteristic biochemical features, such as a high serum level of GH and low IGF1 concentration. Laron syndrome was first described by the Israeli physician Zvi Laron in 1966. Globally, around 350 people are affected by this syndrome and there are two large groups living in separate geographic regions: Israel (69 individuals) and Ecuador (90 individuals)...
July 2016: In Vivo
Lena Lapkina-Gendler, Itai Rotem, Metsada Pasmanik-Chor, David Gurwitz, Rive Sarfstein, Zvi Laron, Haim Werner
The growth hormone (GH)-insulin-like growth factor-1 (IGF1) pathway emerged in recent years as a critical player in cancer biology. Enhanced expression or activation of specific components of the GH-IGF1 axis, including the IGF1 receptor (IGF1R), is consistently associated with a transformed phenotype. Recent epidemiological studies have shown that patients with Laron syndrome (LS), the best-characterized entity among the congenital IGF1 deficiencies, seem to be protected from cancer development. To identify IGF1-dependent genes and signaling pathways associated with cancer protection in LS, we conducted a genome-wide analysis using immortalized lymphoblastoid cells derived from LS patients and healthy controls of the same gender, age range, and ethnic origin...
May 2016: Endocrine-related Cancer
Vivian Hwa
Growth hormone (GH) promotes postnatal human growth primarily by regulating insulin-like growth factor (IGF)-I production through activation of the GH receptor (GHR)-signal transducer and activator of transcription (STAT)-5B signaling cascade. The critical importance of STAT5B in human IGF-I production was confirmed with the identification of the first homozygous, autosomal recessive, STAT5B mutation in a young female patient who phenotypically resembled patients with classical growth hormone insensitivity (GHI) syndrome (Laron syndrome) due to mutations in the GHR gene, presenting with severe postnatal growth failure and marked IGF-I deficiency...
June 2016: Growth Hormone & IGF Research
Hanane Latrech, Michel Polak
Laron syndrome is a rare cause of short stature due to an abnormality of growth hormone receptor (GHR). It is characterized by poor phenotype-genotype correlation and geographic predilection essentially in the Mediterranean rim, the Middle East and Indian subcontinent. This syndrome corresponds to an endogenous and exogenous complete insensitivity of GH and manifests by early hypoglycemia, an extremely severe short stature and dysmorphic features contrasting with high levels of circulating GH. To date, treatment with recombinant IGF1 is the only treatment option that has improved the terrible prognosis in these patients but does not actually realize the conditions for genuine replacement therapy...
January 2016: La Presse Médicale
Katharina Schilbach, Martin Bidlingmaier
A significant proportion of total circulating growth hormone (GH) is bound to a high affinity growth hormone binding protein (GHBP). Several low affinity binding proteins have also been described. Significant differences between species exist with respect to origin and regulation of GHBP, but generally it resembles the extracellular domain of the GH receptor. Concentrations are associated with GH status, body composition and other factors. Although the clinical relevance of GHBP is not fully understood it is suggested that concentrations indirectly reflect GH receptor status...
October 2015: Best Practice & Research. Clinical Endocrinology & Metabolism
Dan Cui, Fang Li, Qiuyan Li, Jia Li, Yaofeng Zhao, Xiaoxiang Hu, Ran Zhang, Ning Li
Laron syndrome is a rare disease caused by mutations of the growth hormone receptor (GHR), inheriting in an autosomal manner. To better understand the pathogenesis and to develop therapeutics, we generated a miniature pig model for this disease by employing ZFNs to knock out GHR gene. Three types of F0 heterozygous pigs (GHR(+/4bp), GHR(+/2bp), GHR(+/3bp)) were obtained and in which no significant phenotypes of Laron syndrome were observed. Prior to breed heterozygous pigs to homozygosity (GHR(4bp/4bp)), pig GHR transcript with the 4 bp insert was evaluated in vitro and was found to localize to the cytoplasm rather than the membrane...
2015: Scientific Reports
Feida Li, Yong Li, Huan Liu, Xingju Zhang, Chuxin Liu, Kai Tian, Lars Bolund, Hongwei Dou, Wenxian Yang, Huanming Yang, Nicklas Heine Staunstrup, Yutao Du
Growth hormone (GH) is an anabolic mitogen with widespread influence on cellular growth and differentiation as well as on glucose and lipid metabolism. GH binding to the growth hormone receptor (GHR) on hepatocytes prompts expression of insulin growth factor I (IGF-1) involved in nutritionally induced compensatory hyperplasia of pancreatic β-cell islets and insulin release. A prolonged hyperactivity of the IGF-1/insulin axis in the face of insulinotropic nutrition, on the other hand, can lead to collapse of the pancreatic islets and glucose intolerance...
December 2015: Transgenic Research
Zvi Laron
OBJECTIVE: To describe the characteristics of untreated and recombinant insulin-like growth factor 1 (IGF-1)- treated patients with the Laron syndrome (LS) as seen in our clinic over a period of over 50 years. In 1966, we reported a new disease, characterized by dwarfism (-4 to -10 height standard deviation score) typical facial features, small head circumference, obesity, and small genitalia. They resembled congenital growth hormone (GH) deficiency but had high levels of serum human GH and low IGF-1...
December 2015: Endocrine Practice
Sanchita Das, Mark S Rundell, Aashiq H Mirza, Maneesh R Pingle, Kristi Shigyo, Aura R Garrison, Jason Paragas, Scott K Smith, Victoria A Olson, Davise H Larone, Eric D Spitzer, Francis Barany, Linnie M Golightly
CDC designated category A infectious agents pose a major risk to national security and require special action for public health preparedness. They include viruses that cause viral hemorrhagic fever (VHF) syndrome as well as variola virus, the agent of smallpox. VHF is characterized by hemorrhage and fever with multi-organ failure leading to high morbidity and mortality. Smallpox, a prior scourge, has been eradicated for decades, making it a particularly serious threat if released nefariously in the essentially non-immune world population...
2015: PloS One
Magdalena Zoledziewska, Carlo Sidore, Charleston W K Chiang, Serena Sanna, Antonella Mulas, Maristella Steri, Fabio Busonero, Joseph H Marcus, Michele Marongiu, Andrea Maschio, Diego Ortega Del Vecchyo, Matteo Floris, Antonella Meloni, Alessandro Delitala, Maria Pina Concas, Federico Murgia, Ginevra Biino, Simona Vaccargiu, Ramaiah Nagaraja, Kirk E Lohmueller, Nicholas J Timpson, Nicole Soranzo, Ioanna Tachmazidou, George Dedoussis, Eleftheria Zeggini, Sergio Uzzau, Chris Jones, Robert Lyons, Andrea Angius, Gonçalo R Abecasis, John Novembre, David Schlessinger, Francesco Cucca
We report sequencing-based whole-genome association analyses to evaluate the impact of rare and founder variants on stature in 6,307 individuals on the island of Sardinia. We identify two variants with large effects. One variant, which introduces a stop codon in the GHR gene, is relatively frequent in Sardinia (0.87% versus <0.01% elsewhere) and in the homozygous state causes Laron syndrome involving short stature. We find that this variant reduces height in heterozygotes by an average of 4.2 cm (-0.64 s...
November 2015: Nature Genetics
Zvi Laron, Rivka Kauli
Clinical and laboratory investigations of dwarfed children newly Jewish immigrants from Yemen and Middle East and who resembled patients with isolated growth hormone deficiency were started by our group in 1958. In 1963 when we found that they have high serum levels of hGH, we knew that we had discovered a new disease of primary GH insensitivity. It was subsequently coined Laron Syndrome (LS, OMIM #262500). The etiopathogenesis was disclosed by 2 liver biopsies demonstrating a defect in the GH receptor. Subsequent investigations demonstrated deletions or mutations in the GHR gene...
June 2016: Growth Hormone & IGF Research
Zvi Laron
No abstract text is available yet for this article.
June 2016: Growth Hormone & IGF Research
Harry Ostrer
Laron syndrome, an autosomal recessive condition of extreme short stature, is caused by the absence or dysfunction of the growth hormone receptor. A recurrent mutation in the GHR gene, p.E180, did not alter the encoded amino acid, but activated a cryptic splice acceptor resulting in a receptor protein with an 8-amino acid deletion in the extracellular domain. This mutation has been observed among Sephardic Jews and among individuals in Ecuador, Brazil and Chile, most notably in a large genetic isolate in Loja, Ecuador...
June 2016: Growth Hormone & IGF Research
Arlan L Rosenbloom
UNLABELLED: A growth hormone (GH) dependent substance responsible for sulfate uptake by costal cartilage of hypophysectomized rats, labeled sulfation factor, was reported in 1957. In 1962 the radioimmunoassay for GH was described. The clinical picture of severe GH deficiency but with high serum concentrations of GH was reported in 3 siblings in 1966 and followed by a 1968 report of 22 patients belonging to 14 consanguineous oriental Jewish families in Israel. Defective sulfation factor generation was demonstrated in 15 of these individuals and in a 1971 report; FFA response to IV GH and growth response to GH injections suggested competitive saturation of peripheral tissue receptors by an abnormal GH...
June 2016: Growth Hormone & IGF Research
Jaime Guevara-Aguirre, Patricio Procel, Carolina Guevara, Marco Guevara-Aguirre, Verónica Rosado, Enrique Teran
In the present pandemics of obesity and insulin resistant diabetes mellitus (DM), the specific contribution of etiological factors such as shifts in nutritional and exercise patterns, genetic and hormonal, is subject of ongoing research. Among the hormonal factors implicated, we selected obesity-driven insulin resistance for further evaluation. It is known that growth hormone (GH) has profound effects on carbohydrate metabolism. In consequence, we compared the effects of the lack of the counter-regulatory effects of GH, in a group of subjects with GH receptor deficiency (GHRD) due to a mutated GH receptor vs...
June 2016: Growth Hormone & IGF Research
Renata C Scalco, Vivian Hwa, Horacio M Domené, Héctor G Jasper, Alicia Belgorosky, Roxana Marino, Alberto M Pereira, Carlos A Tonelli, Jan M Wit, Ron G Rosenfeld, Alexander A L Jorge
CONTEXT AND OBJECTIVE: GH insensitivity with immune dysfunction caused by STAT5B mutations is an autosomal recessive condition. Heterozygous mutations in other genes involved in growth regulation were previously associated with a mild height reduction. Our objective was to assess for the first time the phenotype of heterozygous STAT5B mutations. METHODS: We genotyped and performed clinical and laboratory evaluations in 52 relatives of two previously described Brazilian brothers with homozygous STAT5B c...
September 2015: European Journal of Endocrinology
Jaime Guevara-Aguirre, Arlan L Rosenbloom, Priya Balasubramanian, Enrique Teran, Marco Guevara-Aguirre, Carolina Guevara, Patricio Procel, Irene Alfaras, Rafael De Cabo, Stefano Di Biase, Luis Narvaez, Jannette Saavedra, Valter D Longo
CONTEXT: Ecuadorian subjects with GH receptor deficiency (GHRD) have not developed diabetes, despite obesity. OBJECTIVE: We sought to determine the metabolic associations for this phenomenon. DESIGN: Four studies were carried out: 1) glucose, lipid, adipocytokine concentrations; 2) metabolomics evaluation; 3) metabolic responses to a high-calorie meal; and 4) oral glucose tolerance tests. SETTING: Clinical Research Institute in Quito, Ecuador...
July 2015: Journal of Clinical Endocrinology and Metabolism
Peter Bang, Michel Polak, Joachim Woelfle, Aude Houchard
BACKGROUND/AIMS: We report data from the EU Increlex® Growth Forum Database (IGFD) Registry, an ongoing, open-label, observational study monitoring clinical practice use of recombinant human insulin-like growth factor-1 (rhIGF-1) therapy in children. METHODS: Safety and effectiveness data on rhIGF-1 treatment of 195 enrolled children with growth failure were collected from December 2008 to September 2013. RESULTS: Mean ± SD (95% CI) height velocity during first year of rhIGF-1 treatment was 6...
2015: Hormone Research in Pædiatrics
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