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Laron syndrome

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https://www.readbyqxmd.com/read/29850346/same-phenotype-in-children-with-growth-hormone-deficiency-and-resistance
#1
Irene Ioimo, Carmen Guarracino, Cristina Meazza, Horacio M Domené, Mauro Bozzola
By definition, about 2.5% of children show a short stature due to several causes. Two clinical conditions are characterized by serum IGF-I low levels, idiopathic GH deficiency (IGHD), and GH insensitivity (GHI), and the phenotypic appearance of these patients may be very similar. We studied two children with short stature and similar phenotypes. The first case showed frontal bossing, doll face, acromicria, and truncal obesity, with a GH peak <0.05 ng/ml after stimuli and undetectable serum IGF-I levels...
2018: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/29765966/further-clinical-evidence-for-the-effect-of-igf-1-on-hair-growth-and-alopecia
#2
Ralph M Trüeb
Observations on the Laron syndrome originally offered the opportunity to explore the effect of insulin-like growth factor 1 (IGF-1) deficiency on human hair growth and differentiation. According to its expression in the dermal hair papilla, IGF-1 is likely involved in reciprocal signaling. It has been shown to affect follicular proliferation, tissue remodeling, and the hair growth cycle, as well as follicular differentiation, identifying IGF-1 signaling as an important mitogenic and morphogenetic regulator in hair follicle biology...
April 2018: Skin Appendage Disorders
https://www.readbyqxmd.com/read/29750649/cardiac-examination-in-children-with-laron-syndrome-undergoing-mecasermin-therapy
#3
Nurdan Erol, Metin Yıldız, Ayla Güven, Ayse Yıldırım
BACKGROUND: Laron syndrome (LS), which can be defined as primary growth hormone resistance or insensitivity, is a rare genetic disease inherited by an autosomal recessive trait. Although it is undistinguishable from growth hormone deficiency, LS has high levels of growth hormone, but insulin-like growth factor (IGF-1) cannot be synthesized. Mecasermin treatment is the only option for the patients who suffer from LS. This study aims to research cardiac findings of children with LS, who receive treatment with mecasermin...
May 11, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29748515/growth-hormone-receptor-mutations-related-to-individual-dwarfism
#4
REVIEW
Shudai Lin, Congjun Li, Charles Li, Xiquan Zhang
Growth hormone (GH) promotes body growth by binding with two GH receptors (GHRs) at the cell surface. GHRs interact with Janus kinase, signal transducers, and transcription activators to stimulate metabolic effects and insulin-like growth factor (IGF) synthesis. However, process dysfunctions in the GH⁻GHR⁻IGF-1 axis cause animal dwarfism. If, during the GH process, GHR is not successfully recognized and/or bound, or GHR fails to transmit the GH signal to IGF-1, the GH dysfunction occurs. The goal of this review was to focus on the GHR mutations that lead to failures in the GH⁻GHR⁻IGF-1 signal transaction process in the dwarf phenotype...
May 10, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29678421/growth-hormone-receptor-deficient-pigs-resemble-the-pathophysiology-of-human-laron-syndrome-and-reveal-altered-activation-of-signaling-cascades-in-the-liver
#5
Arne Hinrichs, Barbara Kessler, Mayuko Kurome, Andreas Blutke, Elisabeth Kemter, Maren Bernau, Armin M Scholz, Birgit Rathkolb, Simone Renner, Sebastian Bultmann, Heinrich Leonhardt, Martin Hrabĕ de Angelis, Hiroshi Nagashima, Andreas Hoeflich, Werner F Blum, Martin Bidlingmaier, Rüdiger Wanke, Maik Dahlhoff, Eckhard Wolf
OBJECTIVE: Laron syndrome (LS) is a rare, autosomal recessive disorder in humans caused by loss-of-function mutations of the growth hormone receptor (GHR) gene. To establish a large animal model for LS, pigs with GHR knockout (KO) mutations were generated and characterized. METHODS: CRISPR/Cas9 technology was applied to mutate exon 3 of the GHR gene in porcine zygotes. Two heterozygous founder sows with a 1-bp or 7-bp insertion in GHR exon 3 were obtained, and their heterozygous F1 offspring were intercrossed to produce GHR-KO, heterozygous GHR mutant, and wild-type pigs...
May 2018: Molecular Metabolism
https://www.readbyqxmd.com/read/29482569/generation-of-ghr-modified-pigs-as-laron-syndrome-models-via-a-dual-sgrnas-cas9-system-and-somatic-cell-nuclear-transfer
#6
Honghao Yu, Weihu Long, Xuezeng Zhang, Kaixiang Xu, Jianxiong Guo, Heng Zhao, Honghui Li, Yubo Qing, Weirong Pan, Baoyu Jia, Hong-Ye Zhao, Xingxu Huang, Hong-Jiang Wei
BACKGROUND: Laron syndrome is an autosomal disease resulting from mutations in the growth hormone receptor (GHR) gene. The only therapeutic treatment for Laron syndrome is recombinant insulin-like growth factor I (IGF-I), which has been shown to have various side effects. The improved Laron syndrome models are important for better understanding the pathogenesis of the disease and developing corresponding therapeutics. Pigs have become attractive biomedical models for human condition due to similarities in anatomy, physiology, and metabolism relative to humans, which could serve as an appropriate model for Laron syndrome...
February 27, 2018: Journal of Translational Medicine
https://www.readbyqxmd.com/read/29459441/mechanisms-in-endocrinology-lessons-from-growth-hormone-receptor-gene-disrupted-mice-are-there-benefits-of-endocrine-defects
#7
REVIEW
Reetobrata Basu, Yanrong Qian, John J Kopchick
Growth hormone (GH) is produced primarily by anterior pituitary somatotroph cells. Numerous acute human (h) GH treatment and long-term follow-up studies and extensive use of animal models of GH action have shaped the body of GH research over the past 70 years. Work on the GH receptor (R)-knockout (GHRKO) mice and results of studies on GH-resistant Laron Syndrome (LS) patients have helped define many physiological actions of GH including those dealing with metabolism, obesity, cancer, diabetes, cognition and aging/longevity...
May 2018: European Journal of Endocrinology
https://www.readbyqxmd.com/read/29395968/gh-and-ghr-signaling-in-human-disease
#8
Jaime Guevara-Aguirre, Alexandra Guevara, Iván Palacios, Mónica Pérez, Patricio Prócel, Enrique Terán
Along with its inherent properties in growth promotion, cell division and regeneration, growth hormone (GH) exerts a variety of miscellaneous and widespread actions on the human body after binding to its receptor (GHR). Indeed, GH influences the metabolism of carbohydrates, lipids and proteins; shapes body composition, influences cardiovascular profile, quality of life, and induces other direct and indirect physiologic effects. Besides this salutary actions, GH and its derived peptide insulin-like growth factor-I (IGF-I), main product of the GH/GHR interaction, have been implicated in the genesis of diseases such as cancer and insulin-resistant diabetes...
February 2018: Growth Hormone & IGF Research
https://www.readbyqxmd.com/read/29339473/identification-of-thioredoxin-interacting-protein-txnip-as-a-downstream-target-for-igf1-action
#9
Karthik Nagaraj, Lena Lapkina-Gendler, Rive Sarfstein, David Gurwitz, Metsada Pasmanik-Chor, Zvi Laron, Shoshana Yakar, Haim Werner
Laron syndrome (LS), or primary growth hormone (GH) insensitivity, is the best-characterized entity among the congenital insulin-like growth factor 1 (IGF1) deficiencies. Life-long exposure to minute endogenous IGF1 levels is linked to low stature as well as a number of endocrine and metabolic abnormalities. While elevated IGF1 is correlated with increased cancer incidence, epidemiological studies revealed that patients with LS do not develop tumors. The mechanisms associated with cancer protection in LS are yet to be discovered...
January 30, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29306561/insulin-resistance-depends-on-gh-counter-regulation-in-two-syndromes-of-short-stature
#10
Jaime Guevara-Aguirre, Alexandra Guevara, Marisol Bahamonde
Specific phenotypic features of subjects affected with genetic syndromes depend on peculiarities of expression of each discrete mutation and on extent of its divergence from normal physiology. In this context, and when studying the GH/IGF-I axis of subjects with two different syndromes that include severe short stature (SSS), we noticed different metabolic phenotypes in each cohort. Subjects with Laron syndrome (LS), who have GH insensitivity (GHI), display obesity, increased body fat, enhanced insulin sensitivity and diminished incidence of diabetes mellitus...
February 2018: Growth Hormone & IGF Research
https://www.readbyqxmd.com/read/29306560/treatment-of-growth-failure-in-the-absence-of-gh-signaling-the-ecuadorian-experience
#11
Jaime Guevara-Aguirre, Alexandra Guevara, Carolina Guevara
Recombinant human insulin-like growth factor-1 (rhIGF-1) treatment studies of growth failure in absence of growth hormone (GH) signaling (GH insensitivity -GHI, Laron syndrome -LS, GH Receptor deficiency -GHRD) have taken place in many locations around the globe. Results from these trials are comparable, and slight differences reported can be attributed to specific circumstances at different research sites. rhIGF-I treatment studies of GHI in Ecuador included various trials performed on children belonging to the largest and only homogeneous cohort of subjects with this condition in the world...
February 2018: Growth Hormone & IGF Research
https://www.readbyqxmd.com/read/29238946/papp-a2-a-new-key-regulator-of-growth
#12
REVIEW
Magdalena Banaszak-Ziemska, Marek Niedziela
Short stature is the main problem that paediatric endocrinologists have to grapple with. Endocrine disorders account for only 5% of patients with short stature, but this is still one of the most common causes of reports to the endocrine clinic and hospitalisation in the endocrine department. A properly functioning growth hormone/insulin-like growth factor (GH/IGF) axis is one of the most important factors in proper growth. A lot of genetic defects in this axis lead to syndromes marked by impaired growth, like Laron syndrome, muta-tions in the STAT5B, insulin-like growth factor 1 (IGF1), and insulin-like growth factor 1 receptor (IGF1R) and mutations in the acid labile subunit (ALS)...
2017: Endokrynologia Polska
https://www.readbyqxmd.com/read/29208357/differential-expression-of-igfbps-in-laron-syndrome-derived-lymphoblastoid-cell-lines-potential-correlation-with-reduced-cancer-incidence
#13
Lina Somri, Rive Sarfstein, Lena Lapkina-Gendler, Karthik Nagaraj, Zvi Laron, Leon A Bach, Haim Werner
Laron syndrome (LS), or primary growth hormone (GH) insensitivity, is a growth disorder that results from mutation of the GH-receptor (GHR) gene leading to congenital insulin-like growth factor-1 (IGF-1) deficiency. Recent epidemiological studies have shown that LS patients are protected from cancer development. Genome-wide profiling identified genes and signaling pathways that are differentially represented in LS patients, and that may contribute to cancer protection. The present study was aimed at evaluating the hypothesis that IGF binding proteins (IGFBPs) are differentially expressed in LS, most probably as a result of low circulating levels of IGF-1...
April 2018: Growth Hormone & IGF Research
https://www.readbyqxmd.com/read/29152285/mexican-case-report-of-a-never-treated-laron-syndrome-patient-evolving-to-metabolic-syndrome-type-2-diabetes-and-stroke
#14
Inma Castilla-Cortazar, Giovana Femat-Roldán, Joel Rodríguez-Rivera, Gabriel A Aguirre, Mariano García-Magariño, Irene Martín-Estal, Luis Espinosa, Carlos Díaz-Olachea
Glucose and lipid profile together with blood pressure should always be considered for low sera-IGF-1 patients. Even when adulthood is reached, IGF-1 therapy in these patients should be pursued as metabolic and protective cellular effects could be triggered. Real incidence of growth hormone insensitivity is still to be uncovered.
November 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/29147569/growth-hormone-insensitivity-mexican-case-report
#15
I Castilla-Cortazar, J R De Ita, G A Aguirre, M García-Magariño, I Martín-Estal, V J Lara-Diaz, M I Elizondo
Herein, we present a 14-year-old patient with short stature (134 cm) referred from Paediatrics to our department for complementary evaluation since growth hormone (GH) treatment failed to show any improvement. He was born premature and small for gestational age. Genital examination classified the patient as Tanner I-II with small penis and testicular size for his age. Biochemical analyses revealed normal GH levels with low serum insulin-like growth factor-1 (IGF-1). Molecular diagnosis confirmed several mutations in IGF1R and IGFALS , and so he was diagnosed with Laron Syndrome or GH insensibility and treated with IGF-1 substitutive therapy...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/29025428/compound-heterozygosity-for-two-ghr-missense-mutations-in-a-patient-affected-by-laron-syndrome-a-case-report
#16
Stefania Moia, Daniele Tessaris, Silvia Einaudi, Luisa de Sanctis, Gianni Bona, Simonetta Bellone, Flavia Prodam
BACKGROUND: Mutations localized in the Growth Hormone Receptor (GHR) gene are often associated with the pathogenesis of Laron Syndrome, an autosomal recessive hereditary disorder characterized by severe growth retardation. Biochemically, patients present normal to high circulating GH levels, in presence of very low or undetectable IGF-I levels, which do not rise after rhGH treatment. CASE PRESENTATION: We describe the case of a 3.8 years old girl with symmetrical short stature (-3...
October 12, 2017: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/28743110/clinical-endocrine-and-molecular-genetic-analysis-of-a-large-cohort-of-saudi-arabian-patients-with-laron-syndrome
#17
Abdullah A Al-Ashwal, Afaf Al-Sagheir, Khushnooda Ramzan, Mohammed Al-Owain, Rabab Allam, Alya Qari, Nouf S Al-Numair, Faiqa Imtiaz
BACKGROUND/AIMS: Laron syndrome (LS) is an autosomal recessive disease characterized by marked short stature and very low serum IGF-1 and IGFBP-3 levels. This study assessed the clinical and endocrine features alongside determining the growth hormone receptor gene (GHR) mutation in Saudi Arabian patients with LS in order to establish whether or not a genotype/phenotype correlation is evident in this large cohort. SUBJECTS AND METHODS: A total of 40 Saudi Arabian patients with a suspected diagnosis of LS were recruited and subjected to a full clinical and endocrine investigation together with direct sequencing of the coding regions of the GHR gene...
2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28530071/-epidemiology-of-over-active-bladder-oab-syndrome
#18
REVIEW
Tamar Eshkoli, David Yohai, Elad Laron, Adi Y Weintraub
An over-active bladder is a common disorder which influences women's health and quality of life. There is difficulty defining the exact prevalence of the disorder since there are various definitions in the literature. The ICS definition from 2002 on the over-active bladder (OAB) syndrome enables more uniformity, by declaring that OAB syndrome is a symptomatic syndrome defined as presence of urgency with or without urinary incontinence, mostly accompanied by frequency and nocturia. In this article we reviewed the current medical literature on the prevalence of the OAB syndrome by focusing on relevant crosssectional and longitudinal studies, the trend changes during life, co-morbidities, the influence of quality of life and the economic burden following the disorder and its treatment...
November 2016: Harefuah
https://www.readbyqxmd.com/read/28528685/igf-i-deficiency-longevity-and-cancer-protection-of-patients-with-laron-syndrome
#19
REVIEW
Zvi Laron, Rivka Kauli, Lena Lapkina, Haim Werner
Laron syndrome (LS) is a unique model of congenital IGF-I deficiency. It is characterized by dwarfism and obesity, and is caused by deletion or mutations of the growth hormone receptor (GH-R) gene. It is hypothesized that LS is an old disease originating in Indonesia and that the mutated gene spread to South Asia, the Middle East, the Mediterranean region and South America.
April 2017: Mutation Research. Reviews in Mutation Research
https://www.readbyqxmd.com/read/28502327/fanconi-anemia-and-laron-syndrome
#20
Inma Castilla-Cortazar, Julieta Rodriguez de Ita, Gabriel Amador Aguirre, Fabiola Castorena-Torres, Jesús Ortiz-Urbina, Mariano García-Magariño, Rocío García de la Garza, Carlos Diaz Olachea, Martha Irma Elizondo Leal
BACKGROUND: Fanconi anemia (FA) is a condition characterized by genetic instability and short stature, which is due to growth hormone (GH) deficiency in most cases. However, no apparent relationships have been identified between FA complementation group genes and GH. In this study, we thereby considered an association between FA and Laron syndrome (LS) (insulin-like growth factor 1 [IGF-1] deficiency). METHODS: A 21-year-old female Mexican patient with a genetic diagnosis of FA was referred to our research department for an evaluation of her short stature...
May 2017: American Journal of the Medical Sciences
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