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Laron syndrome

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https://www.readbyqxmd.com/read/29238946/papp-a2-a-new-key-regulator-of-growth
#1
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
#2
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...
November 24, 2017: 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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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: Mutat Res Rev Mutat Res
https://www.readbyqxmd.com/read/28502327/fanconi-anemia-and-laron-syndrome
#9
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
https://www.readbyqxmd.com/read/28457105/fifty-years-on-new-lessons-from-laron-syndrome
#10
Haim Werner, Lena Lapkina-Gendler, Zvi Laron
No abstract text is available yet for this article.
January 2017: Israel Medical Association Journal: IMAJ
https://www.readbyqxmd.com/read/28073935/brain-structure-and-function-associated-with-younger-adults-in-growth-hormone-receptor-deficient-humans
#11
Kaoru Nashiro, Jaime Guevara-Aguirre, Meredith N Braskie, George W Hafzalla, Rico Velasco, Priya Balasubramanian, 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 MRI, we compared brain structure, function, and connectivity between 13 people with GHRD and 12 unaffected relatives...
February 15, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/27728225/laron-syndrome
#12
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
https://www.readbyqxmd.com/read/27381597/clinical-and-molecular-features-of-laron-syndrome-a-genetic-disorder-protecting-from-cancer
#13
REVIEW
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
https://www.readbyqxmd.com/read/27090428/identification-of-signaling-pathways-associated-with-cancer-protection-in-laron-syndrome
#14
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
https://www.readbyqxmd.com/read/26703237/stat5b-deficiency-impacts-on-human-growth-and-immunity
#15
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
https://www.readbyqxmd.com/read/26564390/-laron-syndrome-presentation-treatment-and-prognosis
#16
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
https://www.readbyqxmd.com/read/26522453/growth-hormone-binding-protein-physiological-and-analytical-aspects
#17
REVIEW
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
https://www.readbyqxmd.com/read/26511035/generation-of-a-miniature-pig-disease-model-for-human-laron-syndrome
#18
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
https://www.readbyqxmd.com/read/26510874/transgenic-wuzhishan-minipigs-designed-to-express-a-dominant-negative-porcine-growth-hormone-receptor-display-small-stature-and-a-perturbed-insulin-igf-1-pathway
#19
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
https://www.readbyqxmd.com/read/26401581/lessons-from-50-years-of-study-of-laron-syndrome
#20
REVIEW
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
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