4.4 Review

The Effect of the Exon-3-Deleted Growth Hormone Receptor on Pegvisomant-Treated Acromegaly: A Systematic Review and Meta-Analysis

期刊

NEUROENDOCRINOLOGY
卷 105, 期 2, 页码 131-140

出版社

KARGER
DOI: 10.1159/000448844

关键词

Acromegaly; Pegvisomant; Polymorphism; Growth hormone receptor; Deletion of exon 3; Meta-analysis

资金

  1. Novartis
  2. Pfizer
  3. Ipsen

向作者/读者索取更多资源

Background: The common exon 3 deletion polymorphism of the growth hormone receptor (d3-GHR) is associated with disease severity in acromegaly patients. The GHR antagonist pegvisomant (PEGV) is highly effective in treating severe acromegaly. Response to PEGV treatment seems to be influenced by d3-GHR and appears to be more responsive to PEGV, although available results remain conflicting. Objective: To assess the influence of d3-GHR on the responsiveness of acromegaly patients to PEGV by compiling the evidence derived from the largest available studies. Design: A systematic review of the literature identified three published studies and one conference abstract. Acromegaly patients (n = 324, 49.7% d3-GHR carriers) were treated with either PEGV monotherapy or PEGV combined with long-acting somatostatin analogues and/or cabergoline. A meta-analysis of raw data from these studies was performed. Results: No significant effect of the d3-GHR was observed while bringing insulin-like growth factor I (IGF-I) levels below the upper limit of normal with PEGV, which was defined as the lowest IGF-I level during PEGV treatment (mean difference: -2.3%; 95% CI: -6.5 to 1.8, p = 0.270). The PEGV dose required to achieve the lowest IGF-I levels was also not significantly influenced by individuals carrying d3-GHR (mean difference: 4.1 mg weekly; 95% CI: -5.1 to 13.2, p = 0.385). For both outcomes, separate analysis of PEGV monotherapy and combination treatment gave similar results. Conclusion: Our findings suggest that the d3-GHR polymorphism has no effect on biochemical disease control in acromegaly, as it is not of added value for either the prediction of PEGV responsiveness or the determination of the required PEGV dose. (C) 2016 The Author(s) Published by S. Karger AG, Basel

作者

我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。

评论

主要评分

4.4
评分不足

次要评分

新颖性
-
重要性
-
科学严谨性
-
评价这篇论文

推荐

Article Endocrinology & Metabolism

Treatment of acromegaly has substantial effects on body composition: a long-term follow-up study

Peter Wolf, Sylvie Salenave, Emmanuel Durand, Jacques Young, Peter Kamenicky, Philippe Chanson, Luigi Maione

Summary: The treatment of acromegaly strongly affects body composition until biochemical disease remission, characterized by an increase in fat mass and a decrease in lean mass. These changes are closely associated with the normalization of IGF-I and are independent of individual therapy.

EUROPEAN JOURNAL OF ENDOCRINOLOGY (2022)

Article Biochemistry & Molecular Biology

Implications of Heterogeneity of Epithelial-Mesenchymal States in Acromegaly Therapeutic Pharmacologic Response

Joan Gil, Montserrat Marques-Pamies, Elena Valassi, Araceli Garcia-Martinez, Guillermo Serra, Cristina Hostalot, Carmen Fajardo-Montanana, Cristina Carrato, Ignacio Bernabeu, Monica Marazuela, Helena Rodriguez-Lloveras, Rosa Camara, Isabel Salinas, Cristina Lamas, Betina Biagetti, Andreu Simo-Servat, Susan M. Webb, Antonio Pico, Mireia Jorda, Manel Puig-Domingo

Summary: Acromegaly is a condition caused by excessive growth hormone production due to a pituitary tumor. This study examines the relationship between epithelial-mesenchymal transition (EMT) and resistance to somatostatin receptor ligands (SRLs) in GH-producing tumors. The findings suggest that EMT-related gene expression patterns are heterogeneous, which may explain the varying responses to SRLs.

BIOMEDICINES (2022)

Review Endocrinology & Metabolism

High Bone Mass Disorders: New Insights From Connecting the Clinic and the Bench

Dylan J. M. Bergen, Antonio Maurizi, Melissa M. Formosa, Georgina L. K. McDonald, Ahmed El-Gazzar, Neelam Hassan, Maria-Luisa Brandi, Jose A. Riancho, Fernando Rivadeneira, Evangelia Ntzani, Emma L. Duncan, Celia L. Gregson, Douglas P. Kiel, M. Carola Zillikens, Luca Sangiorgi, Wolfgang Hogler, Ivan Duran, Outi Makitie, Wim Van Hul, Gretl Hendrickx

Summary: This article describes 59 high bone mass disorders and their underlying genetic causes, with a focus on the signaling pathways and mechanisms involved. The authors classify the known genes into subgroups based on a uniform Gene Ontology terminology, providing potential insights for experimental design and genetic screening. Additionally, the authors discuss the application of functional genomics in discovering new genes and mechanisms in high bone mass disorders, highlighting the importance of multidisciplinary collaborations and knowledge transfer from the laboratory to the clinic. (c) 2022 The Authors. Journal of Bone and Mineral Research published by Wiley Periodicals LLC on behalf of American Society for Bone and Mineral Research (ASBMR).

JOURNAL OF BONE AND MINERAL RESEARCH (2023)

Article Obstetrics & Gynecology

Combining metabolomics and machine learning models as a tool to distinguish non-classic 21-hydroxylase deficiency from polycystic ovary syndrome without adrenocorticotropic hormone testing

Guillaume Bachelot, Anne Bachelot, Marion Bonnier, Joe-Elie Salem, Dominique Farabos, Severine Trabado, Charlotte Dupont, Peter Kamenicky, Muriel Houang, Jean Fiet, Yves Le Bouc, Jacques Young, Antonin Lamaziere

Summary: A combination of metabolomic signature and machine learning models can distinguish nonclassic 21-hydroxylase deficiency from polycystic ovary syndrome without adrenocorticotrophic hormone testing. A single sampling methodology may be used to exclude the diagnosis of nonclassic 21-hydroxylase deficiency in the presence of a clinical hyperandrogenic presentation at any time of the menstrual cycle. Cosyntropin stimulation remains the gold standard diagnosis of nonclassic 21-hydroxylase deficiency.

HUMAN REPRODUCTION (2023)

Review Endocrinology & Metabolism

Glucocorticoids, stress and eating: The mediating role of appetite-regulating hormones

Susanne Kuckuck, Eline S. van Der Valk, Anton J. W. Scheurink, Bibian van Der Voorn, Anand M. Iyer, Jenny A. Visser, Patric J. D. Delhanty, Sjoerd A. A. van den Berg, Elisabeth F. C. van Rossum

Summary: Disrupted hormonal appetite signaling plays a crucial role in obesity, and glucocorticoid excess may impair appetite signaling and eating control. Counteracting glucocorticoid excess is a crucial target for obesity prevention and treatment, as it can improve appetite signaling and potentially have positive effects on cardio-metabolic outcomes and mood.

OBESITY REVIEWS (2023)

Article Obstetrics & Gynecology

Association between prenatal alcohol exposure and children's facial shape: a prospective population-based cohort study

X. Liu, M. Kayser, S. A. Kushner, H. Tiemeier, F. Rivadeneira, V. W. V. Jaddoe, W. J. Niessen, E. B. Wolvius, G. Roshchupkin

Summary: This study found that low-to-moderate levels of prenatal alcohol exposure (PAE) were associated with children's facial shape, even at levels below 12 g of alcohol per week. However, this association diminished as children grew older.

HUMAN REPRODUCTION (2023)

Article Endocrinology & Metabolism

Mortality in Acromegaly Diagnosed in Older Individuals in Spain Is Higher in Women Compared to the General Spanish Population

Betina Biagetti, Pedro Iglesias, Rocio Villar-Taibo, Maria-Dolores Moure, Miguel Paja, Marta Araujo-Castro, Jessica Ares, Cristina Alvarez-Escola, Almudena Vicente, Elia Alvarez Guivernau, Iria Novoa-Testa, Fernando Guerrero Perez, Rosa Camara, Beatriz Lecumberri, Carlos Garcia Gomez, Ignacio Bernabeu, Laura Manjon, Sonia Gaztambide, Fernando Cordido, Susan M. Webb, Edelmiro Luis Menendez-Torre, Juan J. Diez, Rafael Simo, Manel Puig-Domingo

Summary: This study compared the clinical characteristics, comorbidities, treatment approaches, and mortality rate of patients diagnosed with acromegaly before or after 2010 and compared the overall mortality rate with the general Spanish population. The results showed no significant difference in mortality rate among acromegaly patients diagnosed at age 65 or older, and no significant difference compared to the general population in Spain.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2023)

Article Rheumatology

Benefit of burosumab in adults with X-linked hypophosphataemia (XLH) is maintained with long-term treatment

Peter Kamenicky, Karine Briot, Maria Luisa Brandi, Martine Cohen-Solal, Rachel K. Crowley, Richard Keen, Sami Kolta, Robin H. Lachmann, Anne-Lise Lecoq, Stuart H. Ralston, Jennifer S. Walsh, Angela J. Rylands, Angela Williams, Wei Sun, Annabel Nixon, Mark Nixon, Muhammad K. Javaid

Summary: The study aimed to report the impact of continued burosumab treatment on clinical laboratory tests, patient-reported outcomes, and ambulatory function in adults with X-linked hypophosphataemia. Results showed that improvements in serum phosphate, serum 1,25 dihydroxyvitamin D, and renal phosphate reabsorption were maintained during the extension period. Additionally, improvements were observed in stiffness and physical function, pain and fatigue symptoms, and ambulatory function.

RMD OPEN (2023)

Article Endocrinology & Metabolism

Position statement on the diagnosis and management of acromegaly: The French National Diagnosis and Treatment Protocol (NDTP)

Thierry Brue, Haifa Rahabi, Abdoulaye Barry, Anne Barlier, Jerome Bertherat, Francoise Borson-Chazot, Frederic Castinetti, Laure Cazabat, Olivier Chabre, Nicolas Chevalier, Sophie Christin-Maitre, Christine Cortet, Delphine Drui, Peter Kamenicky, Catherine Lancon, Frederic Liote, Isabelle Pellegrini, Rachel Reynaud, Sylvie Salenave, Igor Tauverono, Philippe Tourainep, Marie-Christine Vantyghem, Bruno Verges, Delphine Vezzosi, Chiara Villas, Gerald Raverotd, Regis Coutantt, Philippe Chansonk, Frederique Albarela

Summary: Acromegaly is a rare disease with a slight female predominance and peak onset in adults in the fourth decade. The clinical diagnosis is often delayed due to the slowly progressive onset of symptoms. Multiple clinical criteria define acromegaly, and imaging by pituitary MRI is used to identify the causal tumor for better management. Surgical removal of the tumor is the first-line treatment, with medical treatments used when surgery is not effective. In some cases, acromegaly may be linked to a genetic predisposition.

ANNALES D ENDOCRINOLOGIE (2023)

Article Endocrinology & Metabolism

Longitudinal changes in acylated versus unacylated ghrelin levels may be involved in the underlying mechanisms of the switch in nutritional phases in Prader-Willi syndrome

Lionne N. Grootjen, Gwenaelle Diene, Catherine Molinas, Veronique Beauloye, T. Martin Huisman, Jenny A. Visser, Patric J. D. Delhanty, Gerthe F. Kerkhof, Maithe Tauber, Anita C. S. Hokken-Koelega

Summary: Children with Prader-Willi syndrome show a gradual increase in the AG/UAG ratio as they age, with AG levels remaining stable and UAG levels decreasing throughout different nutritional phases. The increase in AG/UAG ratio occurs before the onset of excessive weight gain and hyperphagia in children with PWS.

HORMONE RESEARCH IN PAEDIATRICS (2023)

Article Neurosciences

Executive summary of the expert consensus document from the Spanish Society of Neurosurgery and the Spanish Society of Endocrinology and Nutrition: Clinical recommendations on the perioperative management of pituitary tumors

Marta Araujo-Castroa, Victor Rodriguez-Berrocalb, Elena Diosc, Ramon Serramitod, Betina e Bernabeuf, e Ignacio Bernabeuf

Summary: Pituitary tumors, accounting for 15% of intracranial tumors, require surgical treatment for hormone hypersecretion and neurological symptoms. Multidisciplinary care is crucial and should be delivered in a center of excellence with a well-defined care protocol.

NEUROCIRUGIA (2023)

Article Respiratory System

Oral corticosteroid use and sarcopenia-related traits in older people with chronic airway disease: a population-based study

Elizabeth Benz, Lies Lahousse, Johnmary T. Arinze, Sara Wijnant, Maria de Ridder, Fernando Rivadeneira, Guy Brusselle, Bruno H. Stricker

Summary: This study aimed to investigate the association between the use of OCS and muscle strength and mass in older people, as well as its interaction with chronic airway diseases. The results showed that OCS use was associated with a decline in handgrip strength in people with COPD, and this association was dependent on the frequency and duration of OCS use.

ERJ OPEN RESEARCH (2023)

Article Endocrinology & Metabolism

Hypopituitarism after traumatic brain injury in adults: Clinical guidelines of the neuroendocrinology area of the Spanish Society of Endocrinology and Nutrition (SEEN)

Eva Fernandez Rodriguez, Roclo Villar Taibo, Ignacio Bernabeu

Summary: Traumatic brain injury (TBI) is associated with hypopituitarism which can lead to various clinical manifestations. It is important to determine which patients require hormonal evaluation and replacement therapy, as well as the appropriate timing and methods for diagnosis.

ENDOCRINOLOGIA DIABETES Y NUTRICION (2023)

Article Health Care Sciences & Services

Differentiating pathologic parathyroid glands from thyroid nodules on neck ultrasound: the PARATH-US cross-sectional study

Dolly Yazgi, Carine Richa, Sylvie Salenave, Peter Kamenicky, Amel Bourouina, Lorraine Clavier, Margot Dupeux, Jean-Francois Papon, Jacques Young, Philippe Chanson, Luigi Maione

Summary: Neck ultrasound (US) is a useful tool in distinguishing parathyroid glands (PPGs) from thyroid nodules. This study demonstrates distinct US characteristics of PPGs that can help differentiate them from thyroid nodules. High-risk cervical lesions detected in US may actually be PPGs with similar features.

LANCET REGIONAL HEALTH-EUROPE (2023)

Meeting Abstract Biochemistry & Molecular Biology

Detection of pathogenic mutations in breast cancer genes by GSAMD and PMDA array platforms

Annemieke J. M. H. Verkerk, Jeroen van Rooij, Jard de Vries, Ans M. W. van de Ouweland, Maartje J. Hooning, Linda Broer, Willemina R. R. Geurts-Giele, Robert M. van der Helm, Robert M. W. Hofstra, Marieke F. van Dooren, J. Margriet Collee, E. H. Hoefsloot, Andre G. Uitterlinden, Joyce B. van Meurs

EUROPEAN JOURNAL OF HUMAN GENETICS (2022)

暂无数据