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The New England Journal of Medicine Apr 1990
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Frontiers in Endocrinology 2022Ectopic acromegaly is a rare condition caused most frequently by growth hormone releasing hormone (GHRH) secretion from neuroendocrine tumors. The diagnosis is often... (Review)
Review
INTRODUCTION
Ectopic acromegaly is a rare condition caused most frequently by growth hormone releasing hormone (GHRH) secretion from neuroendocrine tumors. The diagnosis is often difficult to establish as its main symptoms do not differ from those of acromegaly of pituitary origin.
OBJECTIVES
To determine most common clinical features and diagnostic challenges in ectopic acromegaly.
PATIENTS AND METHODS
A search for ectopic acromegaly cases available in literature was performed using PubMed, Cochrane, and MEDline database. In this article, 127 cases of ectopic acromegaly described after GHRH isolation in 1982 are comprehensively reviewed, along with a summary of current state of knowledge on its clinical features, diagnostic methods, and treatment modalities. The most important data were compiled and compared in the tables.
RESULTS
Neuroendocrine tumors were confirmed in 119 out of 121 patients with histopathological evaluation, mostly of lung and pancreatic origin. Clinical manifestation comprise symptoms associated with pituitary hyperplasia, such as headache or visual field disturbances, as well as typical signs of acromegaly. Other endocrinopathies may also be present depending on the tumor type. Definitive diagnosis of ectopic acromegaly requires confirmation of GHRH secretion from a tumor using either histopathological methods or GHRH plasma concentration assessment. Hormonal evaluation was available for 84 patients (66%) and histopathological confirmation for 99 cases (78%). Complete tumor resection was the main treatment method for most patients as it is a treatment of choice due to its highest effectiveness. When not feasible, somatostatin receptor ligands (SRL) therapy is the preferred treatment option. Prognosis is relatively favorable for neuroendocrine GHRH-secreting tumors with high survival rate.
CONCLUSION
Although ectopic acromegaly remains a rare disease, one should be aware of it as a possible differential diagnosis in patients presenting with additional symptoms or those not responding to classic treatment of acromegaly.
Topics: Acromegaly; Diagnosis, Differential; Growth Hormone-Releasing Hormone; Humans; Neuroendocrine Tumors; Prognosis
PubMed: 35757397
DOI: 10.3389/fendo.2022.867965 -
Current Opinion in Endocrinology,... Aug 2021Discuss recent literature regarding clinical manifestations and comorbidities in acromegaly, with focus on early diagnosis and customized care. (Review)
Review
PURPOSE OF REVIEW
Discuss recent literature regarding clinical manifestations and comorbidities in acromegaly, with focus on early diagnosis and customized care.
RECENT FINDINGS
The mean interval between onset of clinical manifestations and diagnosis is currently 3-5 years. Women, especially younger than 50 years of age, experience longer delays, have lower insulin-like growth factor 1 (IGF-1) levels and larger tumors than men. Development of comorbidities usually precedes the diagnosis and is influenced by age, sex, and biochemical disease activity. Comorbidities other than irreversible osteoarticular structural changes usually improve after acromegaly treatment. In patients with diabetes, the course of hyperglycemia not only depends on biochemical control but also on specific acromegaly therapies. Quality of life is influenced by sex, as well as by acromegaly symptoms, biochemical activity, and treatment. Quality of life remains lower than general population despite biochemical remission.
SUMMARY
Early diagnosis can be achieved by suspecting acromegaly based on suggestive clinical scenarios rather than obvious changes in appearance. Personalized care entails a proactive multidisciplinary approach to identify and treat comorbidities while carefully monitoring the effects of acromegaly treatment.
Topics: Acromegaly; Comorbidity; Humans; Precision Medicine; Quality of Life; Treatment Outcome
PubMed: 34101652
DOI: 10.1097/MED.0000000000000650 -
Endocrinology and Metabolism Clinics of... Dec 2022Acromegaly has a substantial negative impact on quality of life (QoL). This review aims to discuss the impact of acromegaly on QoL from the clinical perspective as well... (Review)
Review
Acromegaly has a substantial negative impact on quality of life (QoL). This review aims to discuss the impact of acromegaly on QoL from the clinical perspective as well as from the patient perspective. Furthermore, it aims to evaluate the use of patient-reported outcome measures (PROMs) in acromegaly and how PROMs aid decision-making. The recommendations presented in this review are based on recent clinical evidence on the impact of acromegaly on QoL combined with the authors' own clinical experience treating patients with acromegaly. We recommend that a patient-centered approach should be considered in treatment decisions, integrating conventional biochemical outcomes, tumor control, comorbidities, treatment complications, and PROMs, including QoL measures. This more integrated approach seems effective in treating comorbidities and improving patient-reported outcomes and is critical, as many patients do not achieve biochemical or tumor control and comorbidities, impairment in QoL may not remit even when full biochemical control is achieved.
Topics: Acromegaly; Comorbidity; Humans; Quality of Life
PubMed: 36244688
DOI: 10.1016/j.ecl.2022.04.004 -
Pituitary Feb 2017Acromegaly is a rare and underdiagnosed disorder caused, in more than 95% of cases, by a growth hormone (GH)-secreting pituitary adenoma. The GH hypersecretion leads to... (Review)
Review
BACKGROUND
Acromegaly is a rare and underdiagnosed disorder caused, in more than 95% of cases, by a growth hormone (GH)-secreting pituitary adenoma. The GH hypersecretion leads to overproduction of insulin-like growth factor 1 (IGF-1) which results in a multisystem disease characterized by somatic overgrowth, multiple comorbidities, physical disfigurement, and increased mortality.
OBJECTIVE
This article aims to review the clinical features of acromegaly at diagnosis.
DISCUSSION/CONCLUSION
Acromegaly affects both males and females equally and the average age at diagnosis ranges from 40 to 50 years (up to 5% of cases < the age 20). Due to insidious onset and slow progression, acromegaly is often diagnosed five to more than ten years after its onset. The typical coarsening of facial features include furrowing of fronthead, pronounced brow protrusion, enlargement of the nose and the ears, thickening of the lips, skin wrinkles and nasolabial folds, as well as mandibular prognathism that leads to dental malocclusion and increased interdental spacing. Excessive growth of hands and feet (predominantly due to soft tissue swelling) is present in the vast majority of acromegalic patients. Gigantism accounts for up to 5% of cases and occurs when the excess of GH becomes manifest in the young, before the epiphyseal fusion. The disease also has rheumatologic, cardiovascular, respiratory, neoplastic, neurological, and metabolic manifestations which negatively impact its prognosis and patients quality of life. Less than 15% of acromegalic patients actively seek medical attention for change in appearance or enlargement of the extremities. The presentation of acromegaly is more often related to its systemic comorbidities or to local tumor effects.
Topics: Acromegaly; Female; Gigantism; Humans; Male
PubMed: 27812777
DOI: 10.1007/s11102-016-0772-8 -
Endocrinology and Metabolism (Seoul,... Oct 2023The clinical characteristics and prognoses of acromegaly vary among patients. Assessment of current and novel predictors can lead to multilevel categorization of... (Review)
Review
The clinical characteristics and prognoses of acromegaly vary among patients. Assessment of current and novel predictors can lead to multilevel categorization of patients, allowing integration into new clinical guidelines and a reduction in the increased morbidity and mortality associated with acromegaly. Despite advances in the diagnosis and treatment of acromegaly, its pathophysiology remains unclear. Recent advancements in multiomics technologies, including genomics, transcriptomics, proteomics, metabolomics, and radiomics, have offered new opportunities to unravel the complex pathophysiology of acromegaly. This review comprehensively explores the emerging role of multiomics approaches in elucidating the molecular landscape of acromegaly. We discuss the potential implications of multiomics data integration in the development of novel diagnostic tools, identification of therapeutic targets, and the prospects of precision medicine in acromegaly management. By integrating diverse omics datasets, these approaches can provide valuable insights into disease mechanisms, facilitate the identification of diagnostic biomarkers, and identify potential therapeutic targets for precision medicine in the management of acromegaly.
Topics: Humans; Acromegaly; Multiomics; Precision Medicine; Proteomics; Genomics
PubMed: 37828709
DOI: 10.3803/EnM.2023.1820 -
Archives of Medical Research Dec 2023Pegvisomant, the first and currently only clinically available growth hormone receptor antagonist, is an effective therapeutic option for the medical treatment of... (Review)
Review
Pegvisomant, the first and currently only clinically available growth hormone receptor antagonist, is an effective therapeutic option for the medical treatment of acromegaly, a rare disorder characterized by excessive growth hormone secretion. With now over 20 years of real world experience, its safety and efficacy is well-established. However, several aspects of its clinical use are still controversially discussed. The high cost of pegvisomant has limited its use in several countries, and recent studies have reported a lower efficacy than the initial clinical trials. A reported increase in tumor volume under therapy varies between studies and has been attributed to either actual growth or re-expansion after cessation of somatostatin receptor ligand therapy. Furthermore, different combinations of pegvisomant and other therapeutic agents aiming at reduction of acromegaly disease activity have been proposed to increase or retain effectiveness while lowering side effects and cost. This review aims to assess current clinical data on the safety and efficacy of pegvisomant while also addressing controversies surrounding its use.
Topics: Humans; Acromegaly; Receptors, Somatotropin; Human Growth Hormone; Hormone Antagonists; Insulin-Like Growth Factor I
PubMed: 37659952
DOI: 10.1016/j.arcmed.2023.102884 -
Growth Hormone & IGF Research :... Jun 2024Acromegaly is a disorder associated with excessive levels of growth hormone (GH) and insulin-like growth factor-1 (IGF-1). In general, GH/IGF-1 excess leads to... (Review)
Review
OBJECTIVE
Acromegaly is a disorder associated with excessive levels of growth hormone (GH) and insulin-like growth factor-1 (IGF-1). In general, GH/IGF-1 excess leads to morphologic craniofacial and acral changes as well as cardiometabolic complications, but the phenotypic changes and clinical presentation of acromegaly differ across species. Here, we review the pathophysiology, clinical presentation and management of acromegaly in humans and cats, and we provide a systematic comparison between this disease across these different species.
DESIGN
A comprehensive literature review of pathophysiology, clinical features, diagnosis and management of acromegaly in humans and in cats was performed.
RESULTS
Acromegaly is associated with prominent craniofacial changes in both species: frontal bossing, enlarged nose, ears and lips, and protuberant cheekbones are typically encountered in humans, whereas increased width of the head and skull enlargement are commonly found in cats. Malocclusion, prognathism, dental diastema and upper airway obstruction by soft tissue enlargement are reported in both species, as well as continuous growth and widening of extremities resulting in osteoarticular compromise. Increase of articular joint cartilage thickness, vertebral fractures and spine malalignment is more evident in humans, while arthropathy and spondylosis deformans may also occur in cats. Generalized organomegaly is equally observed in both species. Other similarities between humans and cats with acromegaly include heart failure, ventricular hypertrophy, diabetes mellitus, and an overall increased cardiometabolic risk. In GH-secreting pituitary tumours, local compressive effects and behavioral changes are mostly observed in humans, but also present in cats. Cutis verticis gyrata and skin tags are exclusively found in humans, while palmigrade/plantigrade stance may occur in some acromegalic cats. Serum IGF-1 is used for acromegaly diagnosis in both species, but an oral glucose tolerance test with GH measurement is only useful in humans, as glucose load does not inhibit GH secretion in cats. Imaging studies are regularly performed in both species after biochemical diagnosis of acromegaly. Hypophysectomy is the first line treatment for humans and cats, although not always available in veterinary medicine.
CONCLUSION
Acromegaly in humans and cats has substantial similarities, as a result of common pathophysiological mechanisms, however species-specific features may be found.
Topics: Acromegaly; Cats; Humans; Animals; Insulin-Like Growth Factor I; Cat Diseases
PubMed: 38810595
DOI: 10.1016/j.ghir.2024.101595 -
The Journal of Clinical Endocrinology... Jun 2014McCune-Albright syndrome (MAS) includes the triad of poly/monostotic fibrous dysplasia, café-au-lait spots, and hyperfunctioning endocrinopathies. Acromegaly affects... (Review)
Review
BACKGROUND
McCune-Albright syndrome (MAS) includes the triad of poly/monostotic fibrous dysplasia, café-au-lait spots, and hyperfunctioning endocrinopathies. Acromegaly affects around 20% of MAS patients.
AIMS
The objective was to review all reported cases of acromegaly associated with MAS.
METHODS
All studies and case reports of acromegaly in patients with MAS were systematically sought in the world literature up to January 2013. We also included new data (from three unreported cases) and updated data on 23 previously reported patients from our two centers.
RESULTS
We reviewed the cases of 112 patients (65 males). Mean age at diagnosis of acromegaly was 24.4 years (range, 3-64). Among the 40 pediatric patients, 23 (57%) had precocious puberty. GH/IGF-1 excess was suggested by accelerated growth in 85% of pediatric cases. Acromegaly was almost always associated with skull base fibrous dysplasia. Modern imaging techniques (computed tomography or magnetic resonance imaging) revealed an adenoma in 54% of the patients (macroadenoma in more than two-thirds). Median GH levels and mean IGF-1 SD score at diagnosis were 57 μg/L (2.8 to 291 μg/L) and 8 (2.3 to 24), respectively. Hyperprolactinemia was present in 81% (mean, 149 μg/L; range, 21-600). Pituitary surgery, performed in 25 cases, very rarely cured the GH/IGF-1 excess. Somatostatin analogs improved GH/IGF-1 levels in most patients but achieved control of acromegaly in only 17 (30%) of 56 patients. Pegvisomant achieved normal IGF-1 levels in 10 of 13 cases.
CONCLUSION
Acromegaly, which is present in 20-30% of patients with MAS, raises particular diagnostic and therapeutic issues.
Topics: Acromegaly; Adolescent; Adult; Child; Child, Preschool; Female; Fibrous Dysplasia, Polyostotic; Humans; Male; Middle Aged; Young Adult
PubMed: 24517150
DOI: 10.1210/jc.2013-3826 -
BMJ (Clinical Research Ed.) Aug 2010
Review
Topics: Acromegaly; Adult; Diagnostic Errors; Female; Humans; Male; Middle Aged
PubMed: 20713585
DOI: 10.1136/bmj.c4189