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Growth Hormone & IGF Research :... Oct 2022Acromegaly is a disorder caused by hypersecretion of growth hormone (GH), resulting in excessive levels of insulin-like growth factor 1 (IGF-1), and almost always due to... (Review)
Review
OBJECTIVE
Acromegaly is a disorder caused by hypersecretion of growth hormone (GH), resulting in excessive levels of insulin-like growth factor 1 (IGF-1), and almost always due to a pituitary tumor. It is classically associated with acral enlargement, prominent facial features and soft tissue overgrowth. Skin manifestations include hirsutism, acne, skin tags, oily skin and acanthosis nigricans. However, other uncommon dermatological features, such as cutis verticis gyrata (CVG), may also occur. Here, we review acromegaly-related CVG aiming to raise awareness for its possible occurrence in this setting, and we discuss its pathophysiology, presentation, management and differential diagnosis.
DESIGN
A comprehensive literature search regarding CVG, particularly CVG related to acromegaly, has been carried out. Case reports, original studies and review papers, were considered.
RESULTS
CVG is a rare benign skin lesion characterized by thickened and folded scalp, resembling the brain gyri and sulci. The diagnosis of CVG mainly relies on clinical examination, although tissue biopsy may be necessary in case of uncertain etiology. In acromegaly, CVG appears to be driven by the trophic effects of GH and IGF-1 on skin and soft tissues. While CVG is uncommon in acromegaly, it seems to occur more frequently in male patients. The management of acromegaly-related CVG essentially relies on controlling the serum levels of GH and IGF-1. Surgical skin procedures should be reserved for patients with severe aesthetic distress, after achieving the best possible control of acromegaly.
CONCLUSIONS
CVG is a rare manifestation of acromegaly that may allow an earlier diagnosis and a swifter treatment of these patients, which in turn may improve or entirely reverse such remarkable skin lesions.
Topics: Humans; Male; Acromegaly; Insulin-Like Growth Factor I; Skin; Scalp
PubMed: 35917639
DOI: 10.1016/j.ghir.2022.101497 -
Frontiers in Endocrinology 2022Acromegaly is a rare condition typically caused by benign pituitary adenomas, resulting in excessive production of growth hormone. Clinical manifestations of acromegaly... (Review)
Review
Acromegaly is a rare condition typically caused by benign pituitary adenomas, resulting in excessive production of growth hormone. Clinical manifestations of acromegaly are diverse, varying from the overgrowth of body tissue to cardiovascular, metabolic, and osteoarticular disorders. Symptoms may emerge slowly, overlapping with other diseases and often involve many different healthcare specialists. In the last decade, efforts to provide an accurate and timely diagnosis of acromegaly have improved disease management and clinical experience. Despite this progress, marked differences in the diagnosis, treatment, and management of acromegaly exist from country-to-country. To address these inconsistencies in the region comprising Central and Eastern Europe, Israel, and Kazakhstan, a panel of acromegaly experts from 13 of these countries was convened. Acromegaly experts from each country provided available information on the approaches from their country, including regional treatment centers and multidisciplinary teams, treatment access, reimbursement and availability, and physician education, disease awareness, and patient advocacy. Across several areas of acromegaly management, divergent approaches were identified and discussed, including the provision of multidisciplinary care, approved and available treatments, and disease awareness programs. These were recognized as areas of potential improvement in the management of acromegaly, in addition to participation in national and regional acromegaly registries. Further experience exchange will facilitate the identification of specific strategies that can be adapted in each country, and widespread participation in acromegaly registries will enable their evaluation. It is anticipated that this approach will support the optimization of acromegaly patient care across this region.
Topics: Acromegaly; Europe, Eastern; Growth Hormone; Humans; Israel; Kazakhstan
PubMed: 35273565
DOI: 10.3389/fendo.2022.816426 -
Journal of Endocrinological... Oct 2022Acromegaly is a rare chronic disease characterized by systemic comorbidity and reduced quality of life. Although achieving biochemical control has always been the... (Review)
Review
PURPOSE
Acromegaly is a rare chronic disease characterized by systemic comorbidity and reduced quality of life. Although achieving biochemical control has always been the primary goal of acromegaly therapy, recent evidence has shown that the traditional assessment does not adequately capture the complexity of symptoms and patients' perception. These findings result in the need to improve a fast decision-making process of the clinician, who should not only take into account biochemical-instrumental criteria, but also patients' symptoms. With the aim of supporting the clinician in the diagnostic and therapeutic decision-making process several disease-specific tools have been developed. The aim of this review is to provide a description of the acromegaly-specific tools, presenting their main features, their application in daily practice, and their efficacy and utility.
METHODS
A systematic search of Medline/PubMed, ISI-Web of Knowledge, and Google Scholar databases was done.
RESULTS
Specific instruments and questionnaires have recently been developed to assist clinicians in the assessment of acromegaly. These are either Patient-Reported Outcome tools, such as Acromegaly Quality of Life Questionnaire (AcroQoL) and Pain Assessment Acromegaly Symptom Questionnaire (PASQ), or Clinician-Reported Outcome tools, such as ACROSCORE, SAGIT and Acromegaly Disease Activity Tool (ACRODAT). Such tools are extremely flexible and, therefore, have been widely adopted by endocrinologists and other professionals, so much so that they have also been included as recommendations in the 2018 international guidelines.
CONCLUSION
Questionnaires and tools are useful in the management of acromegaly patients. They help clinicians evaluate patients' symptoms and could assist in the evaluation of disease activity.
Topics: Acromegaly; Comorbidity; Databases, Factual; Humans; Quality of Life; Surveys and Questionnaires
PubMed: 35322391
DOI: 10.1007/s40618-022-01782-x -
Endocrine Practice : Official Journal... Apr 2020
Topics: Acromegaly; Female; Humans; Middle Aged; Muscle, Skeletal; Surveys and Questionnaires
PubMed: 32293923
DOI: 10.4158/EP-2019-0166 -
European Heart Journal Apr 2022Cardiovascular disease is a common complication in acromegaly. We investigated the risk of cardiovascular disease and mortality in patients with acromegaly in a... (Observational Study)
Observational Study
AIMS
Cardiovascular disease is a common complication in acromegaly. We investigated the risk of cardiovascular disease and mortality in patients with acromegaly in a large-scale population using nationwide data in Korea.
METHODS AND RESULTS
We performed a nationwide, retrospective, observational, cohort study of patients with acromegaly (n = 1874) and age- and sex-matched subjects without acromegaly (n = 9370) for a mean follow-up of 7.5 ± 3.2 years. The study outcomes were myocardial infarction, stroke, atrial fibrillation, congestive heart failure, and all-cause death. All outcomes were analysed by Cox proportional hazards regression analysis while controlling for age, sex, household income, place, Type 2 diabetes, hypertension, and dyslipidaemia. The incidence (per 1000 person-years) of atrial fibrillation (3.06 vs. 1.70; P = 0.001), congestive heart failure (3.11 vs. 1.63; P < 0.001), and all-cause mortality (6.31 vs. 4.03; P < 0.001) in patients with acromegaly was higher than in controls. However, the incidence of myocardial infarction and stroke did not differ between groups. After adjustment for covariates, the risk for atrial fibrillation [hazard ratio (HR): 1.59; 95% confidence interval (CI): 1.09-2.31], congestive heart failure (HR: 1.54; 95% CI: 1.06-2.25), and all-cause mortality (HR: 1.31; 95% CI: 1.01-1.69) was significantly higher in patients with acromegaly. In time lag sensitivity analysis, a higher risk for atrial fibrillation was observed only in the first 4 years after diagnosis in acromegaly patients compared with controls (HR: 3.05; 95% CI: 1.94-4.79).
CONCLUSION
Patients with acromegaly were at higher risk for atrial fibrillation, congestive heart failure, and all-cause death. The risk of atrial fibrillation had a time-dependent association with acromegaly.
Topics: Acromegaly; Atrial Fibrillation; Cohort Studies; Diabetes Mellitus, Type 2; Heart Failure; Humans; Myocardial Infarction; Retrospective Studies; Risk Factors; Stroke
PubMed: 34864952
DOI: 10.1093/eurheartj/ehab822 -
Frontiers in Endocrinology 2023
Topics: Humans; Acromegaly; Growth Hormone-Secreting Pituitary Adenoma; Adenoma
PubMed: 37274350
DOI: 10.3389/fendo.2023.1214152 -
Pituitary Oct 2019Carney complex (CNC) is a rare autosomal dominant syndrome, characterized by mucocutaneous pigmentation, cardiac, cutaneous myxomas and endocrine overactivity. It is... (Review)
Review
PURPOSE
Carney complex (CNC) is a rare autosomal dominant syndrome, characterized by mucocutaneous pigmentation, cardiac, cutaneous myxomas and endocrine overactivity. It is generally caused by inactivating mutations in the PRKAR1A (protein kinase cAMP-dependent type I regulatory subunit alpha) gene. Acromegaly is an infrequent manifestation of CNC, reportedly diagnosed in 10% of patients.
METHODS
We here report the case of a patient who was concomitantly diagnosed with Carney complex, due to a new mutation in PRKAR1A ((NM_002734.3:c.80_83del, p.(Ile27Lysfs*101 in exon 2), and acromegaly. In parallel, we conducted an extensive review of published case reports of acromegaly in the setting of CNC.
RESULTS
The 43-year-old patient was diagnosed with an acromegaly due to a GH-secreting pituitary microadenoma resistant to somatostatin analogs. He underwent transsphenoidal surgery in our tertiary referral center, which found a pure GH-secreting adenoma. In the literature, we identified 57 cases (24 men, 33 women) of acromegaly in CNC patients. The median age at diagnosis was 28.8 ± 12 year and there were 6 cases of gigantism. Acromegaly revealed CNC in only 4 patients. 24 patients had a microadenoma and two carried pituitary hyperplasia and/or multiple adenomas, suggesting that CNC may result in a higher proportion of microadenoma as compared to non-CNC acromegaly.
CONCLUSIONS
Although it rarely reveals CNC, acromegaly is diagnosed at a younger age in this setting, with a higher proportion of microadenomas.
Topics: Acromegaly; Adolescent; Adult; Carney Complex; Cyclic AMP-Dependent Protein Kinase RIalpha Subunit; Female; Humans; Male; Mutation; Young Adult
PubMed: 31264077
DOI: 10.1007/s11102-019-00974-8 -
Journal of Neuro-ophthalmology : the... Dec 2023To determine whether acromegaly is associated with increased extraocular muscle (EOM) size at time of presentation.
BACKGROUND
To determine whether acromegaly is associated with increased extraocular muscle (EOM) size at time of presentation.
METHODS
Patients with a new diagnosis of acromegaly in a single tertiary care clinic with a CT scan that adequately delineated the EOMs were included. Control subjects were age- and sex-matched patients with a new diagnosis of nonfunctioning pituitary adenoma. Retrospective chart review was performed to extract baseline clinical and laboratory parameters including growth hormone, insulin-like growth factor 1, thyroid stimulating hormone, free T3, and free T4. A single neuroradiologist analyzed all CT scans and measured the maximum diameter and cross-sectional area of the superior rectus, inferior rectus, medial rectus, and lateral rectus in both eyes of all patients.
RESULTS
We evaluated 17 patients with acromegaly and 18 control subjects. Mean maximum diameter of the superior, inferior, medial, and lateral recti were 4.80 mm (SD = 0.81), 4.67 mm (SD = 0.54), 4.86 mm (SD = 0.77), and 4.53 mm (SD = 0.70) respectively, in the acromegaly group. In the control group, they were 3.62 mm (SD = 0.58),3.71 mm (SD = 0.46), 3.66 mm (SD = 0.32), and 3.21 mm (SD = 0.44), respectively. The maximum diameter and cross-sectional area of all 4 EOMs measured in the acromegaly group were significantly larger ( P < 0.001) compared with the control group.
CONCLUSIONS
Patients with acromegaly present with significantly enlarged EOMs compared with control subjects with nonfunctioning pituitary adenomas.
Topics: Humans; Oculomotor Muscles; Acromegaly; Retrospective Studies; Pituitary Neoplasms; Hypertrophy
PubMed: 37166976
DOI: 10.1097/WNO.0000000000001866 -
Endocrine, Metabolic & Immune Disorders... 2023Acromegaly is described as the oversecretion of growth hormone (GH) and, subsequently, insulin-like growth factor 1 (IGF-1), ascribed in most cases to a pituitary... (Review)
Review
Acromegaly is described as the oversecretion of growth hormone (GH) and, subsequently, insulin-like growth factor 1 (IGF-1), ascribed in most cases to a pituitary adenoma. This disease presents a progressive disfigurement, along with other systemic manifestations, which altogether diminishes the quality of life in the patients. Prolonged exposure to abnormally high levels of GH and IGF-1 levels results in cardiovascular, cerebrovascular, and pulmonary dysfunction which overall produces a fall in life expectancy. Timely diagnosis and further treatment decreased the mortality rate of the patients and showed an improvement in the quality of life. Surgical procedures, advanced radiation therapy tools, and the availability of pharmacological compounds that act on pituitary growth hormone-producing cells have enabled an improved approach to treating the disease. Pharmacological treatment is currently an important management option, and it may also be the first-line treatment in patients with acromegaly who do not benefit from or are ineligible for first-line surgical procedures. From its inception until 2021, we used a comprehensive search strategy on Medline/PubMed, Scopus, Embase, Web of Science, and the Cochrane Library electronic databases. All human research articles and review articles published in English were considered for the review. In this review, we describe the clinical implications and management of patients with acromegaly, consisting of scientific improvements underlying the developing understanding of pathogenesis and diagnosis, associated comorbidities and mortality rate with the disease, and major improvements in the treatment of the disease, along with novel strategies including quality of life and patient-reported outcomes.
Topics: Humans; Acromegaly; Insulin-Like Growth Factor I; Growth Hormone-Secreting Pituitary Adenoma; Quality of Life; Human Growth Hormone; Adenoma; Growth Hormone
PubMed: 36237164
DOI: 10.2174/1871530322666221012155533 -
Frontiers in Endocrinology 2023Growth Hormone-secreting adenomas exhibits variable biological behavior and heterogeneous natural history, ranging from small adenomas and mild disease, to invasive and... (Review)
Review
Growth Hormone-secreting adenomas exhibits variable biological behavior and heterogeneous natural history, ranging from small adenomas and mild disease, to invasive and aggressive neoplasms with more severe clinical picture. Patients not cured or controlled after neurosurgical and first-generation somatostatin receptor ligands (SRL) therapy could require multiple surgical, medical and/or radiation treatments to achieve disease control. To date, no clinical, laboratory, histopathological, or neuroradiological markers are able to define the aggressiveness or predict the disease prognosis in patients with acromegaly. Therefore, the management of these patients requires careful evaluation of laboratory assessments, diagnostic criteria, neuroradiology examinations, and neurosurgical approaches to choose an effective and patient-tailored medical therapy. A multidisciplinary approach is particularly useful in difficult/aggressive acromegaly to schedule multimodal treatment, which includes radiation therapy, chemotherapy with temozolomide and other, recent emerging treatments. Herein, we describe the role of the different members of the multidisciplinary team according to our personal experience; a flow-chart for the therapeutic approach of difficult/aggressive acromegaly patients is proposed.
Topics: Humans; Acromegaly; Growth Hormone; Pituitary Neoplasms; Human Growth Hormone; Adenoma
PubMed: 37206441
DOI: 10.3389/fendo.2023.1123267