Minerva endocrinologyPub Date : 2024-12-01Epub Date: 2022-02-01DOI: 10.23736/S2724-6507.22.03661-2
Meng-Jun Wang, Jun-Liang Liu, Ning Wang, Xuemei Han, Hai-Xiong Zhang
{"title":"The effectiveness and safety of linagliptin within elderly type 2 diabetes mellitus: a meta-analysis and systematic review.","authors":"Meng-Jun Wang, Jun-Liang Liu, Ning Wang, Xuemei Han, Hai-Xiong Zhang","doi":"10.23736/S2724-6507.22.03661-2","DOIUrl":"10.23736/S2724-6507.22.03661-2","url":null,"abstract":"<p><strong>Introduction: </strong>Linagliptin is a convenient and effective drug approved for glycemic management in type 2 diabetes mellitus (T2DM). However, the effectiveness and safety evidence of linagliptin remains unclear with the increasing prevalence of T2DM in elderly patients. The aim of this study was to evaluate the effectiveness and safety of linagliptin within T2DM cases who aged ≥60 years.</p><p><strong>Evidence acquisition: </strong>The researchers pooled 4903 cases aged ≥60 years with T2DM from 5 published randomized clinical trials obtained from multiple databases. The safety was evaluated by the incidence and severity of adverse events which mainly focused on hypoglycemia. The major effectiveness end point was the change of glycated hemoglobin (HbA1c). Then the researchers made the qualitative and quantitative assessments of the investigation.</p><p><strong>Evidence synthesis: </strong>The level of HbA1c and fasting plasma glucose was significantly reduced by linagliptin (WMD=-0.63%, 95% CI: -0.81, -0.44; P<0.00001; Z=6.70) and (WMD=-15.58 mg/dL, 95% CI: -22.34, -8.82; P<0.00001; Z=4.52) relative to that in the placebo cohort. The incidences of overall (OR=1.01, 95% CI: 0.82, 1.25; P=0.91) and severe negative events (OR=0.88, 95% CI: 0.61, 1.25; P=0.46) were not significant increased in linagliptin cohorts compared to the placebo cohorts. There is insignificant difference in hypoglycemia between linagliptin and placebo cohorts for the 24 weeks' study (OR=1.12, 95% CI: 0.85, 1.48; P=0.41). Severe hypoglycemia had slightly descended incidence, whereas insignificant difference was shown in the linagliptin cohorts in contrast to placebo cohorts (OR=0.95, 95% CI: 0.68, 1.32, P=0.76).</p><p><strong>Conclusions: </strong>Linagliptin is an effective drug with excellent safety for elderly T2DM.</p>","PeriodicalId":18690,"journal":{"name":"Minerva endocrinology","volume":" ","pages":"427-435"},"PeriodicalIF":2.5,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39754374","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Minerva endocrinologyPub Date : 2024-12-01Epub Date: 2024-09-30DOI: 10.23736/S2724-6507.24.04173-3
Alessandro Monaco, Ludovica Verde, Marcello Filograna Pignatelli, Annamaria Docimo, Sonia Ferrandes, Luigi Barrea, Francesco Calisti, Giovanni Cozzolino, Giovanna Muscogiuri, Giovanni Docimo
{"title":"Adherence to Mediterranean diet and prevalence of differentiated thyroid cancer: a single-center Unit of Thyroid Surgery experience in a Southern-Italy cohort.","authors":"Alessandro Monaco, Ludovica Verde, Marcello Filograna Pignatelli, Annamaria Docimo, Sonia Ferrandes, Luigi Barrea, Francesco Calisti, Giovanni Cozzolino, Giovanna Muscogiuri, Giovanni Docimo","doi":"10.23736/S2724-6507.24.04173-3","DOIUrl":"10.23736/S2724-6507.24.04173-3","url":null,"abstract":"<p><strong>Background: </strong>The Mediterranean diet (MD) is recognized as a cultural heritage by UNESCO, thus, is a nutritional model widely spread in all Mediterranean countries. As already demonstrated by several studies, high adherence to MD is a protective factor against many chronic diseases. Conversely, poor adherence to the diet is correlated with an increased prevalence of these pathologies. The aim of the current study was to investigate the relationship between the adherence to MD and the prevalence of benign and malignant thyroid disease.</p><p><strong>Methods: </strong>We analyzed the health status of 60 patients, referred to total thyroidectomy and histological examination, due to nodular thyroid disease. Eating habits were evaluated according to the PREDIMED questionnaire, and patients' results were evaluated according to histological findings of benign or malignant disease.</p><p><strong>Results: </strong>PREDIMED Score was lower in patients with malignant thyroid disease (MTD) than those with benign thyroid disease (BTD) (5.27±0.87 vs. 7.00±1.23, respectively; P value <0.001). A significant correlation was found between poor adherence to MD and diagnosis of MTD (r=0.454; P<0.001). Excessive consumption of butter and sugary drinks, along with low consumption of pasta, white meat, and rice were found to be predictive factors of MTD.</p><p><strong>Conclusions: </strong>In our cohort, a PREDIMED Score ≤7 resulted significantly related to MTD diagnosis, while a good adherence to MD resulted associated with BTD. Moreover, high consumption of sweetened beverages seemed to predict MTD histologic diagnosis, while, conversely, low consumption resulted predictor of BTD. Nevertheless, more studies are needed to evaluate the effective impact of MD on MTD incidence on larger cohorts.</p>","PeriodicalId":18690,"journal":{"name":"Minerva endocrinology","volume":" ","pages":"356-365"},"PeriodicalIF":2.5,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142350172","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Minerva endocrinologyPub Date : 2024-12-01Epub Date: 2021-04-21DOI: 10.23736/S2724-6507.21.03408-4
Joana Nicolau, Keyla Dotres, Irene Rodríguez, Pilar Sanchís, María I Tamayo, Ana G Soler, Regina Fortuny, Lluís Masmiquel
{"title":"The effects of chronic back pain on self-management, clinical and psychological outcomes among patients with type 2 diabetes.","authors":"Joana Nicolau, Keyla Dotres, Irene Rodríguez, Pilar Sanchís, María I Tamayo, Ana G Soler, Regina Fortuny, Lluís Masmiquel","doi":"10.23736/S2724-6507.21.03408-4","DOIUrl":"10.23736/S2724-6507.21.03408-4","url":null,"abstract":"<p><strong>Background: </strong>Chronic back pain (CBP) in patients with type 2 diabetes (T2DM) is twice as high among age-and-gender-matched controls. The presence of both conditions impacts negatively on both quality of life and physical function, which might negatively affect mood.</p><p><strong>Methods: </strong>We aimed to determine the prevalence of CBP among patients with T2DM by using the Lattinen Index (LI) and to assess whether the presence of CBP had any influence on clinical or psychological outcomes.</p><p><strong>Results: </strong>13.5% out of 299 patients had significant CBP. The percentage of patients with less than 150 minutes per week of exercise was higher in the group of patients with significant CBP (70% vs. 51.4%; P=0.04). The proportion of patients who met criteria for food addiction was greater among subjects with CBP (47.5% vs. 26.6%; P=0.009). The percentage of patients with criteria for depression was higher among the CBP group (82.5% vs. 29.7%; P<0.0001), as well as the prescription of antidepressants (45% vs. 17.4%; P<0.0001). However, no significant differences were seen regarding glycemic control, or the frequency of complications related to T2DM.</p><p><strong>Conclusions: </strong>CBP is prevalent among subjects with T2DM, and it constitutes an important limiting factor of both self-care behaviors and psychological well-being.</p>","PeriodicalId":18690,"journal":{"name":"Minerva endocrinology","volume":" ","pages":"389-397"},"PeriodicalIF":2.5,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38893559","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Minerva endocrinologyPub Date : 2024-12-01Epub Date: 2024-11-20DOI: 10.23736/S2724-6507.24.04308-2
Elena Massardi, Germano Gaudenzi, Monica Oldani, Ilona M Rybinska, Silvia Carra
{"title":"Zebrafish model in the relentless race to tyrosine kinase inhibitors for neuroendocrine neoplasms.","authors":"Elena Massardi, Germano Gaudenzi, Monica Oldani, Ilona M Rybinska, Silvia Carra","doi":"10.23736/S2724-6507.24.04308-2","DOIUrl":"10.23736/S2724-6507.24.04308-2","url":null,"abstract":"","PeriodicalId":18690,"journal":{"name":"Minerva endocrinology","volume":" ","pages":"353-355"},"PeriodicalIF":2.5,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142676316","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Minerva endocrinologyPub Date : 2024-12-01Epub Date: 2023-09-15DOI: 10.23736/S2724-6507.23.03974-X
Xiuwen Wang, Wenzhi Wang, Ting Sun, Xijie Yu
{"title":"Osteogenesis imperfecta type V: a report of a Chinese family with a mutation in IFITM5 gene.","authors":"Xiuwen Wang, Wenzhi Wang, Ting Sun, Xijie Yu","doi":"10.23736/S2724-6507.23.03974-X","DOIUrl":"10.23736/S2724-6507.23.03974-X","url":null,"abstract":"","PeriodicalId":18690,"journal":{"name":"Minerva endocrinology","volume":" ","pages":"479-481"},"PeriodicalIF":1.9,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10610510","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Minerva endocrinologyPub Date : 2024-12-01Epub Date: 2021-04-21DOI: 10.23736/S2724-6507.21.03418-7
Sándor Magony, Szabolcs Nyiraty, Bettina Tóth, Fruzsina Pesei, Andrea Orosz, György Ábrahám, Peter Kempler, Csaba Lengyel, Tamás Várkonyi
{"title":"Peripheral sensory nerve hyperesthesia in women with polycystic ovary syndrome.","authors":"Sándor Magony, Szabolcs Nyiraty, Bettina Tóth, Fruzsina Pesei, Andrea Orosz, György Ábrahám, Peter Kempler, Csaba Lengyel, Tamás Várkonyi","doi":"10.23736/S2724-6507.21.03418-7","DOIUrl":"10.23736/S2724-6507.21.03418-7","url":null,"abstract":"<p><strong>Background: </strong>Dysfunction of the nervous system is well-known in diabetes and among patients with prediabetes, obesity, and hypertension. However, there is only a limited amount of data available on the changes in neuronal function in polycystic ovary syndrome (PCOs), even though this condition is also accompanied by metabolic and vascular abnormalities. The aim of our study was to assess the cardiovascular autonomic and peripheral sensory function in patients with PCOs.</p><p><strong>Methods: </strong>The study involved 27 women with PCOs, and 24 healthy women as control subjects. Autonomic neuropathy (AN) was assessed using the four standard cardiovascular reflex tests. Peripheral sensory function was determined using the Neurometer (Neurotron Incorporated, Baltimore, MD, USA). Electric stimulation was applied transcutaneously and the current perception threshold (CPT) values were determined on the median and peroneal nerves.</p><p><strong>Results: </strong>No significant differences were found between the PCOs patients and the control group regarding the cardiovascular autonomic reflex tests and the AN scores. The CPT values of PCOs patients in the median and peroneal nerves were lower at all frequencies in comparison to controls.</p><p><strong>Conclusions: </strong>The cardiovascular autonomic nerve function was normal in the patients with PCOs. The current perception thresholds were consequently lower in the PCOs patients both in the upper and lower extremities at all frequencies, which serves as an early sign of neuropathy. As a novel observation, our results suggest that early neuronal damage manifests in the form of sensory hyperesthesia in patients with PCOs.</p>","PeriodicalId":18690,"journal":{"name":"Minerva endocrinology","volume":" ","pages":"381-388"},"PeriodicalIF":2.5,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38893560","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Minerva endocrinologyPub Date : 2024-09-01Epub Date: 2024-01-19DOI: 10.23736/S2724-6507.23.04058-7
Dario DE Alcubierre, Anna L Carretti, François Ducray, Emmanuel Jouanneau, Gérald Raverot, Mirela D Ilie
{"title":"Aggressive pituitary tumors and carcinomas: medical treatment beyond temozolomide.","authors":"Dario DE Alcubierre, Anna L Carretti, François Ducray, Emmanuel Jouanneau, Gérald Raverot, Mirela D Ilie","doi":"10.23736/S2724-6507.23.04058-7","DOIUrl":"10.23736/S2724-6507.23.04058-7","url":null,"abstract":"<p><p>Aggressive pituitary tumors are a subset of pituitary neoplasms, characterized by unusually fast growth rate, invasiveness and overall resistance to optimized standard treatment. When metastases are present, the term pituitary carcinoma is employed. After failure of standard treatments, current guidelines recommend first-line temozolomide monotherapy. However, a significant number of patients do not respond to temozolomide, or experience disease progression following its discontinuation; in these latter cases, re-challenge with temozolomide is generally advised, although the reported outcomes have been less satisfactory. Although no alternative therapies have been formally recommended after temozolomide failure, growing evidence regarding potential second- or third-line therapeutic strategies has emerged. In the present work, we reviewed the available evidence published up to April 2023 involving the most relevant therapies employed so far, namely immune checkpoint inhibitors, bevacizumab, peptide radionuclide receptor therapy, tyrosine kinase inhibitors and mTOR inhibitors. For each treatment, we report efficacy and safety outcomes, along with data regarding potential predictors of response. Overall, immune checkpoint inhibitors and bevacizumab are showing the most promise as therapeutic options after temozolomide failure. The former showed better responses in pituitary carcinomas. Peptide radionuclide receptor therapy has also showed some efficacy in these tumors, while tyrosine kinase inhibitors and mTOR inhibitors have exhibited so far limited or no efficacy. Further studies, as well as an individualized, patient-tailored approach, are clearly needed. In addition, we report an unpublished case of a silent corticotroph pituitary carcinoma that progressed under dual immunotherapy, and then showed stable disease under a combination of lomustine and bevacizumab.</p>","PeriodicalId":18690,"journal":{"name":"Minerva endocrinology","volume":" ","pages":"321-334"},"PeriodicalIF":2.5,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139491621","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Minerva endocrinologyPub Date : 2024-09-01Epub Date: 2021-09-16DOI: 10.23736/S2724-6507.21.03386-8
Fatma N Korkmaz, Asena Gökçay Canpolat, Mustafa Şahin, Demet Çorapçioğlu
{"title":"Determination of the frequency of hyperprolactinemia-related etiologies and the etiology-specific mean prolactin levels.","authors":"Fatma N Korkmaz, Asena Gökçay Canpolat, Mustafa Şahin, Demet Çorapçioğlu","doi":"10.23736/S2724-6507.21.03386-8","DOIUrl":"10.23736/S2724-6507.21.03386-8","url":null,"abstract":"<p><strong>Background: </strong>Prolactin (PRL) is a peptide hormone secreted by the anterior pituitary that provides lactation during the postpartum period. The causes of hyperprolactinemia are pituitary tumors, medications, primary hypothyroidism, polycystic ovary syndrome (PCOS), renal failure, idiopathic, and other physiological causes such as pregnancy and lactation. In this study, we aimed to investigate the prevalence of hyperprolactinemia etiologies and the mean/median prolactin levels in different etiologies.</p><p><strong>Methods: </strong>The patients admitted to our outpatient clinic between January 2009-December 2019 were retrospectively screened from our hospital database with ICD-10 codes. Four hundred patients were included in the study; 69.5% of the patients were women. Their mean age was 43.67±13.42 years, the duration of illness was 7.8±5.6 years. The most frequent causes of hyperprolactinemia were found as follows: 52.5% (N.=210) prolactinoma, 7% (N.=28) gonadotropinoma, 6.5% (N.=26) drug-related, 6.5% (N.=25) PCOS, 5.8% (N.=23) idiopathic, 5% (N.=20) acromegaly, 4.8% (N.=19) nonfunctioning adenoma 2.3% (N.=9) craniopharyngioma. Patients with gonodotropinoma were significantly older, and the patients with PCOS were significantly younger than the patients with hyperprolactinemia due to the other etiologies. Patients with prolactinoma had significantly higher prolactin levels and longer duration of the illness when compared to other etiologies of hyperprolactinemia (168.00* ng/mL [14-23,500] [168]); 8* years (0-39) (5.00) years respectively, *median values, (min-max levels) and (interquartile range), respectively.</p><p><strong>Results: </strong>There was no significant difference between prolactin levels of other etiologic groups except prolactinoma. Surprisingly, we found PCOS patients with prolactin levels greater than 100 ng/mL and acromegaly or drug-induced hyperprolactinemia with prolactin levels greater than 200 ng/mL. In our study, unlike the literature, macroprolactinemia can be seen alone or together with other pathologies. Except for macroprolactinoma, it is not possible to diagnose according to prolactin level. Similar to the literature, prolactinoma was the most common cause of hyperprolactinemia. The causes of hyperprolactinemia, in order of decreasing frequency, were determined to be gonodotropinoma, drug-related, PCOS, idiopathic, and acromegaly. The range of prolactin detected in PCOS is given as new information. It was found that the pediatric group and the adult group had a similar etiology and PRL level.</p><p><strong>Conclusions: </strong>A large spectrum of physiologic/pathologic conditions increases the prolactin levels, and prolactin levels may vary from person to person. So, the serum prolactin level alone does not guide a clinical diagnosis or make a differential diagnosis.</p>","PeriodicalId":18690,"journal":{"name":"Minerva endocrinology","volume":" ","pages":"243-252"},"PeriodicalIF":2.5,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39421615","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Minerva endocrinologyPub Date : 2024-09-01Epub Date: 2022-02-15DOI: 10.23736/S2724-6507.22.03565-5
And Demir, Matti Hero, Henrik Alfthan, Amro Passioni, Juha S Tapanainen, Ulf-Håkan Stenman
{"title":"Intact luteinizing hormone, LHβ, and LHβ core fragment in urine of menstruating women.","authors":"And Demir, Matti Hero, Henrik Alfthan, Amro Passioni, Juha S Tapanainen, Ulf-Håkan Stenman","doi":"10.23736/S2724-6507.22.03565-5","DOIUrl":"10.23736/S2724-6507.22.03565-5","url":null,"abstract":"<p><strong>Background: </strong>We examined different molecular forms of luteinizing hormone (LH) in urine samples taken during periovulatory days with the aim of revealing different forms of LH immunoreactivity (LH-ir) in normally menstruating women.</p><p><strong>Methods: </strong>Serum and first-morning-voided urine serum samples were obtained from six healthy, 22 to 38 years old, regularly menstruating women during their periovulatory days based on their previous menstrual cycles. The day of the LH surge was determined on the basis of serum LH concentrations and confirmed by an at least two-fold increase in urinary concentrations of intact LH on consecutive days. Different molecular forms of LH-ir were identified by gel filtration of first-morning-voided urine samples obtained from regularly menstruating women on periovulatory days.</p><p><strong>Results: </strong>Different forms of LH immunoreactivity (LH-ir) were distinguished as intact LH, its free beta-subunit (LHβ), and the core fragment of LHβ (LHβcf) according to their molecular sizes. The latter two are also called non-intact LH. Intact LH was the dominating form on the day before and on the day of LH surge while LHβcf was the major form of LH immunoreactivity after the LH surge for the following 5-7 days. LHβ was detected on the day of the LH surge as well as on the following day.</p><p><strong>Conclusions: </strong>These results indicate that LH is degraded in the kidneys and excreted as LHβ, and mainly as LHβcf for 7 days following the LH peak.</p>","PeriodicalId":18690,"journal":{"name":"Minerva endocrinology","volume":" ","pages":"262-268"},"PeriodicalIF":2.5,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39925709","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Minerva endocrinologyPub Date : 2024-09-01Epub Date: 2024-07-31DOI: 10.23736/S2724-6507.24.04219-2
Rodopi Emfietzoglou, Giovanna Muscogiuri, Dimitrios Tsilingiris, Dimitrios Kounatidis, Theodora Stratigou, Natalia Vallianou, Irene Karampela, Efthimia K Basdra, Maria Dalamaga
{"title":"Macroglossia in endocrine and metabolic disorders: current evidence, perspectives and challenges.","authors":"Rodopi Emfietzoglou, Giovanna Muscogiuri, Dimitrios Tsilingiris, Dimitrios Kounatidis, Theodora Stratigou, Natalia Vallianou, Irene Karampela, Efthimia K Basdra, Maria Dalamaga","doi":"10.23736/S2724-6507.24.04219-2","DOIUrl":"10.23736/S2724-6507.24.04219-2","url":null,"abstract":"<p><p>Macroglossia is an uncommon condition characterized by chronic, painless and abnormal enlargement of the tongue. A multitude of medical conditions can cause macroglossia. Major endocrine and metabolic disorders associated with macroglossia include genetic, congenital and acquired conditions, such as mucopolysaccharidoses; acquired and congenital hypothyroidism and myxedema; transient neonatal diabetes mellitus; acromegaly and amyloidosis. Macroglossia is often associated (~57-60%) with all types of mucopolysaccharidoses, particularly type I (Hurler syndrome) and type II (Hunter syndrome), being a prominent feature of the disorder. It may also occur in patients with acquired and congenital hypothyroidism and myxedema, being a common sign of congenital hypothyroidism with an approximate prevalence of 12-25% at the time of diagnosis. Macroglossia is a predominant oral finding in subjects with transient neonatal diabetes mellitus (~44%), acromegaly (54-69%) and amyloidosis (10-25%), particularly AL amyloidosis (20-40%) whereas is considered a hallmark of the disease. Secondary to macroglossia various disturbances may occur, such as difficulty in speech or eating, orthodontic anomalies or even more serious conditions including upper airway obstruction or obstructive sleep apnea. Until now, no comprehensive review has been conducted focusing on macroglossia in endocrine and metabolic disorders. The objective of this review is to summarize literature on the etiology and epidemiology of macroglossia in major endocrine and metabolic disorders. It highlights key aspects such as pathophysiology, clinical presentation, diagnostic evaluation, management and prognosis of macroglossia in the context of endocrine and metabolic disorders.</p>","PeriodicalId":18690,"journal":{"name":"Minerva endocrinology","volume":" ","pages":"335-350"},"PeriodicalIF":2.5,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141855969","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}