K Kakleas, B Kandyla, A Tsitsika, C Tzavara, S Karanasios, K Karavanaki
{"title":"Sexuality of Greek adolescents with type 1 diabetes mellitus in comparison with their healthy peers.","authors":"K Kakleas, B Kandyla, A Tsitsika, C Tzavara, S Karanasios, K Karavanaki","doi":"10.1007/s42000-025-00677-9","DOIUrl":"https://doi.org/10.1007/s42000-025-00677-9","url":null,"abstract":"<p><strong>Purpose: </strong>Adolescents with type 1 diabetes mellitus (T1DM) may differ from their healthy peers with respect to sexual behavior. The aim of this study was to explore sexual behaviors of T1DM adolescents in Greece in comparison with healthy peers.</p><p><strong>Methods: </strong>The study population included 174 Greek adolescents, of whom 58 were T1DM adolescents (mean ± SD age 16.3 ± 2.0 years, disease duration 6.7 ± 3.5 years, and HbA1c:8.0 ± 1.3%), and 116 healthy controls (matching 1:2 for school, class, and gender). Anonymous self-reported questionnaires were used to evaluate sexual education and behavior.</p><p><strong>Results: </strong>T1DM adolescents had sexual experience at a significantly lower percentage than healthy peers (74.1% vs. 87.4%, p = 0.033). The average age of first sexual intercourse was similar for both groups (15.9 ± 1.8 years vs. 15.2 ± 1.5 years for T1DM and controls, respectively). In the control group, boys had sexual intercourse two times more frequently than girls and those in the T1DM group three times more frequently. Maternal education level (β = -1.47, p = 0.014) and HbA1c (β = -0.63, p = 0.49) were independently negatively associated with age at first sexual experience and first sexual intercourse (maternal education: β = -1.53, p = 0.003, HbA1c: β = -0.92, p < 0.001), respectively.</p><p><strong>Conclusion: </strong>A significant percentage of the T1DM adolescents had sexual experience or intercourse. However, fewer T1DM adolescents had sexual experience compared to their healthy peers, with girls having less frequent sexual intercourse than boys. Maternal education level and glycemic control were negatively associated with age at sexual debut. The above findings underline the need for early sexual education of adolescents with or without diabetes for the prevention of unfavorable outcomes.</p>","PeriodicalId":520640,"journal":{"name":"Hormones (Athens, Greece)","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144218564","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}
Yu Guan, Meng Fan, Xiaolin Ren, Siyuan Zhang, Chun Cao, Jingbing Lan, Qiongfang Cao, Tiecheng Zhang, Fan Xu, Tao Zhang
{"title":"Exploration of the relationship between Graves' eye disease and type 2 diabetes based on biomarkers.","authors":"Yu Guan, Meng Fan, Xiaolin Ren, Siyuan Zhang, Chun Cao, Jingbing Lan, Qiongfang Cao, Tiecheng Zhang, Fan Xu, Tao Zhang","doi":"10.1007/s42000-025-00674-y","DOIUrl":"10.1007/s42000-025-00674-y","url":null,"abstract":"<p><strong>Purpose: </strong>The development of Graves' ophthalmopathy (GO) is silent and can be accompanied by type 2 diabetes (T2D). However, the early diagnosis of these two conditions remains difficult.</p><p><strong>Methods: </strong>We evaluated a total of 123 patients with T2D and GO and 128 patients with GO treated in our hospital from 01 May 2016 to 31 May 2022. We determined the levels of several biomarkers and developed a regression model to evaluate the diagnostic efficacy of these biomarkers.</p><p><strong>Results: </strong>Univariate analysis showed that age and thyroid-stimulating hormone (TSH), free triiodothyronine (FT3), free thyroxine (FT4), glycated haemoglobin (HbA1c), and fasting glucose levels were significantly different in the GO-T2D group compared with the GO group. In the multivariate logistic regression analysis, FT3 and FT4 levels lost their statistical significance when the other factors remained unchanged. Older age and higher TSH, HbA1c, and glucose levels were associated with an increased likelihood of having GO-T2DM. The regression model for diagnosing GO and GO-T2D presented an R<sup>2</sup> of 0.70, a sensitivity of 87.80%, a specificity of 93.75%, and an area under the receiver operating characteristic (ROC) curve of 0.97.</p><p><strong>Conclusion: </strong>Age and TSH, HbA1c, and glucose levels are effective predictors of GO and GO-T2D. Therefore, routine examination of these biomarkers in patients with GO could help to diagnose T2D early, thus allowing early treatment and a better prognosis.</p>","PeriodicalId":520640,"journal":{"name":"Hormones (Athens, Greece)","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-05-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144192600","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}
Hayat M R M A Almansour, Athanasios E Athanasiou, Miltiadis A Makrygiannakis, Eleftherios G Kaklamanos
{"title":"Interrelationship between the menstrual cycle and the phenomena associated with orthodontic tooth movement in young female patients: a systematic review.","authors":"Hayat M R M A Almansour, Athanasios E Athanasiou, Miltiadis A Makrygiannakis, Eleftherios G Kaklamanos","doi":"10.1007/s42000-025-00678-8","DOIUrl":"https://doi.org/10.1007/s42000-025-00678-8","url":null,"abstract":"<p><strong>Purpose: </strong>Alterations in the levels of female sex hormones throughout the menstrual cycle can affect bone turnover, which, in turn, may influence the phenomena related to orthodontic tooth movement. The aim of the present study was to investigate in a systematic manner and summarize the existing evidence regarding the interrelationship between the menstrual cycle and the phenomena associated with orthodontic treatment in young females.</p><p><strong>Method: </strong>An unrestricted search was performed. Studies investigating the interdependence between the menstrual cycle in young females and the phenomena associated with tooth movement were reviewed. Study retrieval and selection were followed by extraction of relevant data and risk of bias assessment with the Cochrane ROB 2 tool for randomized controlled studies and the Newcastle-Ottawa Scale for the remaining studies.</p><p><strong>Results: </strong>Finally, seven studies, with variable risk of bias, met the inclusion criteria. Overall, force application during menstruation led to greater tooth movement. Orthodontic pain increased when forces were applied in the luteal phase and was exacerbated when patients presented with primary dysmenorrhea. Orthodontic treatment did not affect the duration of menstrual bleeding or cycle length in the long term.</p><p><strong>Conclusion: </strong>The menstrual cycle may exert an effect on the phenomena associated with orthodontic tooth movement: an orthodontist should therefore be able to identify possible repercussions.</p>","PeriodicalId":520640,"journal":{"name":"Hormones (Athens, Greece)","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-05-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144176324","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}
Efstratios Kardalas, George Kyriakopoulos, Vasiliki Antonopoulou, Aggeliki Kyriakou, Sofia Georgiadi, Marinella Tzanela, Georgia Ntali
{"title":"The clinical spectrum of adrenal ganglioneuromas extends from severe hypertension to an asymptomatic incidentaloma; two cases and mini review of literature.","authors":"Efstratios Kardalas, George Kyriakopoulos, Vasiliki Antonopoulou, Aggeliki Kyriakou, Sofia Georgiadi, Marinella Tzanela, Georgia Ntali","doi":"10.1007/s42000-025-00676-w","DOIUrl":"https://doi.org/10.1007/s42000-025-00676-w","url":null,"abstract":"<p><strong>Purpose: </strong>Herein, we present two interesting cases of adrenal ganglioneuromas (AGNs), namely, (a) a giant AGN which caused a severe episode of hypertension during a therapeutic dilation and curettage for early pregnancy loss, and (b) a case of a composite clinically silent adrenal ganglioneuroma-pheochromocytoma. Furthermore, we conducted a mini literature review on AGNs. CASE 1: A 31-year-old female patient presented with a history of early pregnancy loss at 9 ½ weeks. She underwent a therapeutic dilation and curettage during which she developed hypertension (~ 210/120 mm Hg). She reported no history of arterial hypertension, flushing, or tachycardia and her medical history was unremarkable. Further work-up, revealed a large heterogeneous tumor with microcalcifications in the left adrenal gland. Endocrine work-up was negative for hormonal excess. Magnetic resonance angiography (MRA) of the abdomen showed that the tumor was 'surrounding and strangling' the left renal vessels and the inferior vena cava. The patient successfully underwent an open left adrenalectomy and nephrectomy. Histology revealed an adrenal mature ganglioneuroma with Schwannian stroma being dominant. Her postoperative course was uneventful and she remains recurrence-free 6 years after surgery. CASE 2: A 37-year-old male patient was admitted to the hospital because of abdominal pain and hematuria. Computer tomography identified a 4-cm right adrenal lesion. Due to elevated urinary metanephrines, he underwent laparoscopic right adrenalectomy after appropriate alpha-blockade preparation preoperatively. Histology was consistent with pheochromocytoma with a component of ganglioneuroma, thus, a composite pheochromocytoma. His post-operative course was excellent and he remains asymptomatic and recurrence-free 60 months post-operatively.</p><p><strong>Conclusion: </strong>These are two challenging cases of (a) a giant non-secreting AGN presenting with severe hypertension due to renal vessel compression and (b) a clinically silent composite pheochromocytoma-ganglioneuroma presenting with abdominal pain and hematuria. The size in the first case and the concurrence with a pheochromocytoma but a clinically silent phenotype in the second case highlight the fact that AGNs can be diagnostic chameleons.</p>","PeriodicalId":520640,"journal":{"name":"Hormones (Athens, Greece)","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144164655","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}
Z Karagiannidou, G Bontzos, A Plaka, G Makrygiannis
{"title":"Hypertensive retinopathy as the first manifestation of extra-adrenal paraganglioma.","authors":"Z Karagiannidou, G Bontzos, A Plaka, G Makrygiannis","doi":"10.1007/s42000-025-00675-x","DOIUrl":"https://doi.org/10.1007/s42000-025-00675-x","url":null,"abstract":"<p><p>Paragangliomas are rare neuroendocrine tumors originating from paraganglionic cells in the autonomic nervous system and which are capable of secreting catecholamines and causing hypertensive crises. Although typically benign, they can exhibit aggressive features and present with varied clinical manifestations depending on location and catecholamine activity. Herein, we report an unusual case of a 28-year-old male who initially presented with bilateral grade IV hypertensive retinopathy, an uncommon initial manifestation of paraganglioma. Fundus examination revealed severe hypertensive retinopathy with exudative retinal detachment. Laboratory evaluation demonstrated markedly elevated plasma and urinary catecholamines and metanephrines. Imaging, including computed tomography (CT) and iodine-123 metaiodobenzylguanidine (MIBG) scintigraphy, confirmed a highly vascularized mass near the left adrenal gland, consistent with extra-adrenal paraganglioma. The patient's hypertension was medically stabilized prior to successful surgical tumor resection. Postoperatively, blood pressure normalized without medication, and significant improvement was observed in retinal findings, including resolution of disc edema and macular exudates. This case highlights the importance of considering paraganglioma in the differential diagnosis of malignant hypertension with ocular involvement, even when typical systemic symptoms of catecholamine excess are absent. Prompt recognition and intervention can lead to favorable visual and systemic outcomes.</p>","PeriodicalId":520640,"journal":{"name":"Hormones (Athens, Greece)","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144164654","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}
Maria Evangelia Koloutsou, Maria P Yavropoulou, Konstantinos Makrilakis
{"title":"Spontaneous restoration of premature ovarian insufficiency and conception in a patient with glycogen storage disease type 1b managed with empagliflozin.","authors":"Maria Evangelia Koloutsou, Maria P Yavropoulou, Konstantinos Makrilakis","doi":"10.1007/s42000-025-00672-0","DOIUrl":"https://doi.org/10.1007/s42000-025-00672-0","url":null,"abstract":"<p><p>Glycogen storage disease type 1b (GSD-1b) is a rare genetic disorder characterized by deficiencies in glucose metabolism, leading to severe hypoglycemia, neutropenia, inflammatory bowel disease, and other metabolic abnormalities. We report the case of a 32-year-old woman with genetically confirmed GSD-1b who experienced premature ovarian failure and spontaneous restoration of menstrual cycle with subsequent conception and pregnancy after 3 years of treatment with the sodium-glucose-co-transporter-2-inhibitor (SGLT2i) empagliflozin. Recent studies have highlighted the efficacy of empagliflozin in managing neutropenia and reducing infections in GSD-1b, but it has also been linked to pleiotropic effects in the ovaries. Although our case cannot establish causal relationship, empagliflozin, beyond managing neutropenia, may have a positive effect on ovarian function and fertility in women with GSD-1b. Further research is required to investigate the molecular mechanisms by which empagliflozin may affect gonadal function and to evaluate its safety during pregnancy.</p>","PeriodicalId":520640,"journal":{"name":"Hormones (Athens, Greece)","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-05-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144121694","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}
{"title":"Progression from prediabetes to type 2 diabetes mellitus induced by overnutrition.","authors":"Yuli Zhang, Tuming Shen, Songtao Wang","doi":"10.1007/s42000-022-00399-2","DOIUrl":"https://doi.org/10.1007/s42000-022-00399-2","url":null,"abstract":"<p><p>Prediabetes has developed into a global pandemic, its prevalence increasing year by year. Although lifestyle changes are advocated as the basis for prediabetes treatment, some patients fail to choose or adhere to appropriate interventions. The basis for selecting an appropriate intervention is determining the stage and cause of the disease. In this review, we aimed to examine the various types and disease processes of prediabetes caused by overnutrition, the present review supporting the hypothesis that overnutrition-induced hyperinsulinemia precedes insulin resistance (IR) and independently causes β-cell dysfunction. Tissue insulin resistance is the main feature of prediabetes with the crosstalk between tissues promoting the formation of systemic insulin resistance. Finally, both β-cell dysfunction induced by hyperinsulinemia or IR and reduced β-cell mass can lead to abnormal insulin secretion and contribute to development of type 2 diabetes mellitus (T2DM). Hence, overnutrition can cause multiple prediabetes phenotypes resulting in development of T2DM through different trajectories. Future diagnosis and treatment should therefore more carefully consider the disease phenotype and stage of development in patients with prediabetes to reduce the incidence of T2DM.</p>","PeriodicalId":520640,"journal":{"name":"Hormones (Athens, Greece)","volume":" ","pages":"591-597"},"PeriodicalIF":3.2,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33487883","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}
Yu Gao, Yichun Wang, Lei Xu, Xiaoque Xie, Liyang Zhu, Fan Wang
{"title":"CircRTN1 acts as a miR-431-5p sponge to promote thyroid cancer progression by upregulating TGFA.","authors":"Yu Gao, Yichun Wang, Lei Xu, Xiaoque Xie, Liyang Zhu, Fan Wang","doi":"10.1007/s42000-022-00378-7","DOIUrl":"https://doi.org/10.1007/s42000-022-00378-7","url":null,"abstract":"<p><strong>Purpose: </strong>This study aimed to explore the role and underlying mechanism of circular RNA (circRNA) reticulon 1 (circRTN1) in thyroid cancer (TC).</p><p><strong>Methods: </strong>The expression levels of circRTN1, microRNA-431-5p (miR-431-5p), and transforming growth factor-alpha (TGFA) mRNA were measured by quantitative real-time PCR (qRT-PCR). Cell proliferation was evaluated using colony formation and 5-ethynyl-2'-deoxyuridine (EdU) assays. Cell apoptosis was analyzed using flow cytometry. Cell migration and invasion were measured using the transwell assay. The protein levels of ki-67, Bax, matrix metalloproteinase 2 (MMP-2), and TGFA were detected using Western blot assay. The interaction between miR-431-5p and circRTN1 or TGFA was verified by dual-luciferase reporter assay and RNA immunoprecipitation (RIP) assay. The effect of circRTN1on TC in vivo was explored via xenograft tumor assay.</p><p><strong>Results: </strong>The expression of circRTN1 was increased in TC tissues and cells. Knockdown of circRTN1 suppressed TC cell proliferation, migration, and invasion, and increased cell apoptosis. MiR-431-5p was a target of circRTN1, and miR-431-5p downregulation reversed the role of circRTN1 knockdown in TC cells. TGFA was identified as a direct target of miR-431-5p, and miR-431-5p exerted the anti-tumor role in TC cells by downregulating TGFA. Moreover, circRTN1 sponged miR-431-5p to regulate TGFA expression. Furthermore, circRTN1 knockdown inhibited tumor growth in vivo.</p><p><strong>Conclusion: </strong>CircRTN1 acted as a cancer-promoting circRNA in TC by regulating the miR-431-5p/TGFA axis, providing a potential therapeutic strategy for TC treatment.</p>","PeriodicalId":520640,"journal":{"name":"Hormones (Athens, Greece)","volume":" ","pages":"611-623"},"PeriodicalIF":3.2,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40574152","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}
Qiliang Pang, Aoyun Jia, Mohammad Khaldoun Al Masri, Hamed Kord Varkaneh, Ahmed Abu-Zaid, Xiang Gao
{"title":"The effect of androstenedione supplementation on testosterone, estradiol, body composition, and lipid profile: a systematic review and meta-analysis of randomized controlled trials.","authors":"Qiliang Pang, Aoyun Jia, Mohammad Khaldoun Al Masri, Hamed Kord Varkaneh, Ahmed Abu-Zaid, Xiang Gao","doi":"10.1007/s42000-022-00385-8","DOIUrl":"10.1007/s42000-022-00385-8","url":null,"abstract":"<p><strong>Objective: </strong>To date, no meta-analysis has been carried out to collect evidence from randomized placebo-controlled trials (RCTs) for the purpose of comprehensively summarizing the effect of androstenedione supplementation. Therefore, the aim of this research was to perform a systematic review and meta-analysis of all RCTs that explored the effect of androstenedione supplementation on individual hormonal, lipid, and anthropometric indices.</p><p><strong>Methods: </strong>We searched five databases (Web of Science, SCOPUS, Embase, PubMed/MEDLINE, and Google Scholar) using a combination of medical subject headings (MeSH) and non-MeSH terms. Using the random-effects model, we summarized the outcomes as weighted mean difference (WMD) with 95% confidence interval (CI).</p><p><strong>Results: </strong>Eight eligible articles were included in the meta-analysis. The pooled effect sizes suggested a significant effect of androstenedione supplementation on serum estradiol concentrations (WMD: 20.82 ng/ml, 95% CI: 7.25 to 34.38, p = 0.003), triglycerides (TG, WMD: -0.19 mg/dl, 95% CI: - 0.96, 0.57, p = 0.000), and high-density lipoprotein (HDL)-cholesterol (WMD: - 0.13 mg/dl, 95% CI: - 0.23 to - 0.03, p = 0.009); however, it had no effect on testosterone (WMD: 0.098 ng/ml, 95% CI: - 0.499 to 0.696, p = 0.748), body weight (WMD: 0.579 kg, 95% CI: - 4.02 to 5.17, p = 0.805), body mass index (BMI, WMD: - 0.73 kg/m<sup>2</sup>, 95% CI: - 2.98, 1.50, p = 0.519), low-density lipoprotein (LDL)-cholesterol (WMD: - 0.074 mg/dl, 95% CI: - 0.37 to 0.22, p = 0.622), and total cholesterol (TC, WMD: - 0.15 mg/dl, 95% CI: - 0.49, 0.17, p = 0.198).</p><p><strong>Conclusion: </strong>These findings indicate that androstenedione supplementation can lower TG and HDL-cholesterol and increase estradiol concentrations.</p>","PeriodicalId":520640,"journal":{"name":"Hormones (Athens, Greece)","volume":" ","pages":"545-554"},"PeriodicalIF":0.0,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40597879","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}
David Araújo-Vilar, Antía Fernández-Pombo, Silvia Cobelo-Gómez, Ana I Castro, Sofía Sánchez-Iglesias
{"title":"Lipodystrophy-associated progeroid syndromes.","authors":"David Araújo-Vilar, Antía Fernández-Pombo, Silvia Cobelo-Gómez, Ana I Castro, Sofía Sánchez-Iglesias","doi":"10.1007/s42000-022-00386-7","DOIUrl":"https://doi.org/10.1007/s42000-022-00386-7","url":null,"abstract":"<p><p>With the exception of HIV-associated lipodystrophy, lipodystrophy syndromes are rare conditions characterized by a lack of adipose tissue, which is not generally recovered. As a consequence, an ectopic deposition of lipids frequently occurs, which usually leads to insulin resistance, atherogenic dyslipidemia, and hepatic steatosis. These disorders include certain accelerated aging syndromes or progeroid syndromes. Even though each of them has unique clinical features, most show common clinical characteristics that affect growth, skin and appendages, adipose tissue, muscle, and bone and, in some of them, life expectancy is reduced. Although the molecular bases of these Mendelian disorders are very diverse and not well known, genomic instability is frequent as a consequence of impairment of nuclear organization, chromatin structure, and DNA repair, as well as epigenetic dysregulation and mitochondrial dysfunction. In this review, the main clinical features of the lipodystrophy-associated progeroid syndromes will be described along with their causes and pathogenic mechanisms, and an attempt will be made to identify which of López-Otín's hallmarks of aging are present.</p>","PeriodicalId":520640,"journal":{"name":"Hormones (Athens, Greece)","volume":" ","pages":"555-571"},"PeriodicalIF":3.2,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40505626","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}