Journal of Endocrinological Investigation最新文献

{"title":"Dose-response association between OGTT and adverse perinatal outcomes after IVF treatment: A cohort study based on a twin population.","authors":"Wei-Zhen Tang, Kang-Jin Huang, Xia Li, Ya Chen, Lan Wang, Ying-Xiong Wang, Yue Tang, Bo-Yuan Deng, Tai-Hang Liu, Xia Lan","doi":"10.1007/s40618-025-02585-6","DOIUrl":"https://doi.org/10.1007/s40618-025-02585-6","url":null,"abstract":"<p><strong>Background: </strong>Investigate the association between Oral Glucose Tolerance Test (OGTT) after in vitro fertilization (IVF) treatment and adverse maternal and neonatal outcomes in twin pregnancies.</p><p><strong>Methods: </strong>This retrospective study encompassed 2,541 twin pregnancies conceived through IVF treatment. Adverse maternal and neonatal outcomes were compared across different subgroups based on individual and combined OGTT classifications. A Spearman correlation regression model examined associations between OGTT levels at different time points and parameters such as gestational age, birth weight, and length. Subsequently, a Logistic regression model with restricted cubic splines (RCS) explored the relationships between OGTT levels at different time points and adverse pregnancy outcomes. Ultimately, nine types of machine learning models were developed using OGTT glucose values at different times to predict the risk of adverse pregnancy outcomes.</p><p><strong>Results: </strong>In subgroup analysis based on individual OGTT diagnosis, three time points were examined: fasting glucose (OGTT0), 1-hour post-glucose (OGTT1), and 2-hour post-glucose (OGTT2). OGTT0 ≥ 5.1 mmol/L was significantly associated with increased risks of ICP and neonatal hypoglycemia (p = 0.031; p = 0.022). OGTT1 ≥ 10 mmol/L correlated with higher risks of ICP and neonatal hyperbilirubinemia (p = 0.001; p = 0.002). OGTT2 ≥ 8.5 mmol/L was also linked to neonatal hyperbilirubinemia (p < 0.001). In combined impaired OGTT subgroups, the impaired fasting glucose (IFG) group had a higher incidence of neonatal hypoglycemia than the impaired glucose tolerance (IGT) group and IFG & IGT group, but a lower risk of neonatal hyperbilirubinemia. OGTT2 was negatively correlated with gestational age at delivery (β = - 0.08, p = 0.018), and both OGTT1 and OGTT2 were negatively correlated with neonatal birth weight (β = - 10.54, p = 0.008; β = - 15.04, p < 0.001), as well as OGTT2 with birth length (β = - 0.16, p = 0.009). The RCS logistic regression model indicated that the increase OGTT values was associated with the ICP risk, and the relationship between OGTT2 and neonatal hyperbilirubinemia was U-shaped. Among the various machine learning models predicting adverse outcomes, RandomForest exhibited superior performance.</p><p><strong>Conclusion: </strong>OGTT values in twin pregnancies under IVF treatment are closely linked to adverse maternal and neonatal outcomes, with post-load glucose levels potentially serving as an early biomarker for identifying poorer outcomes. The inflection points in the RCS suggest a new indication point for the association between OGTT and adverse pregnancy outcomes in twin pregnancies conceived through IVF.</p>","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":""},"PeriodicalIF":5.4,"publicationDate":"2025-04-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144023095","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Long-term cardiometabolic outcomes of primary bilateral macronodular adrenal hyperplasia.","authors":"Huixin Zhou, Peng Zhang, Yaqi Yin, Lupeng Liu, Jie Li, Huaijin Xu, Yu Fan, Xiaonan Su, Zhaohui Lyu, Weijun Gu, Yiming Mu","doi":"10.1007/s40618-025-02561-0","DOIUrl":"https://doi.org/10.1007/s40618-025-02561-0","url":null,"abstract":"<p><strong>Purpose: </strong>This study investigated long-term alterations in cardiometabolic comorbidities among patients with primary bilateral macronodular adrenal hyperplasia (PBMAH) who received surgical or conservative treatments.</p><p><strong>Methods: </strong>A single-center, retrospective study analyzed 132 patients with PBMAH, divided into a surgery group (n = 68) and a control group (n = 64) based on treatment modalities. The main outcomes included changes in blood pressure (BP), blood glucose, lipids, and body weight.</p><p><strong>Results: </strong>Among the 132 patients, hypertension, abnormal glucose metabolism, dyslipidemia, and overweight/obesity were prevalent in over 50% of cases. The surgery group demonstrated significantly greater improvements in BP, blood glucose, and weight control compared with the control group. Adrenalectomy was associated with enhanced BP control, blood glucose control, and at least one cardiometabolic risk factor control. In a group of 95 patients with mild autonomous cortisol secretion, the surgery group also exhibited higher rates of improvement in BP and blood glucose than the control group. Adrenalectomy was associated with improved BP, blood glucose, and at least one cardiometabolic risk factor.</p><p><strong>Conclusion: </strong>Our study observed that most patients with PBMAH exhibited at least one cardiometabolic risk factor. Adrenalectomy was associated with improved BP and blood glucose for patients with PBMAH, including those with mild autonomous cortisol secretion.</p>","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":""},"PeriodicalIF":5.4,"publicationDate":"2025-04-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144043991","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prevention of bicalutamide-induced breast events in patients with prostate cancer: a meta-analysis of randomized controlled trials.","authors":"Luca Spagnolo, Daniele Tienforti, Carolina Moretto, Camilla Tonni, Vittoria Donatelli, Alessandro Ferranti, Gennaro Puocci, Claudio Capuano, Arcangelo Barbonetti","doi":"10.1007/s40618-025-02583-8","DOIUrl":"https://doi.org/10.1007/s40618-025-02583-8","url":null,"abstract":"<p><strong>Purpose: </strong>This study aimed to quantitatively assess the effectiveness of tamoxifen, anastrozole, and radiotherapy in preventing bicalutamide-induced breast events-specifically gynecomastia and breast pain-in patients with prostate cancer.</p><p><strong>Methods: </strong>A systematic review and meta-analysis of randomized controlled trials (RCTs) was conducted according to PRISMA-P guidelines. A comprehensive search was performed in PubMed, Scopus, and Web of Science for English-language studies without temporal restrictions. Studies were included if they involved prostate cancer patients treated with bicalutamide receiving preventive interventions (tamoxifen, anastrozole, or radiotherapy) compared to bicalutamide alone (or bicalutamide plus placebo/sham). Data extraction focused on the incidence of gynecomastia and breast pain, and study quality was assessed using the Jadad scale. Risk ratios (RR) with 95% confidence intervals (CI) were calculated using fixed- or random-effects models, and heterogeneity was evaluated with the I² statistic. Publication bias was explored via funnel plots and the trim-and-fill method.</p><p><strong>Results: </strong>Nine RCTs met the inclusion criteria. Tamoxifen significantly reduced the risk of breast events by 82% (RR: 0.18, 95% CI: 0.08-0.38 for gynecomastia and RR: 0.18, 95% CI: 0.07-0.43 for breast pain). Radiotherapy reduced gynecomastia risk by 52% (RR: 0.48, 95% CI: 0.38-0.59) and breast pain by 34% (RR: 0.66, 95% CI: 0.48-0.90). Anastrozole did not show significant benefit.</p><p><strong>Conclusion: </strong>Tamoxifen appears to be the most effective strategy for preventing bicalutamide-induced breast events, with radiotherapy serving as a viable alternative, and anastrozole offering no benefit. Further large-scale, high-quality studies are needed to confirm these findings and refine preventive treatment recommendations.</p>","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":""},"PeriodicalIF":5.4,"publicationDate":"2025-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144047806","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Intracystic catecholamine variations in cystic pheochromocytoma.","authors":"Tomoko Fujii, Hironori Bando, Masaaki Yamamoto, Maki Kanzawa, Keitaro Kanie, Shin Urai, Yasutaka Tsujimoto, Fumikazu Sawabe, Keiko Fukazawa, Asa Hanayama, Tomoko Yamada, Kei Yoshino, Hidenori Fukuoka, Wataru Ogawa","doi":"10.1007/s40618-025-02579-4","DOIUrl":"https://doi.org/10.1007/s40618-025-02579-4","url":null,"abstract":"<p><strong>Purpose: </strong>Approximately 20% of pheochromocytomas are cystic in nature. However, research on the correlation between catecholamine and metanephrine fractions in cystic fluid and peripheral blood is limited. This study investigated the relationship between catecholamine fractions and their metabolites in peripheral blood and cystic fluid.</p><p><strong>Methods: </strong>Five patients with pathologically diagnosed cystic pheochromocytomas were included in the analysis. Catecholamine fractions and their metabolites in the cystic fluid were measured. The relationship between phenylethanolamine N-methyltransferase (PNMT) expression in tumor tissues and catecholamine fractions of cystic fluid was also assessed.</p><p><strong>Results: </strong>The elevated patterns of catecholamine and metanephrine fractions in the cystic fluid were consistent with those observed in the peripheral blood of two patients. However, in two other patients. discordance was observed, with normetanephrine predominance in the peripheral blood despite adrenaline/metanephrine and noradrenaline/normetanephrine elevations in the cystic fluid. Immunohistochemical analysis revealed that PNMT expression in tumor tissues and the elevated pattern of catecholamine fractions in the peripheral blood were consistent in all patients, except for one patient with non-elevated peripheral blood catecholamines. However, in cystic fluid, the predominantly catecholamine fraction did not consistently align with PNMT expression.</p><p><strong>Conclusion: </strong>In cystic pheochromocytoma, the elevation patterns of catecholamine fractions in cysts may not align with those in the peripheral blood and may differ relative to PNMT expression in tumor tissues.</p>","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":""},"PeriodicalIF":5.4,"publicationDate":"2025-04-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144023199","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Diagnostic cut-offs of 17-hydroxyprogesterone by LC-MS/MS in children with non-classical congenital adrenal hyperplasia.","authors":"Carla Bizzarri, Laura Chioma, Giorgia Bottaro, Laura Paone, Tommaso Todisco, Mariangela Chiarito, Cecilia Surace, Ottavia Porzio, Annamaria D'Alessandro, Lucilla Ravà, Marco Cappa","doi":"10.1007/s40618-025-02581-w","DOIUrl":"https://doi.org/10.1007/s40618-025-02581-w","url":null,"abstract":"<p><strong>Purpose: </strong>Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder, commonly caused by 21-hydroxylase mutations, that converts 17-hydroxyprogesterone (17-OHP) into 11-deoxycortisol in the adrenal cortex. Elevated morning serum levels of 17-OHP identify suspected CAH, and the diagnosis is confirmed by CYP21 A2 gene analysis. Liquid-chromatography tandem mass spectrometry (LC-MS/MS) has become the recommended method for 17-OHP measurement; however, diagnostic 17-OHP thresholds measured with LC-MS/MS are not yet defined. We aimed to identify optimal cut-offs for basal and peak 17-OHP levels after ACTH stimulation test, measured by LC-MS/MS, to distinguish non-classical CAH (NC-CAH) and heterozygous carriers (HC) from wild type subjects (WT) in children.</p><p><strong>Methods: </strong>We retrospectively analyzed the records of 198 children referred for suspected NC-CAH.</p><p><strong>Results: </strong>The ideal basal 17-OHP cut-off to differentiate NC-CAH from WT subjects was 0.94 ng/mL (2.82 nmol/L) with AUC 0.988 (95% CI 0.972-1.000; sensitivity 100%, specificity 90%). The optimal peak 17-OHP cut-off was 7.81 ng/mL (23.43 nmol/L) with AUC 0.998 (95% CI 0.994-1.000; sensitivity 100%, specificity 97%). The ideal basal 17-OHP cut-off to distinguish HC from WT subjects was 0.81 ng/mL (2.43 nmol/L), with AUC 0.727 (95% CI 0.645-0.809; sensitivity 54%, specificity 83%); while the optimal peak 17-OHP cut-off was 3.79 ng/mL (11.37 nmol/L) with AUC 0.932 (95% CI 0.894-0.971; sensitivity 96%, specificity 87%).</p><p><strong>Conclusions: </strong>The ideal cut-offs of peak 17OHP able to distinguish NC-CAH and HC individuals from WT subjects were significantly lower to using LC-MS/MS. These new thresholds demonstrate high sensitivity and specificity, making them effective in distinguishing individuals with suspected NC-CAH.</p>","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":""},"PeriodicalIF":5.4,"publicationDate":"2025-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144051405","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Safety of loco-regional treatments in neuroendocrine liver metastases compared to an hepato-cellular carcinoma cohort: a single-center study.","authors":"B Masoni, S Ferretti, R E Rossi, S De Nicola, A Bertazzoni, R Ceriani, A F Bertuzzi, F Colapietro, V Pedicini, G Ferrillo, A G A Lania, A Zerbi, A Repici, A Aghemo","doi":"10.1007/s40618-025-02578-5","DOIUrl":"https://doi.org/10.1007/s40618-025-02578-5","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Purpose: &lt;/strong&gt;Gastro-entero-pancreatic neuroendocrine neoplasms (GEP-NENs) present with neuroendocrine liver metastases (NELM) in approximately 60% of the cases. Loco-regional interventional radiology procedures are widely used in the treatment of hepatocellular carcinoma (HCC) and have been increasingly used in recent years also in the setting of NELM. We aimed to assess the safety and, as a secondary aim, the local response of trans-arterial embolization (TAE) in NELM in our consecutive cohort of GEP-NEN patients.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Materials and methods: &lt;/strong&gt;We collected data from all consecutive patients who underwent TAE for NELM secondary to GEP-NENs at IRCCS Humanitas Research Hospital, from March 2014 to February 2024. Safety and efficacy data were retrospectively collected. Short-term procedure-related adverse events (AE) were classified according to the new Society of Interventional Radiology classification. An internal analysis was also carried out on results from a cohort of patients with compensated advanced chronic liver disease complicated by HCC and treated with TAE.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;A total of 45 procedures in 21 patients were consecutively performed during the study period. Mean age at diagnosis was 56.6 years (SD 12.6) and median follow-up time was 60 months (range 10-169). At the time of treatment, the disease was bilobar in 19 cases (90.4%), with multifocal metastases present in 11 cases (52.3%). Adverse events were defined immediate (within 24 h from the procedure), early (within 30 days after the procedure), and late (&gt; 30 days after the procedure). The rate of complications was 33.3% (N = 15), mostly comprising sepsis (73.3%, N = 11) which in 2 patients was secondary to the development of a perilesional abscess, requiring extended antibiotic therapy and, in one case, percutaneous drainage. Only one case of post-procedural bleeding was reported, which required further radiological embolization. Other less common AEs were reported, including acute post-procedural hepatitis, acute heart failure, and a generalized urticarial skin rash. The median length of hospitalization per procedure was 3 days (range 1-49). Only one tumor-related death was reported during the follow-up period. Disease stabilization or partial response was achieved in 86.6% (N = 39) of the procedures. In the HCC population a lower complication rate was observed: 6.10%, 5/82 patients: 3 were represented by liver abscess, one by acute-on-chronic liver failure and one by hepatic ischemia and consequent liver decompensation with ascites. 33 patients developed partial response (33/82, 40.24%). At one-year follow-up a 82.93% recurrence rate and a 1.22% mortality rate were detected.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Conclusion: &lt;/strong&gt;While loco-regional radiological treatments are recognized as safe and effective treatments for HCC, in the setting of NELM few data are available. In the current series TAE could represent a promising option for NELM trea","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":""},"PeriodicalIF":5.4,"publicationDate":"2025-04-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143993717","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Scribe of Saqqara: adipomastia or gynecomastia?","authors":"F Trimarchi, E Martino","doi":"10.1007/s40618-025-02574-9","DOIUrl":"https://doi.org/10.1007/s40618-025-02574-9","url":null,"abstract":"","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":""},"PeriodicalIF":5.4,"publicationDate":"2025-04-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143812734","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The spectrum of hypophosphatemia in internal medicine: lessons from a Greek population study.","authors":"Efstathia Megapanou, Matilda Florentin, Fotios Barkas, Haralampos Milionis, Eleni Bairaktari, George Liamis","doi":"10.1007/s40618-025-02558-9","DOIUrl":"https://doi.org/10.1007/s40618-025-02558-9","url":null,"abstract":"<p><strong>Background: </strong>Hypophosphatemia, a common but often overlooked electrolyte disorder in hospitalized patients, lacks routine monitoring. This study aimed to assess the incidence, causes and associated biochemical and clinical features, as well as concurrent electrolyte and acid-base disturbances and mortality in patients with hypophosphatemia in an internal medicine ward.</p><p><strong>Methods: </strong>We prospectively included adult patients who either presented with or developed hypophosphatemia (serum phosphate levels < 2.5 mg/dL or 0.81 mmol/L) during hospitalization.</p><p><strong>Results: </strong>Among 4,095 patients, 4.3% (n = 176) had or developed hypophosphatemia. Of those, 126 patients (71.6%) had hypophosphatemia on admission, while 50 patients (28.4%) developed hypophosphatemia during hospitalization. All but one patient exhibited mild (72.2%) or moderate (27.3%) hypophosphatemia with serum phosphate levels between 2 and 2.5 mg/dL (0.65-0.81 mmol/L) and 1-2 mg/dL (0.32-0.65 mmol/L), respectively. The most common potential causes of phosphate depletion were respiratory alkalosis, malnutrition, drugs, e.g. diuretics and corticosteroids, diabetes mellitus and secondary hyperparathyroidism, with most patients (75.6%) exhibiting more than one likely causes. 64.8% of patients had at least one concomitant electrolyte disorder, the most common being hypocalcemia (40.9%), hyponatremia (38.6%), hypomagnesemia (23.9%) and hypokalemia (22.7%). 77% of patients exhibited pure or mixed acid-base disorders, mainly respiratory alkalosis (48.3%). Mortality was markedly higher in hypophosphatemic patients compared to the overall hospitalized population (15.9% vs. 4.26%). Furthermore, 8.1% of discharged patients had died within a month. Patients who developed hypophosphatemia during hospitalization were older, with higher incidence of hyponatremia and mortality rate (16% versus 5.6%). They also had higher parathyroid hormone and lower vitamin D levels, compared with those with hypophosphatemia on admission.</p><p><strong>Conclusions: </strong>Hypophosphatemia in internal medicine patients is often multifactorial and may signal greater illness severity. The high prevalence of associated electrolyte and acid-base disturbances suggests shared underlying mechanisms.</p>","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":""},"PeriodicalIF":5.4,"publicationDate":"2025-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143781714","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Coronary morphological and functional features in subclinical hypothyroidism with ST-Elevation myocardial infarction.","authors":"Donghui Zhang, Qi Zhao, Shenglong Hou, Chao Qu, Ruoxi Zhang, Huimin Xian","doi":"10.1007/s40618-025-02576-7","DOIUrl":"https://doi.org/10.1007/s40618-025-02576-7","url":null,"abstract":"<p><strong>Background: </strong>Subclinical hypothyroidism (SH), characterized by normal free tetraiodothyronine (FT4) but high hyroid-stimulating hormone (TSH), gains attention for relationship with cardiovascular diseases. This study aims to investigate coronary artery features of non-culprit lesions in SH patients with ST-elevation myocardial infarction (STEMI) to understand their intracoronary morphological and functional characteristics.</p><p><strong>Methods: </strong>A retrospective study of 1,570 STEMI patients with ≥ 50% non-culprit lesions analyzed coronary angiography, optical coherence tomography (OCT) imaging, & quantitative flow ratio (QFR) data. Patients were grouped based on SH status.</p><p><strong>Results: </strong>Among them, a total of 214 patients had SH. In baseline characteristics, the SH group showed lower male and smoker rates, lower free triiodothyronine (FT3), and higher high-sensitivity C-reactive protein (hs-CRP), N terminal pro B-type natriuretic peptide (NT-proBNP), and TSH levels than the non-SH group. SH group had longer lesions, more micro-vessels, more cholesterol crystals, and lower QFR values for non-culprit lesions. Additionally, SH was an independent predictor for coronary parameters including micro-vessel, cholesterol crystal, and QFR values ≤ 0.8. And the effect of SH on those coronary parameters did not show any interaction in different subgroups.</p><p><strong>Conclusions: </strong>There was an association between SH and specific coronary artery characteristics, including increased plaque inflammation and plaque instability (the increase of micro-vessels and cholesterol crystal detected by OCT) and potential endothelial dysfunction (the decrease of QFR value detected by QFR). Our forthcoming research will prioritize extensive, multi-center prospective studies aimed at elucidating the precise mechanisms and long-term prognosis of SH on coronary artery lesions.</p>","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":""},"PeriodicalIF":5.4,"publicationDate":"2025-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143774800","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Androgen receptor CAG repeat polymorphism might be a possible cause of familial constitutional delay of growth and puberty.","authors":"Gözde Akın Kağızmanlı, Reyhan Deveci Sevim, Hayrullah Manyas, Ahu Paketçi, Korcan Demir, Ece Böber, Gönül Çatlı, Ahmet Anık, Ayhan Abacı","doi":"10.1007/s40618-024-02502-3","DOIUrl":"10.1007/s40618-024-02502-3","url":null,"abstract":"<p><strong>Background: </strong>Induction of puberty in boys with constitutional delay of growth and puberty (CDGP) through a short course of low-dose testosterone therapy indicates the critical interaction between testosterone and the androgen receptor (AR) during the activation and maturation of the hypothalamic-pituitary-gonadal axis at puberty onset. Previous studies have shown an inverse relationship between the CAG repeat length and the transactivation function or expression level of the AR gene.</p><p><strong>Objective: </strong>We aimed to investigate whether the AR CAG repeat polymorphism has any implications on pubertal delay.</p><p><strong>Subjects and methods: </strong>Thirty-three male patients with CDGP were enrolled in the study group, while 53 age-matched healthy individuals who had entered puberty on time were included in the control group. The CAG repeat length was determined through direct DNA sequencing analysis.</p><p><strong>Results: </strong>The median chronological age of boys with CDGP was 14.2 (14.1-14.6) years, compared to 14.2 (13.65-14.8) years for healthy subjects (p = 0.5). In the CDGP group, 22 (66.7%) children had a family history of the condition. There was no significant difference between the groups in terms of AR CAG repeat length (median AR CAG repeat length: 21 (20-24.5) and 20 (20-24), respectively, p = 0.1). However, in boys with CDGP with a similar family history (n = 22), a significantly longer AR CAG repeat length was found compared to the control group (n = 53) (median AR CAG repeat length: 22 (20-25) and 20 (20-24), respectively, p = 0.03). The median AR CAG repeat length in boys without a family history was 21 (20-22) triplets. Although boys with a family history had a slightly longer AR CAG repeat length than those without, the difference was not statistically significant (p = 0.07). Additionally, no significant differences were observed between boys with non-familial CDGP and control subjects (p = 0.8). Furthermore, no significant differences in anthropometric characteristics or hormonal parameters were found when patients with CDGP were categorized by AR CAG repeat length quartiles.</p><p><strong>Conclusion: </strong>This is the first study to investigate the role of AR CAG polymorphism in the etiopathogenesis of CDGP. Our findings suggest that the AR CAG repeat length may be associated with familial CDGP.</p>","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":"959-966"},"PeriodicalIF":5.4,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142683213","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}