Journal of Clinical Endocrinology & Metabolism最新文献

{"title":"Adrenal Venous Sampling Using Metanephrine in Primary Aldosteronism With or Without Cortisol Co-Secretion.","authors":"Eduardo Z Kawahara, Jessica Okubo, Aline C B S Cavalcante, Bruna Pilan, Paula Frudit, Caio A A Pereira, Larissa Basmage, Jacqueline M Viel, Ana Alice W Maciel, Thais C Freitas, Gustavo F C Fagundes, Tatiana S Goldbaum, Luciana P Brito, Nathalia L Gomes, Maria Adelaide A Pereira, Fernando M A Coelho, Felipe L Ledesma, Jose L Chambo, Luiz A Bortolotto, Andrea Pio-Abreu, Giovanio V Silva, Luciano F Drager, Maria Candida B V Fragoso, William C Nahas, Francisco C Carnevale, Ana Claudia Latronico, Berenice B Mendonca, Madson Q Almeida","doi":"10.1210/clinem/dgae896","DOIUrl":"https://doi.org/10.1210/clinem/dgae896","url":null,"abstract":"<p><strong>Context: </strong>The role of plasma metanephrine in adrenal venous sampling (AVS) for assessing lateralization in primary aldosteronism (PA) requires further clarification.</p><p><strong>Objective: </strong>To evaluate the performance of plasma metanephrine in AVS for determining aldosterone lateralization in PA, with or without mild autonomous cortisol secretion (MACS).</p><p><strong>Methods: </strong>Sequential AVS under cosyntropin stimulation was conducted in 58 consecutive patients with PA and indication for AVS. The selectivity index (SI) was assessed using plasma metanephrine (SIMN) and cortisol (SIC). The lateralization index (LI) for aldosterone was calculated using metanephrine (LIA/MN) and cortisol (LIA/C).</p><p><strong>Results: </strong>Right SIMN was significantly higher than left SIMN (127.91 nmol/L [78.12, 239.12] vs. 46.16 nmol/L [26, 73.87]; p< 0.001). SIMN and SIC were strongly correlated in both the right adrenal vein (r=0.518, p< 0.001) and the left adrenal vein (r=0.435, p< 0.001). A SIMN > 6.45 demonstrated a sensitivity and specificity of 100%, outperforming the cut-off of 12 for identifying successful catheterization. Six cases with SIMN > 12 and SIC between 3 and 5 indicated that a SIC > 3 is sufficient for confirming successful cannulation. LIA/MN and LIA/C were significantly correlated (r=0.752, p< 0.001), with PA lateralization concordant in 93.1% of cases. Two discordant cases (unilateral PA by cortisol, bilateral by metanephrine) exhibited non-classical histology, which is associated with a higher risk of PA recurrence. MACS was identified in 15 out of 58 patients (25.86%) and generally did not influence AVS lateralization, except when aldosterone and cortisol were secreted by different adrenal lesions.</p><p><strong>Conclusion: </strong>Metanephrine was superior to cortisol after cosyntropin for assessing selectivity and equivalent to cortisol for lateralization. Moreover, MACS did not impact lateralization in AVS under cosyntropin in most cases.</p>","PeriodicalId":50238,"journal":{"name":"Journal of Clinical Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":5.0,"publicationDate":"2024-12-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142899960","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":"Higher Circulating Resistin Levels Linked to Increased Sarcopenia Risk in Older Adults.","authors":"Mi Kyung Kwak, Ji Yeon Baek, So Jeong Park, Hee-Won Jung, Eunju Lee, Il-Young Jang, Eunhye Ji, Eun-Gyoung Hong, Yunju Jo, Dongryeol Ryu, Beom-Jun Kim","doi":"10.1210/clinem/dgae894","DOIUrl":"https://doi.org/10.1210/clinem/dgae894","url":null,"abstract":"<p><strong>Context: </strong>Experimental evidence indicates that resistin, an adipokine, negatively impacts muscle metabolism by hindering myogenesis.</p><p><strong>Objective: </strong>To explore resistin's potential as a biomarker of muscle health in humans by examining the relationship between circulating resistin levels and sarcopenia in older adults.</p><p><strong>Design and setting: </strong>A case-control study conducted in a geriatric clinical unit.</p><p><strong>Participants: </strong>The study included 247 individuals aged 65 and older who underwent comprehensive geriatric evaluations.</p><p><strong>Main outcome measures: </strong>Sarcopenia was defined based on Asian-specific thresholds, with serum resistin concentrations measured using an enzyme-linked immunosorbent assay.</p><p><strong>Results: </strong>After adjusting for sex, age, fat mass, smoking, osteoarthritis, and diabetes, participants with sarcopenia, low muscle mass, and weak muscle strength exhibited at least 27.0% higher circulating resistin concentrations than controls (P = 0.002 to 0.003). Elevated serum resistin levels were inversely associated with skeletal muscle mass, gait speed, and the short physical performance battery score, and positively associated with the time to complete five chair stands (P = 0.019 to 0.048). Higher serum resistin levels were linked to an increased risk of sarcopenia, low muscle mass, and weak muscle strength (all P = 0.005). Finally, participants in the highest resistin quartile had at least three times higher odds of having adverse muscle outcomes compared to those in the lowest quartile (P = 0.007 to 0.029).</p><p><strong>Conclusion: </strong>This study is to establish a link between blood resistin levels and sarcopenia, suggesting that circulating resistin may serve as a potential biomarker reflecting poor muscle health in humans.</p>","PeriodicalId":50238,"journal":{"name":"Journal of Clinical Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":5.0,"publicationDate":"2024-12-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142886395","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":"Significance of Thyroid Stimulating Immunoglobulin and Thyrotropin Receptor Antibody in Graves' Disease.","authors":"Rongguang Peng, Pu Xie, Zhou Jin, Wenzhong Zhou, Yanqiu Wang, Xinxin Chen, Qinglei Yin, Liyun Shen, Lingyang Meng, Lei Ye, Yulin Zhou, Shu Wang","doi":"10.1210/clinem/dgae892","DOIUrl":"https://doi.org/10.1210/clinem/dgae892","url":null,"abstract":"<p><strong>Context: </strong>Thyroid stimulating immunoglobulin (TSI) and thyrotropin receptor antibody (TRAb) are specific biomarkers for Graves' disease (GD), but their clinical characteristics are not fully understood.</p><p><strong>Objectives: </strong>To clarify the clinical features and prognostic significance of TSI and TRAb in patients with GD.</p><p><strong>Design: </strong>A retrospective data analysis and a follow-up study.</p><p><strong>Methods: </strong>Medical records of patients newly diagnosed with GD were examined. TSI and TRAb correlations were assessed using Passing-Bablok regression and Bland-Altman plot. Patients were categorized into unresolved (Group A) and resolved (Group B) hyperthyroidism based on thyroid function after one month of therapy. The relationship between thyroid function and changes in TRAb and TSI was analyzed. Logistic regression identified relapse risk factors, including TSI levels at antithyroid drugs (ATDs) withdrawal in the follow-up study.</p><p><strong>Results: </strong>Data from 957 patients (762 female and 195 male) revealed a strong correlation between TRAb and TSI (r=0.873, p < 0.001). Compared to group B, group A showed minimal antibody decline [100% (interquartile range (IQR) 87.91%-115.1%) and 100% (IQR 85.03%-118.3%), respectively]. Among 206 patients followed for over 12 months after ATD discontinuation, the relapse rate was 41.26%. Relapse was more frequent in patients with positive TSI (54.84% vs. 35.42%, p < 0.05). Positive TSI levels at withdrawal, past history of GD, age and mild thyroid-associated ophthalmopathy were independent relapse predictors.</p><p><strong>Conclusions: </strong>TSI and TRAb are strongly correlated in GD, with slow antibody decline linked to unresolved hyperthyroidism. Discontinuing ATDs may be considered when both TSI and TRAb are negative.</p>","PeriodicalId":50238,"journal":{"name":"Journal of Clinical Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":5.0,"publicationDate":"2024-12-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142883528","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":"Altered microbiome signature in Cushing's syndrome persists beyond remission. A longitudinal and cross-sectional analysis.","authors":"German Rubinstein, Ilias Lagkouvardos, Evangelia Intze, Andrea Osswald, Stephanie Zopp, Leah Theresa Braun, Adriana Albani, Heike Künzel, Anna Riester, Felix Beuschlein, Martin Reincke, Katrin Ritzel","doi":"10.1210/clinem/dgae887","DOIUrl":"https://doi.org/10.1210/clinem/dgae887","url":null,"abstract":"<p><strong>Introduction: </strong>Patients with Cushing's syndrome (CS) suffer from metabolic and cardio-vascular comorbidities caused by hypercortisolism. The human gut microbiome responds to different pathological conditions. Aim of our study was to analyze the impact of chronic endogenous cortisol excess on the gut microbiome.</p><p><strong>Methods: </strong>We prospectively recruited 18 patients with endogenous CS of different etiologies (mainly pituitary CS, n=13). Patients provided a stool sample during active CS and 1-2 years after successful surgical treatment being in biochemical remission. In addition, 36 patients, in whom CS was excluded, served as an obese control group and 108 samples from healthy lean students were used as a reference group. Amplicons of the V3/V4 region of the 16S rRNA gene, from every sample, were sequenced and clustered into Operational Taxonomic Units (OTUs). The microbial profiles of CS patients were then compared to the control and reference groups using R scripts.</p><p><strong>Results: </strong>In comparison to lean references, the gut microbiome of patients with florid CS demonstrated a disturbed microbial profile. Microbial dysbiosis of patients with CS was maintained even after biochemical remission following curative surgery.</p><p><strong>Conclusions: </strong>Patients with CS have a distinct and disturbed gut microbiome that persists even after surgery, indicating a possible target for additional probiotic interventions to accelerate convergence to a healthy microbiome.</p>","PeriodicalId":50238,"journal":{"name":"Journal of Clinical Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":5.0,"publicationDate":"2024-12-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142883526","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 Value of LC-MS/MS in Apparent Bilateral Aldosterone Suppression in Adrenal Venous Sampling for Primary Aldosteronism.","authors":"Wei Li, Qixin Zhou, Yifan He, Wenwen He, Ying Song, Jinbo Hu, Yue Wang, Ting Luo, Qifu Li, Shumin Yang","doi":"10.1210/clinem/dgae891","DOIUrl":"https://doi.org/10.1210/clinem/dgae891","url":null,"abstract":"<p><strong>Context: </strong>Adrenal venous sampling (AVS) is recommended for subtyping primary aldosteronism (PA), however, it is unreliable when apparent bilateral aldosterone suppression (ABAS) occurs, defined as aldosterone/cortisol ratio in the adrenal vein being bilaterally lower than that in the inferior vena cava. The value of Liquid chromatography-tandem mass spectrometry (LC-MS/MS) in PA subtyping when ABAS occurs is unclear.</p><p><strong>Objective: </strong>To determine whether LC-MS/MS can reduce the occurrence of ABAS and misdiagnosis of PA subtyping.</p><p><strong>Design, setting, participants and main outcome: </strong>Aldosterone and cortisol in AVS samples from 219 patients with PA were measured by LC-MS/MS and immunoassay. Then ABAS occurrence and misdiagnosis rate of PA subtyping were calculated.</p><p><strong>Results: </strong>Among 219 patients with PA, 111 and 60 received non-ACTH and ACTH-stimulated AVS, respectively, and 48 received both. In unstimulated AVS, LC-MS/MS reduced the ABAS occurrence compared to immunoassay [10.7% (17/159) vs. 3.1% (5/159)]. Among 159 patients with unstimulated AVS, there were 77 patients who had final subtyping diagnosis based on postoperative outcomes. The misdiagnosis rate of immunoassay and LC-MS/MS was 10.4% (8/77) and 9.1% (7/77), respectively. However, the misdiagnosis were more common in patients with ABAS than in those without ABAS. For immunoassay, five out of six ABAS patients were misdiagnosed, while 3/71 non-ABAS patients were misdiagnosed. For LC MS/MS, only one ABAS patient had follow-up outcome and he was misdiagnosed, while 6/76 non-ABAS patients were misdiagnosed. Similar results were found in ACTH-stimulated AVS.</p><p><strong>Conclusion: </strong>LC-MS/MS measurement of aldosterone and cortisol is a new resolution when ABAS occurs.</p>","PeriodicalId":50238,"journal":{"name":"Journal of Clinical Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":5.0,"publicationDate":"2024-12-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142883532","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":"Systematic Review: Efficacy of Medical Therapy on Outcomes Important to Adult Patients with X-Linked Hypophosphatemia.","authors":"Dalal S Ali, Reza D Mirza, Farah Alsarraf, Salma Hussein, Hajar Abu Alrob, Natasha M Appelman-Dijkstra, Signe Sparre Beck-Nielsen, Martin Biosse-Duplan, Maria Luisa Brandi, Thomas O Carpenter, Catherine Chaussain, Martine Cohen-Solal, Rachel K Crowley, Karel Dandurand, Pablo Florenzano, Seiji Fukumoto, Claudia Gagnon, Paul Goodyer, Corinna Grasemann, Erik A Imel, Suzanne M Jan de Beur, Anna Lehman, E Michael Lewiecki, Emmett Morgante, Leanne M Ward, Aliya A Khan, Gordon Guyatt","doi":"10.1210/clinem/dgae890","DOIUrl":"https://doi.org/10.1210/clinem/dgae890","url":null,"abstract":"<p><strong>Objective: </strong>To examine the highest certainty evidence addressing the management of X-linked hypophosphatemia (XLH) in adults to inform treatment recommendations.</p><p><strong>Methods: </strong>We searched Embase, MEDLINE, Web of Science, and Cochrane Central up to May 2023. Eligible studies included RCTs and observational studies of individuals 18+ with clinically or genetically confirmed XLH. Manuscripts comparing burosumab to no treatment or conventional therapy (phosphate and active vitamin D) and conventional therapy to no treatment were included. Two reviewers independently determined eligibility, extracted data, and assessed risk of bias (RoB). GRADE methodology was used to assess evidence certainty.</p><p><strong>Results: </strong>We screened 4,114 records, after removing duplicates, and assessed 254 full texts. One RCT and two observational studies were eligible. The RCT of burosumab versus no treatment had low RoB. Burosumab probably improves pain from fracture/pseudofracture healing (moderate certainty) but has little or no impact on direct pain measures (moderate certainty). Burosumab may reduce the need for parathyroidectomy (low certainty) but has little or no impact on fatigue (high certainty), stiffness (moderate certainty), and mobility (low certainty) over 24 weeks. Burosumab may increase dental abscess risk (low certainty). Indirect evidence comparing burosumab to conventional therapy provided low certainty regarding burosumab versus conventional therapy. Two observational studies on conventional therapy versus no treatment had high RoB and very low certainty regarding the impact of conventional therapy on patient-important outcomes.</p><p><strong>Conclusion: </strong>No formal comparisons between burosumab and conventional therapy in adults exist. Evidence for conventional therapy versus no treatment is very uncertain. Our review highlights the need for more data on the long-term effects of burosumab and conventional therapy on patient-important outcomes in adult patients with XLH.</p>","PeriodicalId":50238,"journal":{"name":"Journal of Clinical Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":5.0,"publicationDate":"2024-12-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142883530","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":"Increased Salt Sensitive Blood Pressure in Women Versus men: Is Relative Hyperaldosteronism the Mechanism?","authors":"Ezgi Caliskan Guzelce, Kelly Yin Han Wong, Mahyar Heydarpour, Luminita H Pojoga, Jose Romero, Jonathan S Williams, Gail K Adler, Ellen Seely, Gordon H Williams","doi":"10.1210/clinem/dgae871","DOIUrl":"https://doi.org/10.1210/clinem/dgae871","url":null,"abstract":"<p><strong>Context: </strong>Women versus men have more Salt sensitive blood pressure (SSBP) and higher stimulated aldosterone (ALDO) levels, suggesting that their increased SSBP is secondary to a relative hyper-ALDO state. Contrariwise, men versus women have higher sedentary ALDO levels.</p><p><strong>Objective: </strong>Thus, the present project was designed to address the question are women versus men in a relatively hyper-ALDO state?</p><p><strong>Methods: </strong>363 women, and 483 men were selected from HyperPATH cohort to assess the potential underlying mechanism for observed sex differences.</p><p><strong>Results: </strong>Women had greater SSBP, greater ALDO and vasculature response to Ang II, and higher upright ALDO/plasma renin activity, but men on both restricted and liberal salt diets had higher basal levels of supine ALDO, PRA levels, and other ALDO secretagogues. Using 24-hour urine ALDOs to assess overall production, ALDO did not differ by sex regardless of salt intake, except when assessed in subsets. Normotensive women vs men had greater urine ALDO, and women vs men younger than 51 had higher urine ALDO.</p><p><strong>Conclusion: </strong>1) Lower Ang II responsiveness in Ang II targeted organs was observed in men vs women. 2) Similar 24-hour urine ALDO levels in women and men do not support the concept that relative hyper-ALDO is the mechanism for sex difference in SSBP.The data also suggest that the SSBP in women, in some cases, may be benign since it is secondary to a BP reduction on the restricted salt diet not an increase on the liberal salt diet.</p>","PeriodicalId":50238,"journal":{"name":"Journal of Clinical Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":5.0,"publicationDate":"2024-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142865949","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":"Clinical and molecular genetic characteristics of patients with hereditary hypophosphatemia.","authors":"Mehmet Eltan, Ceren Alavanda, Zehra Yavas Abali, Busra Gurpinar Tosun, Ilknur Kurt, Tarik Kirkgoz, Sercin Guven, Sare Betul Kaygusuz, Saygin Abali, Didem Helvacioglu, Tulay Guran, Ibrahim Gokce, Ahmet Arman, Abdullah Bereket, Pinar Ata, Serap Turan","doi":"10.1210/clinem/dgae868","DOIUrl":"https://doi.org/10.1210/clinem/dgae868","url":null,"abstract":"<p><strong>Background: </strong>Hereditary hypophosphatemia (HH), is a rare condition related to decreased renal tubular phosphate reabsorption. Although X-linked hypophosphatemia or PHEX gene variant is the most frequent cause of HH, recent advances in next-generation sequencing (NGS) techniques enable the identification of genetic etiologies as a whole.</p><p><strong>Objective: </strong>To identify genetic causes of HH using various genetic testing methods and to compare clinical features between FGF23-dependent and FGF23-independent HH groups.</p><p><strong>Design and methods: </strong>Fifty patients (24 males) from 39 unrelated families were included. Based on initial evaluation, PHEX gene sequencing was performed in patients with clinical and biochemical findings suggestive of FGF23-dependent HH. If sequencing showed no alterations, multiplex ligation-dependent probe amplification (MLPA) analysis for PHEX was conducted. Initially, a specific gene panel was performed for FGF23-independent HH or those in whom PHEX gene showed no genetic alteration.</p><p><strong>Results: </strong>Genetic etiology was revealed in 43 patients from 33 families. PHEX gene variants were identified (four novel) in 24 patients from 19 unrelated families (50%). SLC34A3 was the second most common (16.6%) and the rest were rarer causes of hypophosphatemia (DMP1 n=3, SLC34A1 n=2, CLCN5 n=2, OCRL n=2, FAM2°C n=1, SLC2A2 n=1). When the genetically proven FGF23-dependent (n=28) and FGF23-independent (n=15) HH groups were compared for clinical and biochemical features; lower phosphate and TmP/GFR SDSs and higher ALP SDS with more severe clinical rickets were detected in FGF23-dependent group, whereas, higher serum and urine calcium and lower PTH levels were detected in FGF23-independent group.</p><p><strong>Conclusions: </strong>The application of MLPA provided an additional explanatory value of 10% to the molecular etiology. However, 10% of the cases of HH still remain unexplained even after a comprehensive genetic work-up. Biochemical findings suggest distinct biochemical profiles between FGF23-dependent and FGF23-independent HH groups.</p>","PeriodicalId":50238,"journal":{"name":"Journal of Clinical Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":5.0,"publicationDate":"2024-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142865980","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":"Approach to the Patient: From Endocrinopathy to the Diagnosis of a Histiocytic Disorder.","authors":"Polyzois Makras, Dana Erickson, Caroline J Davidge-Pitts, Eli L Diamond, Carl E Allen, Kenneth L McClain, Jithma P Abeykoon, Ronald S Go, Krishmita Siwakoti, Houman Sotoudeh, Aishwarya Ravindran, Lucinda M Gruber, Gaurav Goyal","doi":"10.1210/clinem/dgae827","DOIUrl":"https://doi.org/10.1210/clinem/dgae827","url":null,"abstract":"<p><p>Endocrinopathies are frequently the initial presentation of histiocytic neoplasms, which are rare hematologic disorders affecting multiple organ systems. Langerhans cell histiocytosis and Erdheim-Chester disease are 2 such disorders known to infiltrate the hypothalamus and/or pituitary gland, leading to arginine vasopressin deficiency (AVP-D) and anterior pituitary dysfunction (APD) in 20% to 30% of cases, often as the first manifestation. Conversely, histiocytic disorders account for a notable proportion (10-15%) of all pituitary stalk lesions. The diagnosis of histiocytoses is often delayed in such cases due to the nonspecific presentation of endocrinopathies and pituitary involvement. Consequently, endocrinologists are at the frontline and uniquely positioned to achieve early diagnosis by recognizing the varied nonendocrine features of these disorders. This article provides an overview of the endocrine manifestations of histiocytic disorders and presents a simplified algorithm to guide the diagnostic workup in cases presenting with \"idiopathic\" AVP-D or APD. Such cases should be evaluated for histiocytic neoplasms with additional imaging studies and biopsies of suspected disease sites. If no disease site beyond the pituitary is identified, the risks and benefits of a pituitary stalk lesion biopsy must be carefully considered. While treatments of histiocytic neoplasms are highly efficacious, endocrinopathies are considered permanent and require long-term hormone replacement. It remains unclear whether early diagnosis and novel targeted therapies can reverse these endocrine disorders. Therefore, the role of the endocrinologist role is critical in the diagnosis and management of these rare diseases.</p>","PeriodicalId":50238,"journal":{"name":"Journal of Clinical Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":5.0,"publicationDate":"2024-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142856610","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":"Approach to the patient with Cyclical Cushing Syndrome.","authors":"Amandine Ferriere, Marie-Laure Nunes, Antoine Tabarin","doi":"10.1210/clinem/dgae864","DOIUrl":"https://doi.org/10.1210/clinem/dgae864","url":null,"abstract":"<p><p>Cyclic Cushing's syndrome is a sub-entity of Cushing's syndrome, characterized by repeated episodes of excess cortisol (peaks) followed by spontaneous periods of normal or low cortisol secretion (troughs). Although considered rare, its prevalence reaches 70/514 to 91/514 (14 to 18%) in patients with Cushing's syndrome according to its definition in some reported series and can concern all etiologies of Cushing's syndrome. Physicians should be alert to the presence of cyclical Cushing's syndrome in patients with fluctuating symptoms or where the results of biochemical investigations indicate eu- or hypocortisolism in patients with clinical Cushing's syndrome. Cyclicity leads to difficulties in establishing the diagnosis of CS and discovering its etiology, since patients may have paradoxical/aberrant results in biochemical investigations, including inferior petrosal sinus sampling. Similarly, cyclicity complicates the interpretation of therapeutic outcomes and interferes with medical treatments of Cushing's syndrome. Apart from cyclicity, variability of hypercortisolism is a more common phenomenon seen in Cushing's syndrome but can cause similar problems. Since the pathophysiology and molecular basis of cyclic Cushing's syndrome are largely unknown, a marked variability in cortisol secretion can be considered as representing a milder aspect of cyclicity within the same continuum. In this issue of \"Approach to the patient\", the characteristics, main diagnostic and therapeutic pitfalls, as well as strategies for diagnosing and managing cyclicity and marked variability in Cushing's syndrome, are discussed from the clinician's perspective using three clinical cases.</p>","PeriodicalId":50238,"journal":{"name":"Journal of Clinical Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":5.0,"publicationDate":"2024-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142865977","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}