European Journal of Endocrinology最新文献

{"title":"Discordance between adrenal vein sampling and imaging: the role of unilateral cortisol excess.","authors":"Megan Grundy, Alexander A Leung, Martin Hyrcza, Janice L Pasieka, Denise Chan, Stefan J Przybojewski, Chi-Bun Benny So, Dennis Orton, Adrian Harvey, Gregory A Kline","doi":"10.1093/ejendo/lvaf019","DOIUrl":"https://doi.org/10.1093/ejendo/lvaf019","url":null,"abstract":"<p><strong>Objective: </strong>Adrenal vein sampling (AVS) is considered the gold-standard for identifying unilateral primary aldosteronism (PA), but is sensitive to any asymmetry in cortisol production. Sub-clinical autonomous cortisol production likely contributes to discordance between cross-sectional imaging and AVS.</p><p><strong>Design and methods: </strong>Retrospective chart review was performed of patients in Calgary, Alberta who 1) had a diagnosis of PA with clear adrenal mass, 2) had discordant AVS and cross-sectional imaging, and 3) underwent dexamethasone-suppressed NP59-iodocholesterol adrenal scintigraphy (n=25). Post-operative biochemical and clinical outcomes were evaluated. Surgical pathology was analysed with immunohistochemical staining for CYP11B1 and CYP11B2.</p><p><strong>Results: </strong>NP59 scanning demonstrated autonomous steroidogenesis from the same side as the CT-identified lesion, despite discordant AVS results, in 19/25 cases. Out of the 16 patients who underwent adrenalectomy (guided by NP59), 11 cases had a final diagnosis of cortisol-producing adenoma with bilateral PA, while the final diagnosis in the remaining 5 cases was cortisol-producing adenoma with unilateral PA (defined by a complete biochemical response). All cases pre-operatively had low/suppressed ACTH that rose post-adrenalectomy, in keeping with resolution of cortisol autonomy. AVS incorrectly diagnosed the subtype of PA or falsely localized the side of aldosterone excess in 10/16 cases.</p><p><strong>Conclusions: </strong>Discordant CT and AVS results in patients with PA and obvious adrenal mass are often explained by sub-clinical asymmetric cortisol excess. Clinicians should be aware of the limitations of AVS in the presence of subtle autonomous cortisol secretion and must be able to counsel patients regarding the possible outcomes from surgery when discordant lateralization is present.</p>","PeriodicalId":11884,"journal":{"name":"European Journal of Endocrinology","volume":" ","pages":""},"PeriodicalIF":5.3,"publicationDate":"2025-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143440154","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Phenotype and genotype of 23 patients with hypopituitarism and pathogenic GLI2 variants.","authors":"Karine Aouchiche, Camille Charmensat, Pertuit Morgane, Cécile Teinturier, Patricia Bretones, Aude Brac de la Perriere, Valérie Layet, Natacha Bouhours Nouet, Marie Christine Vantyghem, Elsa Haine, Marie-Laure Nunes-Sanchez, Odile Camart, Sabine Baron, Frederic Castinetti, Anne Barlier, Thierry Brue, Rachel Reynaud, Alexandru Saveanu","doi":"10.1093/ejendo/lvaf015","DOIUrl":"https://doi.org/10.1093/ejendo/lvaf015","url":null,"abstract":"<p><strong>Objective: </strong>To analyze the phenotype and genotype of patients with congenital hypopituitarism and pathogenic GLI2 variants.</p><p><strong>Methods: </strong>A large cohort of patients with hypopituitarism was screened for GLI2 variants using a next-generation sequencing panel. Genotype-phenotype correlations were then assessed using GENHYPOPIT phenotypic data.</p><p><strong>Results: </strong>Of the 39 GLI2 variants identified in 717 index cases, 17 were classified as pathogenic or likely pathogenic. All these GLI2 variants were identified in 23 patients (17 index cases and 6 relatives) with associated pituitary stalk interruption syndrome or extrapituitary manifestations. GLI2 variants were the most frequent identified genetic cause in patients with syndromic hypopituitarism (68%): 88% (15/17) of mutations were truncating variants, and 45% were de novo. Most patients with a GLI2 variant (21/23, 91%) had hypopituitarism, including 21.7% (5/23) presenting isolated growth hormone deficiency. Two patients had Kallman syndrome. Pituitary morphological abnormalities were present in 84% of the patients with pathogenic GLI2 variants (index cases and affected relatives). The remaining signs included neurocognitive disorders (38%), hexadactyly (27%), cardiac septal defects and renal/vesical abnormalities. A possible digenic origin (GLI2/HESX1) is proposed in one family.</p><p><strong>Conclusion: </strong>In this large multicentric international cohort, GLI2 was the most frequently identified genetic cause of syndromic congenital hypopituitarism with constant association pituitary stalk interruption syndrome or extrapituitary clinical features. In addition to polydactyly and neurocognitive disorders, cardiac and renal abnormalities were also frequently observed and should be investigated further. The variable expression of GLI2-associated phenotypes justifies further research in this area.</p>","PeriodicalId":11884,"journal":{"name":"European Journal of Endocrinology","volume":" ","pages":""},"PeriodicalIF":5.3,"publicationDate":"2025-02-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143406465","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Descriptive analysis and outcomes of PitNETs treated surgically during pregnancy and postpartum.","authors":"Cindy Odot, Mathilde Brière, Chiara Villa, Théophraste Henry, Stephan Gaillard, Philippe Caron, Lionel Groussin, Yves Reznik, Anne Rod, Camille Ghorra, Marie-Laure Raffin-Sanson, Bertrand Baussart, Mirella Hage","doi":"10.1093/ejendo/lvaf018","DOIUrl":"https://doi.org/10.1093/ejendo/lvaf018","url":null,"abstract":"<p><strong>Objective: </strong>Data on pituitary neuroendocrine tumors (PitNETs) surgically treated during pregnancy is limited, and no studies have compared these cases to those treated in non-pregnant women. This study aimed to describe the clinical, radiological, and histological profiles of patients treated surgically for PitNETs during pregnancy and evaluate long-term prognosis.</p><p><strong>Design: </strong>This study was multicentric, observational and retrospective.</p><p><strong>Methods: </strong>We included 10 patients from 5 university hospitals who underwent surgical treatment for PitNETs during pregnancy or within 12 months postpartum, along with 30 matched non-pregnant controls treated surgically for PitNETs. Clinical and histological data, as well as progression-free survival without additional treatment, were compared between pregnant and non-pregnant patients.</p><p><strong>Results and conclusions: </strong>Among the 10 PitNETs, 4 were corticotropic, 2 gonadotropic, 2 lactotropic, and 2 somatotropic. The primary surgical indication (tumour syndrome with or without failure of medical treatment) was similar between the two groups: 7/10 vs 19/30 (p = 1.00). There was no statistically significant difference in volume (p = 0.072) or radiological invasion markers (optic chiasm compression, p = 0.059, and cavernous sinus invasion, p = 0.274). However, PitNETs in pregnant women showed higher mitotic activity (p = 0.038) and were more frequently classified as grade 2b (Trouillas clinicopathological classification; p=0.049). The need for second-line treatment was also more frequent (p = 0.005). PitNETs requiring surgical treatment during pregnancy are characterized by increased proliferative activity and progression after surgery. Despite this, the long-term prognosis remains favorable. These results need confirmation in a larger study.</p>","PeriodicalId":11884,"journal":{"name":"European Journal of Endocrinology","volume":" ","pages":""},"PeriodicalIF":5.3,"publicationDate":"2025-02-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143373801","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"KDM1A genetic alterations, a rare cause of Primary Bilateral Macronodular Adrenal Hyperplasia, strongly associated with food-dependent Cushing's syndrome: results of its systematic germline screening in 301 index cases and genotype/phenotype correlation.","authors":"Lucas Bouys, Patricia Vaduva, Anne Jouinot, Florian Violon, Anna Vaczlavik, Maxime Barat, Helaine Charchar, Fanny Chasseloup, Crystal Kamilaris, Stéphanie Espiard, Magalie Haissaguerre, Gérald Raverot, Matthias Kroiss, Annabel Berthon, Karine Perlemoine, Igor Tauveron, Laurence Guignat, Rossella Libé, Lionel Groussin, Guillaume Assié, Eric Pasmant, Martin Reincke, Françoise Borson-Chazot, Amandine Ferrière, Marie-Christine Vantyghem, Constantine A Stratakis, Peter Kamenický, Maria Candida Barisson Villares Fragoso, Albain Chansavang, Bruno Ragazzon, Jérôme Bertherat","doi":"10.1093/ejendo/lvaf016","DOIUrl":"https://doi.org/10.1093/ejendo/lvaf016","url":null,"abstract":"<p><strong>Introduction: </strong>ARMC5 is the most prevalent gene predisposing to Primary Bilateral Macronodular Adrenal Hyperplasia (PBMAH), but germline KDM1A variants have been identified in the rare PBMAH associated with food-dependent Cushing's syndrome (FDCS). The purpose of this work was to assess the frequency of KDM1A variants in a large series of PBMAH patients.</p><p><strong>Methods: </strong>301 consecutive PBMAH index cases from 8 international Endocrinology departments were included. Clinical, biological and imaging data were collected retrospectively.</p><p><strong>Results: </strong>10 (3.3%) patients carried a germline KDM1A pathogenic or likely pathogenic variant, 60 (19.9%) carried a germline ARMC5 alteration, 231 (76.8%) had no identified genetic predisposition. FDCS was present in all patients with KDM1A variants and absent in the 2 other groups. KDM1A patients had a higher 24h urinary free cortisol (3.0-fold ULN vs 1.36 for ARMC5 patients and 0.66 for wild-type patients, respectively, p=0.0001). In accordance with FDCS pathophysiology, patients with KDM1A variants had a lower morning fasting plasma cortisol (192 nmol/L vs 407 and 428, respectively, p=0.0003) and a higher midnight plasma cortisol (487 nmol/L vs 297 and 171.96, respectively, p=0.0004). Morning/midnight plasma cortisol ratio below 0.65 holds 100% sensitivity and specificity for the detection of FDCS. All patients with KDM1A variants were women, vs 65% of ARMC5 patients and 67% of wild-type patients (p=0.0337).</p><p><strong>Conclusion: </strong>KDM1A germline pathogenic variants are rare in PBMAH and account for less than 5% of index cases. KDM1A seems constantly associated with FDCS, which can be evoked in front of a morning/midnight plasma cortisol ratio below 0.65.</p>","PeriodicalId":11884,"journal":{"name":"European Journal of Endocrinology","volume":" ","pages":""},"PeriodicalIF":5.3,"publicationDate":"2025-02-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143373810","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Mild autonomous cortisol secretion in patients with aldosterone-producing adenoma and risk for cardiac remodeling and diastolic dysfunction.","authors":"Cheng-Hsuan Tsai, Che-Wei Liao, Xue-Ming Wu, Zheng-Wei Chen, Chien-Ting Pan, Yi-Yao Chang, Bo-Ching Lee, Chia-Hung Chou, Chin-Chen Chang, Vin-Cent Wu, Chi-Sheng Hung, Anand Vaidya, Yen-Hung Lin","doi":"10.1093/ejendo/lvaf007","DOIUrl":"10.1093/ejendo/lvaf007","url":null,"abstract":"<p><strong>Background: </strong>Mild autonomous cortisol secretion (MACS) is common in adrenal adenomas, including patients with primary aldosteronism (PA) with aldosterone-producing adenomas (APA). This study investigated the impact of MACS on cardiac remodeling and diastolic dysfunction in patients with APA.</p><p><strong>Methods: </strong>We prospectively enrolled 483 patients with APA. MACS was defined as a cortisol level >1.8 μg/dL after an overnight dexamethasone-suppression test (DST). Clinical, biochemical, and echocardiographic data were collected at baseline and one-year following targeted treatments.</p><p><strong>Results: </strong>In this prospective cohort, 21% of patients with APA had concurrent MACS. Patients with MACS were older, had a higher prevalence of diabetes, larger adrenal tumor size, higher left ventricular mass index (LVMI), and worse diastolic function (E/e'). Multivariable linear regression analysis showed that concurrent MACS with APA was an independent risk factor for higher LVMI and worse E/e'. Among patients who underwent adrenalectomy, both those with and without MACS showed significant improvements in LVMI and E/e'. In contrast, among patients who received mineralocorticoid receptor antagonist (MRA) treatment, significant LVMI improvement was only observed in patients without MACS. MRA therapy did not improve E/e' regardless of the presence or absence of MACS.</p><p><strong>Conclusions: </strong>The presence of MACS in patients with PA was associated with worse cardiac hypertrophy and diastolic dysfunction. Surgical adrenalectomy was able to effectively reverse cardiac remodeling in patients with PA and concurrent MACS; however, MRA therapy was not associated with significant improvements in cardiac function. These findings highlight the independent deleterious effects of cortisol on cardiovascular disease in PA.</p>","PeriodicalId":11884,"journal":{"name":"European Journal of Endocrinology","volume":" ","pages":"81-90"},"PeriodicalIF":5.3,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143002204","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Hormonal regulation of human adipose tissue lipolysis: impact of adipose GIP system in overweight and obesity.","authors":"Sebastian Brachs, Dominik Soll, Finja Beer, Nadine Huckauf, Anish Konkar, Joachim Spranger, Hartmut Rütten, Knut Mai","doi":"10.1093/ejendo/lvae151","DOIUrl":"https://doi.org/10.1093/ejendo/lvae151","url":null,"abstract":"<p><strong>Objective: </strong>Given the promising effects of GLP-1/GIP/glucagon receptor triagonists on weight loss in animals and humans, improved understanding of underlying mechanism is required. We investigated a direct lipolytic effect of a specific GLP-1/GIP/glucagon receptor triagonist on human adipose tissue to disentangle central and peripheral effects as potential drivers of weight loss.</p><p><strong>Design and methods: </strong>Isolated primary adipocytes from subcutaneous adipose tissue biopsies of 22 non-diabetic subjects [63.0 (57.0-69.5) years] were incubated with increasing concentrations of isoprenaline, GLP-1, GIP, glucagon, or a GLP-1/GIP/glucagon receptor triagonist. Glycerol concentration was measured following stimulation to assess lipolysis. mRNA expression of adipose tissue receptors was analyzed in parallel.</p><p><strong>Results: </strong>Glycerol concentration only increased by isoprenaline, GIP (+13%), and GLP-1/GIP/glucagon receptor triagonist (+28%) but not by GLP-1 or glucagon. This effect was not related to age or body mass index (BMI). Higher adipose tissue GIP receptor mRNA expression was related to elevated glycerol release after GIP and GLP-1/GIP/glucagon receptor triagonist stimulation.</p><p><strong>Conclusions: </strong>Direct lipolytic effects of GIP seem to exist in human subcutaneous adipose tissue. This might be targetable by multiple receptor agonists, especially with a high GIP receptor affinity. Such a mechanism can potentiate the beneficial effect on weight loss and will therefore represent a promising target of future research.</p><p><strong>Clinical trial registration number: </strong>The trial was registered at German Clinical Trials Register (drks.de) as DRKS00010049.</p>","PeriodicalId":11884,"journal":{"name":"European Journal of Endocrinology","volume":"192 2","pages":"91-99"},"PeriodicalIF":5.3,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143398813","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Optimizing diagnostic strategies for central adrenal insufficiency in pituitary disease.","authors":"Linus Haberbosch, Nina M T Meyer, Lara Lechner, Marie Jensen, Dominik Soll, Leonard Kozarzewski, Linus Hesse, Oliver Blankenstein, Vanessa Hubertus, Peter Vajkoczy, Christian J Strasburger, Joachim Spranger, Lukas Maurer, Knut Mai","doi":"10.1093/ejendo/lvaf002","DOIUrl":"https://doi.org/10.1093/ejendo/lvaf002","url":null,"abstract":"<p><strong>Objective: </strong>Central adrenal insufficiency (CAI) affects a significant number of patients with pituitary disease, and a missed diagnosis can be fatal. The optimal diagnostic algorithm, however, is still controversial. Here, we present a single-centre study with the systematic use of the overnight metyrapone test (OMT) and the short synacthen test (SST) in a large cohort of patients with pituitary disease.</p><p><strong>Methods: </strong>We conducted a retrospective analysis of 161 patients with pituitary disease or after pituitary surgery and suspected CAI. Data from OMT (n = 134), SST (n = 156), and long-term clinical outcomes (n = 97) were evaluated.</p><p><strong>Results: </strong>Validated in the sub-cohort with available clinical outcome evaluation after a mean of 2.7 years, 11-desoxycortisol (11-DOF, cut-off >200 nmol/L) in the OMT achieved a sensitivity of 100% and a specificity of 94%. Adrenocorticotropic hormone measurement offered no additional diagnostic benefit. Cortisol in the SST (cut-off >450 nmol/L after 30 min) showed an inferior sensitivity of 75.0% and a specificity of 80.2%. To assess the usefulness of the tests in pre-classified risk groups according to the recently proposed CAI-Score, we calculated CAI subgroup prevalence as well as positive/negative predictive value (NPV) for the SST in each risk group. In the low-risk group (CAI-Score = 0), the SST achieved a high NPV (0.99), while showing no clear benefit in the other groups.</p><p><strong>Conclusions: </strong>This study reaffirms the value of 11-DOF in the OMT as a reliable diagnostic tool for CAI, while confirming the limitations of the SST. These data indicate to consider SST as a single test procedure for low-risk patients.</p>","PeriodicalId":11884,"journal":{"name":"European Journal of Endocrinology","volume":"192 2","pages":"100-109"},"PeriodicalIF":5.3,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143406468","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"When selection becomes selection bias.","authors":"Kristina Laugesen, Olaf M Dekkers, Rolf H H Groenwold, Nils Skajaa","doi":"10.1093/ejendo/lvaf014","DOIUrl":"10.1093/ejendo/lvaf014","url":null,"abstract":"<p><p>Selection in clinical research does not necessarily result in selection bias. To understand when selection leads to bias, we discuss collider-conditioning bias, which is a common and often self-inflicted type of selection bias. Collider-conditioning bias may be difficult to recognize, and paying more attention to the bias could therefore increase the quality of research. In this paper, we aim to increase awareness and understanding of the topic.</p>","PeriodicalId":11884,"journal":{"name":"European Journal of Endocrinology","volume":" ","pages":"E1-E3"},"PeriodicalIF":5.3,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143074175","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Real-life experience on efficacy and safety of setmelanotide treatment in prepubertal children.","authors":"Ahmet Kahveci, Ilknur Kurt, Serap Turan, Tulay Guran, Abdullah Bereket, Belma Haliloglu","doi":"10.1093/ejendo/lvaf008","DOIUrl":"https://doi.org/10.1093/ejendo/lvaf008","url":null,"abstract":"<p><p>Monogenic obesity, characterized by severe, early-onset obesity due to single-gene defects, often resists traditional weight management strategies. This report presents real-life experiences on the efficacy and safety of setmelanotide, an MC4R agonist, in 4 prepubertal children (ages 3-9) with LEPR and POMC deficiencies. Findings indicate that setmelanotide is effective at lower doses in our patients with POMC deficiency (0.3-0.5 mg/day) than the patients with LEPR deficiency (2.5 mg/day). Treatment was generally well-tolerated, with injection site reactions and hyperpigmentation as common side effects. As novel findings, gonadotropin-related effects such as hypothalamo-pituitary-gonadal axis activation and testicular descent were observed in 2 patients. Growth deceleration was noted in 2 children, and recovery from central hypothyroidism in 1 patient with POMC deficiency. Overall, setmelanotide appears to be effective and well-tolerated in young children with monogenic obesity. However, further studies are necessary to evaluate the long-term effects of early intervention on growth and pubertal development.</p>","PeriodicalId":11884,"journal":{"name":"European Journal of Endocrinology","volume":"192 2","pages":"K15-K18"},"PeriodicalIF":5.3,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143074178","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Levothyroxine supplementation trials in preconception and pregnant women.","authors":"Rebecca Man, Rima Dhillon-Smith, Tim I M Korevaar","doi":"10.1093/ejendo/lvaf012","DOIUrl":"10.1093/ejendo/lvaf012","url":null,"abstract":"<p><p>Thyroid disorders are common in women of childbearing age, representing the second most prevalent endocrine disorder in this population. Low thyroid function preconception and during pregnancy has been associated with a range of adverse outcomes including subfertility, miscarriage, preterm birth, and ongoing health problems in the neonate. Levothyroxine (LT4) treatment is routinely used in women with overt hypothyroidism (OH) to achieve a euthyroid status and consequently reduce the risk of these adverse outcomes. However, in other groups, such as those with subclinical hypothyroidism (SCH) or thyroid autoimmunity, the evidence is less clear and subsequently guidelines differ in their recommendations. Here we explore key trials exploring the use of LT4 in different types of thyroid disorder, including OH, SCH, isolated hypothyroxinemia, and thyroid autoimmunity. We examine how these disorders are defined in different trials, the specifics of the populations included, and the varying timing and dosage of LT4. By exploring the limitations of these trials and the interactions between results, we highlight issues for future research and practical considerations for policy-makers and clinicians caring for women with low thyroid function during preconception and pregnancy.</p>","PeriodicalId":11884,"journal":{"name":"European Journal of Endocrinology","volume":" ","pages":"R7-R15"},"PeriodicalIF":5.3,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143406462","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}