Clinical Endocrinology最新文献

Despite a high burden of osteoporosis and minimal trauma fractures worldwide, there is still a treatment gap in timely diagnosis and optimal treatment. There is also a lack of international consensus and guidelines on the management of bone fragility in premenopausal women. This review article provides an overview of the current understanding of factors impacting women's bone health across the adult lifespan, as well as dilemmas in the diagnosis, assessment and management of osteoporosis in premenopausal and postmenopausal women, premature ovarian insufficiency and bone health following breast cancer.

Objectives: This study aimed to compare the clinical efficacy of dual-time ⁶⁸Ga-pentixafor PET/CT with adrenal vein sampling (AVS) in PA lateralization.

Methods and methods: We retrospectively analysed 161 patients with PA. We assessed the diagnostic performance of dual-time ⁶⁸Ga-pentixafor PET/CT in diagnosing unilateral primary aldosteronism (UPA) and aldosterone-producing adenoma (APA). We also explored the relationship between ⁶⁸Ga-pentixafor PET/CT findings, postoperative outcomes, and the presence of the KCNJ5 gene mutation.

Results: The diagnostic accuracy of ⁶⁸Ga-pentixafor PET at 10 and 40 min for UPA (75.2% and 76.4%, respectively) surpassed that of CT (55.3%, p < 0.01). The optimal cutoff for diagnosing APA was 10 min lesion-to-normal adrenal ratio = 1.95, yielding an AUC of 91.9%, with sensitivity, specificity, and accuracy of 76.0%, 91.3%, and 83.3%, respectively. This high diagnostic efficacy extended to subgroups with nodules ≥ 1 or < 1 cm, and the largest AUC of ⁶⁸Ga-pentixafor PET/CT for diagnosis APA with lesions ≥ 1 and < 1 cm is 88.2% and 97.0%, respectively. The lateralization results provided by ⁶⁸Ga-pentixafor PET/CT corroborated the surgical treatment decision in 92.0% of PA patients, and more than 95% achieved clinical and/or biochemical cure or improvement. The PET positive rate of KCNJ5 mutation was higher than that of KCNJ5 wild-type, with optimal diagnostic efficacy at 40 min lesion-to-liver ratio = 4.79 (AUC 81.3%, sensitivity 90.0%, specificity 66.7%).

Conclusion: Dual-time ⁶⁸Ga-pentixafor PET/CT exhibits robust diagnostic efficacy in PA lateralization. Furthermore, ⁶⁸Ga-pentixafor PET/CT holds promise as an imaging marker for predicting the presence of the KCNJ5 mutation in PA patients.

Background: Neck ultrasound (US) and serum thyroglobulin (Tg) measurements are mainstays of long-term differentiated thyroid cancer (DTC) surveillance. Given the high sensitivity of serum Tg, we aimed to assess the utility of neck US in DTC patients who underwent total thyroidectomy and have undetectable serum Tg.

Methods: We performed a retrospective cohort analysis of DTC patients who underwent a total thyroidectomy at our institution (2010-2023) and received US-guided fine needle aspiration (FNA) during their surveillance. Patients were categorised into three lab categories based on serum Tg and Tg antibody (Tg Ab) status before the biopsy: (1) 'Negative Tg' if undetectable Tg ( < 0.2 ng/dL) and Tg Ab, (2) 'Positive Tg' if detectable Tg and undetectable Tg Ab, and (3) 'Positive Tg Ab' if detectable Tg Ab. To calculate the positive predictive value (PPV) of neck US, we defined the 'true positive' of US as findings that prompted an FNA biopsy resulting with DTC, and 'false positive' findings prompting an FNA biopsy that did not result as DTC.

Results: A total of 118 patients were included, encompassing 146 FNA biopsies: 33 (23%) had Negative Tg, 84 (57%) had Positive Tg, and 29 (20%) had Positive Tg Ab lab results before their biopsies. The PPV of neck US in the setting of Negative Tg was 3% (one true positive, 32 false positives), while the PPV was 50% (42 true positives, 42 false positives) for Positive Tg, and 52% (15 true positives, 14 false positives) for Positive Tg Ab cohorts. Sub-analysis of the Positive Tg cohort using different serum Tg level cutoffs revealed a PPV of 29% at just detectable serum Tg of 0.2 ng/dL, and PPV of 38% for Tg < 1.0 ng/dL. The PPV stabilised at 58% for Tg levels ≥ 1 ng/dL.

Conclusion: With the low PPV of neck US, high cost of surveillance, and the advent of ultra-sensitive serum Tg measurements, future guidelines should consider reducing routine neck US surveillance in patients with undetectable serum Tg and only performing it when there is a rise in serum Tg levels.

Objectives: The relationship between iodine status and gestational diabetes mellitus (GDM) is inconclusive. This study aimed to explore the trajectories of urinary iodine concentrations (UIC) in pregnant women before GDM diagnosis and to assess the associations between maternal UIC trajectories and the risk of developing GDM.

Methods: A prospective cohort study was conducted in China. Data from 1076 pregnant women who were recruited between August 2019 and December 2021 were analyzed. GDM screening was performed at the 28th week of pregnancy. Arsenic and cerium catalysis spectrophotometry was used to measure UIC. The latent class model was used to identify distinct UIC trajectories in pregnant women, using multiple urine specimens. We evaluated the association of UIC trajectories with the risk of GDM by logistic regression analysis.

Results: Three maternal UIC trajectories were identified: (1) high-stable trajectory (72.12%), (2) high-decreasing trajectory (3.07%), and (3) low-stable trajectory (24.81%). Compared with the pregnant women in high-stable trajectory group, women in the low-stable UIC trajectory group showed an increased risk of GDM before adjustment of covariates (OR: 1.58, 95% CI: 1.08-2.27). After adjusting for different covariates, a statistically significant association was observed only between low-stable trajectory trajectories and GDM.

Conclusions: This study highlights a relationship between UIC and the risk of GDM. To better prevent iodine deficiency and GDM, persistent sufficient iodine status from pregnancy to delivery, should be emphasized.

Objective: Transition is important for continuity of care for patients with chronic health conditions. The aim of this service evaluation was to determine the effectiveness of a transition clinic at a tertiary hospital with long-term attendance in the adult endocrine service.

Design: Retrospective case notes review of patients seen by paediatric endocrinology at the Royal Hospital for Children, Glasgow, at the time of transition to adult services, between 2012 and 2022. Patients with type 1 diabetes were excluded.

Measurements: Engagement was measured through clinic attendance and dropout rate. The 'dropped out patients' were those who were seen in the transition clinic with a transition plan but did not attend appointments in the adult service.

Results: Of the 267 individuals offered a transition clinic, data on discharge status were available for 248 (94%). Of these, 52% (n = 129) remained in the same tertiary centre, 29% (n = 61) were transferred to other endocrine centres in the West of Scotland; 17% (n = 42) were discharged to primary care. Overall, 91% (172/190) of young patients remained engaged with the adult service. Male patients had a higher drop out rate compared to females (14% vs. 4%, p < 0.05). Those from more deprived areas also had higher drop out rates compared to those from more affluent areas (17% vs. 3%, p < 0.05).

Conclusion: Our clinic model for transitioning from paediatric to adult endocrine care is effective in introducing and retaining patients to the adult service with only a 9% drop out rate. Factors associated with poor attendance in adult services include deprivation and being male. Additional support may be required for these individuals to improve engagement in adult services.

Objective: The risk of aortic dissection is increased in Turner Syndrome (TS). Aortic dilation is thought to contribute to this risk and may be managed with elective aortic surgery. New TS guidance has lowered the aortic size thresholds for consideration of aortic surgery. We investigated the impact of new guidance on potential heart team referrals in a UK cohort of TS individuals.

Methods: A cross-sectional study of 156 individuals with TS was performed. Up to date transthoracic echocardiography or cardiac MRI derived aortic dimensions, anthropometric data and the presence of aortic dissection risk factors were analysed.

Results: Twenty-one individuals (13%) met updated guideline criteria for consideration of aortic surgery, 15 more than met 2016 TS guideline criteria. Use of aortic size index (ASI) and aortic height index (AHI) together identified additional individuals meeting criteria for surgical consideration compared with the use of ASI or AHI alone. Z-score identified no additional individuals for surgical consideration, nor did it reclassify any individuals into moderate or severe aortic dilation groups. Twelve of 13 individuals with moderate aortic dilation met criteria for surgical consideration due to the presence of additional risk factors for aortic dissection. There was no positive correlation between height or body surface area and ascending aorta diameter in this cohort.

Conclusions: New TS guidelines are likely to significantly increase the number of individuals with TS who might be considered for elective aortic surgery. Centres caring for individuals with TS should re-evaluate their TS cohorts for aortic dissection risk considering these new guidelines.

Background: Klinefelter syndrome (KS) is an uncommonly recognised condition typified by gynaecomastia, small testes and aspermatogenesis. It is caused by a supernumerary X chromosome, resulting in a 47 XXY karyotype. Since its first description, the phenotype of KS has evolved and there is a much greater appreciation of the subtle features of the condition.

Method: In this review, we explore the phenotype of the KS with particular consideration to patients with pre-natal and early infancy diagnosis, given that this is becoming increasingly common. The current understanding of the genetic mechanisms of KS, caused by supernumerary X chromosome are explored and the genotype-phenotype correlation are discussed.

Results: The implications of the condition both in childhood and later development are explored in detail, with particular focus on social and educational implications. Potential treatments, with emphasis on preservation of fertility are discussed. We highlight the optimal therapeutic conditions in which fertility preservation is most likely to be achieved, compared to those which can be more challenging. Finally, we discuss the other health challenges which can be associated with KS. These include poor bone health, diabetes, cardiovascular complications, and malignancy. The challenges in managing these co-morbid conditions and most up-to-date management recommendations are also explored.

Objectives: The ideal model of care for individuals with Differences of Sex Development (DSD) continues to evolve, with multiple models proposed. This study aimed to explore current care models for individuals with DSD in Australia and New Zealand (NZ) and to identify clinician perceptions of gaps and barriers in current practice.

Methods: Cross-sectional anonymous online questionnaire, conducted via Research Electronic Data Capture (REDCap) software. Clinicians involved in the diagnosis and management of individuals with DSD in Australia and NZ were contacted through multimodal recruitment approaches. Themes included demographics of respondents, preferred terminology, composition of the DSD multidisciplinary team (MDT) and availability of a database.

Results: Seventy-nine eligible participants from centers in all states and territories of Australia and NZ commenced the survey with 63 complete responses. Almost One-third (31%) of participants are not currently part of a DSD MDT meeting at their center. While three quarters (76%) of respondents identified changes to DSD care over the past 5 years, three quarters (75%) also identified barriers to current care provision. Only 20% of respondents reported psychology being a current part of their MDT and 70% identified psychology as a desired but missing part of their team.

Conclusions: Responses to the survey identify gaps and barriers to DSD care across Australia and NZ, particularly a lack of psychosocial supports. Current models fall short of international recommendations and services need to explore the reasons for these gaps further.