Clinical Endocrinology最新文献

{"title":"The diagnostic performance of copeptin in clinical practice: A prospective study","authors":"Penelope Trimpou,&nbsp;Ioannis Bounias,&nbsp;Olof Ehn,&nbsp;Ola Hammarsten,&nbsp;Oskar Ragnarsson","doi":"10.1111/cen.15018","DOIUrl":"10.1111/cen.15018","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>Plasma copeptin is a relatively new biomarker for evaluation of arginine vasopressin (AVP) secretion. The aim of this study was to test the diagnostic performance of copeptin in patients with polyuria-polydipsia syndrome.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Design, Patients and Measurements</h3>\u0000 \u0000 <p>This was a prospective study where 88 patients with polyuria-polydipsia syndrome were evaluated with a water deprivation test (WDT). Weight, urine osmolality, urine specific gravity, and plasma copeptin were collected at baseline, after 8 h, and at termination of the WDT when one of the following had been reached: (i) &gt;3% weight reduction, (ii) urine specific gravity &gt;1.017 or urine osmolality &gt;600 mOsm/kg, or (iii) intolerable adverse symptoms.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Of 88 patients (57 women), 21 (24%) were diagnosed with central diabetes insipidus (cDI), 5 (6%) with nephrogenic DI (nDI), and 62 (71%) with primary polydipsia (PP). Median (interquartile range) copeptin at baseline was 1.7 (1.4–2.5) pmol/L in cDI, 22 (18–65) pmol/L in nDI, and 2.7 (2–4) pmol/L in PP. After 8 h of WDT, the highest copeptin in patients with cDI was 4.0 pmol/L. In patients with PP: (i) 41 had urine osmolality &lt;600 mOsm/kg, 7 (17%) of these had copeptin &gt;4.0 pmol/L, (ii) 21 had urine osmolality ≥600 mOsm/kg, 14 (67%) of these had copeptin &gt;4.0 pmol/L.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Copeptin &gt;4.0 pmol/L after an overnight WDT can be used to rule out cDI and copeptin ≥21 pmol/L at baseline to diagnose nDI. The diagnostic performance of copeptin in the context of the WDT is otherwise limited in the diagnostic work-up of patients with polyuria-polydipsia syndrome.</p>\u0000 </section>\u0000 </div>","PeriodicalId":10346,"journal":{"name":"Clinical Endocrinology","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/cen.15018","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139641671","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Gonadal tumour screening in XY gonadal dysgenesis","authors":"Bruna Barbar,&nbsp;Neomal De Silva,&nbsp;Timothy Cheetham,&nbsp;Claire Wood,&nbsp;Richard Quinton","doi":"10.1111/cen.15015","DOIUrl":"10.1111/cen.15015","url":null,"abstract":"<p>We read with great interest the recent paper by Hannema et al.<span>¹</span> that we found particularly illuminating in respect of our patient with 46XY gonadal dysgenesis, who continues to decline prophylactic gonadectomy.</p><p>Disorders of sex development (DSD) are a group of rare disorders involving abnormalities in karyotype, steroidogenesis, androgen action or gonadal development, resulting in various phenotypic presentations.<span>²</span> Among the genetic determinants of sex development, the <i>SRY</i> (sex-determining region of the Y chromosome) gene initiates development of the male urogenital primordia.<span>^{2, 3}</span> Loss-of-function variants result in congenital abnormalities of male-typical development.</p><p>Swyer syndrome or 46, XY gonadal dysgenesis (46XY GD) presents with female external genitalia and absent puberty due to gonadal insufficiency (hypergonadotrophic hypogonadism). Amidst the potential genetic culprits, variants of the <i>SRY</i> gene account for up to 15% of cases, as specific encoded proteins (i.e.: sex-determining region Y protein HMG-box) bind to regions of deoxyribonucleic acid (DNA) that control male-typical development. Other associated gene loci include <i>MAP3K1, DHH, NR5A1</i> and <i>SOX9</i>.<span>³</span> With no male differentiation stimulus to the urogenital ridge, Sertoli and Leydig cells do not arise within the primitive gonad, resulting in deficiencies of Anti-Müllerian hormone (AMH) and testosterone, respectively. Hence, the development of Mullerian structures and the absence of external male sexual differentiation (Figure 1).</p><p>A 17-year-old female was referred with primary amenorrhoea and absent puberty. Her past medical and family history was insignificant. She had not progressed into puberty (Tanner stage 1) and had normal female external genitalia. Biochemical evaluation revealed hypergonadotrophic hypogonadism (LH—33.7 IU/L, FSH—105.8 IU/L, Oestradiol &lt;60 pmol/L), undetectable Sertoli cell markers and no elevation of tumour markers (AMH &lt; 0.5 pmol/L, Inhibin B &lt; 9.8 ng/L, alpha fetoprotein (AFP) &lt; 1.0 kU/L, carcinoembryonic antigen (CEA) &lt; 1.0 μg/L). Karyotype was 46 XY, indicating gonadal dysgenesis. Magnetic resonance imaging (MRI) scan showed a tiny anteverted uterus (2.9 × 0.6 × 2.0 cm), but no gonads were visualized. The diagnosis had a significant psychological impact on the patient, for which she was signposted to support groups for peer support. She was also referred to clinical psychology through her general practitioner.</p><p>She was then started on transdermal Estradiol at a dose of 6.25 μg twice weekly, gradually up-titrated to achieve normal breast (Tanner 4) and sonographic uterine development, after which she was converted to continuous-combined hormone replacement therapy (currently Estradiol 4 mg plus Norethisterone 1.05 mg daily). Laparoscopic exploration and gonadectomy were also recommended considering ","PeriodicalId":10346,"journal":{"name":"Clinical Endocrinology","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-01-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/cen.15015","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139570132","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Plasma steroid concentrations reflect acute disease severity and normalise during recovery in people hospitalised with COVID-19","authors":"Kerri Devine,&nbsp;Clark D. Russell,&nbsp;Giovanny R. Blanco,&nbsp;Brian R. Walker,&nbsp;Natalie Z. M. Homer,&nbsp;Scott G. Denham,&nbsp;Joanna P. Simpson,&nbsp;Olivia C. Leavy,&nbsp;Omer Elneima,&nbsp;Hamish J. C. McAuley,&nbsp;Aarti Shikotra,&nbsp;Amisha Singapuri,&nbsp;Marco Sereno,&nbsp;Ruth M. Saunders,&nbsp;Victoria C. Harris,&nbsp;Linzy Houchen-Wolloff,&nbsp;Neil J. Greening,&nbsp;Nazir I. Lone,&nbsp;Mathew Thorpe,&nbsp;William Greenhalf,&nbsp;James D. Chalmers,&nbsp;Ling-Pei Ho,&nbsp;Alex Horsley,&nbsp;Michael Marks,&nbsp;Betty Raman,&nbsp;Shona C. Moore,&nbsp;Jake Dunning,&nbsp;Malcolm G. Semple,&nbsp;Ruth Andrew,&nbsp;Louise V. Wain,&nbsp;Rachael A. Evans,&nbsp;Christopher E. Brightling,&nbsp;John Kenneth Baillie,&nbsp;Rebecca M. Reynolds,&nbsp;The ISARIC4C Investigators and PHOSP-COVID Study Collaborative Group","doi":"10.1111/cen.15012","DOIUrl":"10.1111/cen.15012","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>Endocrine systems are disrupted in acute illness, and symptoms reported following coronavirus disease 2019 (COVID-19) are similar to those found with clinical hormone deficiencies. We hypothesised that people with severe acute COVID-19 and with post-COVID symptoms have glucocorticoid and sex hormone deficiencies.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Design/Patients</h3>\u0000 \u0000 <p>Samples were obtained for analysis from two UK multicentre cohorts during hospitalisation with COVID-19 (<i>International Severe Acute Respiratory Infection Consortium/World Health Organisation [WHO] Clinical Characterization Protocol for Severe Emerging Infections in the UK study</i>), and at follow-up 5 months after hospitalisation (<i>Post-hospitalisation COVID-19 study</i>).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Measurements</h3>\u0000 \u0000 <p>Plasma steroids were quantified by liquid chromatography–mass spectrometry. Steroid concentrations were compared against disease severity (WHO ordinal scale) and validated symptom scores. Data are presented as geometric mean (SD).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>In the acute cohort (<i>n</i> = 239, 66.5% male), plasma cortisol concentration increased with disease severity (cortisol 753.3 [1.6] vs. 429.2 [1.7] nmol/L in fatal vs. least severe, <i>p</i> &lt; .001). In males, testosterone concentrations decreased with severity (testosterone 1.2 [2.2] vs. 6.9 [1.9] nmol/L in fatal vs. least severe, <i>p</i> &lt; .001). In the follow-up cohort (<i>n</i> = 198, 62.1% male, 68.9% ongoing symptoms, 165 [121–192] days postdischarge), plasma cortisol concentrations (275.6 [1.5] nmol/L) did not differ with in-hospital severity, perception of recovery, or patient-reported symptoms. Male testosterone concentrations (12.6 [1.5] nmol/L) were not related to in-hospital severity, perception of recovery or symptom scores.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Circulating glucocorticoids in patients hospitalised with COVID-19 reflect acute illness, with a marked rise in cortisol and fall in male testosterone. These findings are not observed 5 months from discharge. The lack of association between hormone concentrations and common post-COVID symptoms suggests steroid insufficiency does not play a causal role in this condition.</p>\u0000 </section>\u0000 </div>","PeriodicalId":10346,"journal":{"name":"Clinical Endocrinology","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-01-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/cen.15012","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139478247","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Point-of-care ultrasound is a useful adjunct tool to a clinician's assessment in the evaluation of severe hyponatraemia","authors":"Latif R. Rahman,&nbsp;Eka Melson,&nbsp;Salam Al Alousi,&nbsp;Muhammad Sardar,&nbsp;Miles J. Levy,&nbsp;Shahriar Shafiq,&nbsp;Faizanur Rahman,&nbsp;Tim Coats,&nbsp;Narendra L. Reddy","doi":"10.1111/cen.15024","DOIUrl":"10.1111/cen.15024","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Introduction</h3>\u0000 \u0000 <p>Hyponatraemia is the most common electrolyte disorder in inpatients resulting mainly from an imbalance in water homeostasis. Intravascular fluid status assessment is pivotal but is often challenging given multimorbidity, polypharmacy and diuretics use. We evaluated the utility of point-of-care ultrasound (POCUS) as an adjunct tool to standard practice for fluid assessment in severe hyponatraemia patients.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Patients presenting with severe hyponatremia (Serum Sodium [Na] &lt; 120 mmol/L; Normal range: 135−145 mol/L), managed by standard care were included. Hyponatraemia biochemistry work-up and POCUS examination were undertaken. Both clinician and POCUS independently assigned one of the three fluid status groups of hypovolaemia, hypervolaemia or euvolaemia. The final diagnosis of three fluid status groups at admission was made at the time of discharge by retrospective case review. Clinician's (standard of care) and POCUS fluid assessments were compared to that of the final diagnosis at the time of discharge.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p><i>n</i> = 19 patients were included. Median Na on admission was 113 mmol/L (109-116), improved to 129 ± 3 mmol/L on discharge. POCUS showed the higher degree of agreement with the final diagnosis (84%; <i>n</i> = 16/19), followed by the clinician (63%; <i>n</i> = 12/19). A trend towards higher accuracy of POCUS compared to clinician assessment of fluid status was noted (84% vs. 63%, <i>p</i> = 0.1611). Biochemistry was unreliable in 58% (<i>n</i> = 11/19) likely due to renal failure, polypharmacy or diuretic use. Inappropriate emergency fluid management was undertaken in 37% (<i>n</i> = 7/19) of cases based on initial clinician assessment. Thirst symptom correlated to hypovolaemia in 80% (4/5) cases.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>As subjective clinical and biochemistry assessments of fluid status are often unreliable due to co-morbidities and concurrent use of medications, POCUS can be a rapid objective diagnostic tool to assess fluid status in patients with severe hyponatraemia, to guide accurate emergency fluid management.</p>\u0000 </section>\u0000 </div>","PeriodicalId":10346,"journal":{"name":"Clinical Endocrinology","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/cen.15024","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139472079","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Insulin sensitisation for polycystic ovary syndrome: High-dose monotherapy versus low-dose combination","authors":"Francis de Zegher,&nbsp;Lourdes Ibáñez","doi":"10.1111/cen.15021","DOIUrl":"10.1111/cen.15021","url":null,"abstract":"","PeriodicalId":10346,"journal":{"name":"Clinical Endocrinology","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139472073","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"An unusual phenocopy for postmenopausal ovarian hyperandrogenism: LH-driven testosterone secretion by adrenal adenoma expressing luteinising hormone-chorionic gonadotrophin receptor","authors":"Mudassir Ali,&nbsp;Ashutosh Rai,&nbsp;Sophie Howarth,&nbsp;Asgar Madathil,&nbsp;Tom Rice,&nbsp;Christopher Boot,&nbsp;Richard Quinton,&nbsp;Márta Korbonits,&nbsp;Yaasir H. Mamoojee","doi":"10.1111/cen.15019","DOIUrl":"10.1111/cen.15019","url":null,"abstract":"","PeriodicalId":10346,"journal":{"name":"Clinical Endocrinology","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139472065","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Assessment of plasma dexamethasone levels after 1-mg dexamethasone suppression test in adults with obesity","authors":"Pimonrat Paopongpaiboon,&nbsp;Prangareeya Santisitthanon,&nbsp;Natnicha Houngngam,&nbsp;Thiti Snabboon,&nbsp;Patchaya Boonchaya-anant","doi":"10.1111/cen.15020","DOIUrl":"10.1111/cen.15020","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>The 1-mg overnight dexamethasone suppression test is the most frequently used screening test for Cushing's syndrome. It has been proposed that people with obesity may have insufficient plasma dexamethasone levels for the test which may result in false positives. We sought to compare the plasma dexamethasone levels after 1-mg dexamethasone suppression test in healthy obese participants and in optimal-weight participants.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>A total of 30 optimal-weight participants (BMI ≤ 25 kg/m²) and 62 obese participants (BMI &gt; 25 kg/m²) were enroled in the study. Obese participants were further divided into class 1 (25–29.9 kg/m²) and class 2 (&gt;30 kg/m²). After a standard overnight 1-mg dexamethasone suppression test, blood samples were obtained for serum cortisol and plasma dexamethasone levels. Plasma dexamethasone levels were quantified using liquid chromatography - mass spectrometry (LC-MS/MS).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>No significant difference in plasma dexamethasone levels were found between obese and optimal-weight participants (3.31 ± 1.35 vs. 2.82 ± 1.11 nmol/L, mean ± SD; <i>p</i> = .09 respectively). There were also no correlations found between sex, BMI, body surface area and plasma dexamethasone levels. There was also no significant difference in the proportion of participants who achieved a plasma dexamethasone level &gt;3.3 nmol/L in comparison between obesity class 1, obesity class 2, and optimal-weight groups.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Our results suggest that obesity does not affect plasma dexamethasone levels. However, dexamethasone measurement may still be helpful in patients who are being investigated for Cushing's syndrome and suspected to have a false-positive DST.</p>\u0000 </section>\u0000 </div>","PeriodicalId":10346,"journal":{"name":"Clinical Endocrinology","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139472068","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Characteristics of bone mineral density in patients with functional hypothalamic amenorrhoea and its association with reproductive hormones and body composition","authors":"Ye Lu,&nbsp;Ping Lu,&nbsp;Lixian Lin,&nbsp;Hang Chen,&nbsp;Feifei Zhang,&nbsp;Xin Li","doi":"10.1111/cen.15016","DOIUrl":"10.1111/cen.15016","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>Bone mineral density (BMD) is typically reduced in patients with female athlete triad (FAT) and anorexia nervosa (AN). However, bone health in most patients with functional hypothalamic amenorrhoea (FHA), who may not suffer from severe energy deficiency, has not received adequate attention in clinical practice. This study aimed to investigate BMD and its association with clinical and endocrine features in individuals with FHA and to provide clinical evidence for improving bone loss and preventing osteoporosis in FHA.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Design</h3>\u0000 \u0000 <p>To assess the bone status of patients with FHA and investigate its association with various clinical and endocrinological characteristics.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Patients</h3>\u0000 \u0000 <p>We retrospectively analysed 80 patients with FHA who attended the Obstetrics and Gynecology Hospital of Fudan University from January 2022 to March 2023.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Measurements</h3>\u0000 \u0000 <p>The levels of reproductive hormones, including luteinising hormone (LH), follicle-stimulating hormone, oestradiol (E₂) and total testosterone (TT), were examined at the time of initial diagnosis, and a body composition analyser was used to measure body fat percentage (BF%), lean body mass (LBM) and segmental muscle/fat. Dual-emission X-ray absorptiometry was used to measure lumbar spine BMD and femoral neck BMD in patients with FHA, and the <i>Z</i> score was calculated.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The study cohort consisted of 80 female patients with FHA. The average age of the patients was 24.64 ± 6.02 years, and their body mass index (BMI) was 19.47 ± 2.86 kg/m². The duration of weight loss was 12 (6, 24) months, while the duration of oligo/amenorrhoea was 12 (4.5, 24) months. The mean degree of weight loss was 18.39 ± 9.53%. Low BMD were present in 15% of patients with FHA at the lumbar spine and/or femoral neck; 12.5% and 10% had low bone mass at the lumbar spine and femoral neck, respectively. The low bone mass group experienced a longer period of weight loss than the normal group [24 (16.5, 60) vs. 12 (4.5, 24) months, <i>p</i> = .037]. In addition, the abnormal group had a lower BMR (basal metabolic rate, BMR) [1158 ± 85 vs. 1231 ± 91 kcal/day, <i>p</i> = .011] and lower bone mineral content [2.15 ± 0.26 vs. 2.43 ± 0.31 kg, <i>p</i> = .009] than the normal group. Both LBMD and femoral neck BMD (Fn BMD) were positively correlated with BMI, BF%, LBM, and regional muscle/fat mass (all <i>p</i> &lt; .05). There was also a positiv","PeriodicalId":10346,"journal":{"name":"Clinical Endocrinology","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139478236","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The causal relationship between autoimmune thyroid disorders and telomere length: A Mendelian randomization and colocalization study","authors":"Xue Liu,&nbsp;Jie Yuan,&nbsp;Shuai Liu,&nbsp;Xinhui Wang,&nbsp;Mulin Tang,&nbsp;Xue Meng,&nbsp;Yuchen Li,&nbsp;Yuwei Chai,&nbsp;Yuyao Wang,&nbsp;Guoyu Tian,&nbsp;Xueying Liu,&nbsp;Huizhi Zhou,&nbsp;Chunjia Kou,&nbsp;Li Zhang,&nbsp;Zhongshang Yuan,&nbsp;Haiqing Zhang","doi":"10.1111/cen.15004","DOIUrl":"10.1111/cen.15004","url":null,"abstract":"<p>This study aimed to evaluate whether there is a causal relationship between autoimmune thyroid disorders (AITDs) and telomere length (TL) in the European population and whether there is reverse causality. In this study, Mendelian randomization (MR) and colocalization analysis were conducted to assess the potential causal relationship between AITDs and TL using summary statistics from large-scale genome-wide association studies, followed by analysis of the relationship between TL and thyroid stimulating hormone and free thyroxine (FT4) to help interpret the findings. The inverse variance weighted (IVW) method was used to estimate the causal estimates. The weighted median, MR‒Egger and leave-one-out methods were used as sensitivity analyses. The IVW method results showed a significant causal relationship between autoimmune hyperthyroidism and TL (<i>β</i> = −1.93 × 10⁻²; <i>p</i> = 4.54 × 10⁻⁵). There was no causal relationship between autoimmune hypothyroidism and TL (<i>β</i> = −3.99 × 10⁻³; <i>p</i> = 0.324). The results of the reverse MR analysis showed that genetically TL had a significant causal relationship on autoimmune hyperthyroidism (IVW: odds ratio (OR) = 0.49; <i>p</i> = 2.83 × 10⁻⁴) and autoimmune hypothyroidism (IVW: OR = 0.86; <i>p</i> = 7.46 × 10⁻³). Both horizontal pleiotropy and heterogeneity tests indicated the validity of our bidirectional MR study. Finally, colocalization analysis suggested that there were shared causal variants between autoimmune hyperthyroidism and TL, further highlighting the robustness of the results. In conclusion, autoimmune hyperthyroidism may accelerate telomere attrition, and telomere attrition is a causal factor for AITDs.</p>","PeriodicalId":10346,"journal":{"name":"Clinical Endocrinology","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-01-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139424324","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Risk assessment for aortic dissection in Turner syndrome: The role of the aortic growth rate","authors":"Matilde Calanchini,&nbsp;James Bradley-Watson,&nbsp;Fiona McMillan,&nbsp;Saul Myerson,&nbsp;Andrea Fabbri,&nbsp;Helen E. Turner,&nbsp;Elizabeth Orchard","doi":"10.1111/cen.15017","DOIUrl":"10.1111/cen.15017","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>The risk of aortic dissection (AoD) is increased in Turner syndrome (TS) but predicting those at risk is difficult. Based on scarce evidence, preventive aortic surgery is recommended when aortic diameter increases &gt;5 mm/year. To investigate the aortic growth rate in TS and TS-related conditions associated with aortic growth. We also reported our experience of women who suffered aortic dissection (AoD), and who had preventive aortic replacement.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>151 adult TS were retrospectively identified. Women who had more than one transthoracic echocardiogram (TTE) after age 16 years were included in the aortic growth study. Aortic diameters at sinuses of Valsalva (SoV) and ascending aorta (AA) were analysed by two experts.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>70/151 women had more than one TTE (interscan interval 4.7 years). Mean aortic growth was 0.13 ± 0.59 mm/year at SoV and 0.23 ± 0.82 mm/year at AA. Known risk factors for aortic dilatation and TS-related conditions were not associated with aortic growth. 4/151 women experienced AoD (age 25±8 years): two had paired scans for aortic growth, which was 0.67 mm/year at both SoV and AA in the first woman, and 11 mm/year (SoV) and 4 mm/year (AA) in the second. Only 1/4 of women with AoD survived; she used a TS cardiac-alert card to inform emergency personnel about her risk of AoD. 5/151 had a preventive aortic replacement, but one died post-operatively.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Mean aortic growth in our TS population was increased compared to non-TS women and was not associated with currently known risk factors for AoD, suggesting that aortic growth rate itself could be a useful variable to stratify who is at risk for AoD.</p>\u0000 </section>\u0000 </div>","PeriodicalId":10346,"journal":{"name":"Clinical Endocrinology","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-01-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139424323","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}