Clinical Endocrinology最新文献

Is It Possible to Screen for Primary Aldosteronism Effectively in Primary Care?

IF 3 3区医学

Clinical Endocrinology Pub Date : 2025-04-07 DOI: 10.1111/cen.15247

Harsha Anuruddhika Dissanayake, Bronwen Warner, Anne-Marie Hannon, Riccardo Pofi, Radu Mihai, Tim James, Brian Shine, David William Ray, Jeremy W Tomlinson, Aparna Pal

{"title":"Is It Possible to Screen for Primary Aldosteronism Effectively in Primary Care?","authors":"Harsha Anuruddhika Dissanayake, Bronwen Warner, Anne-Marie Hannon, Riccardo Pofi, Radu Mihai, Tim James, Brian Shine, David William Ray, Jeremy W Tomlinson, Aparna Pal","doi":"10.1111/cen.15247","DOIUrl":"https://doi.org/10.1111/cen.15247","url":null,"abstract":"Objective: Primary aldosteronism (PA) is the commonest secondary cause of hypertension but case-detection remains a challenge. Screening is usually performed in secondary care using an aldosterone:renin ratio (ARR) measurement. Here, we describe the outcomes of screening in primary care, in Oxfordshire, UK.Design: Retrospective observational study.Patients: Adults screened for PA in primary care services in Oxford between 2008 and 2022.Measurements: ARR test results in primary care and outcomes of secondary care evaluation (ARR, saline infusion test, final diagnosis). Primary care and secondary care ARR tests were compared for correlation, concordance and performance in predicting PA.Results: Among 2915 adults screened in primary care, 455 were referred to secondary care and 107 (3.7% of total population screened) were diagnosed with PA. Primary care ARR showed strong correlation with secondary care ARR (r = 0.841, p < 0.001). Area under the ROC curve to predict PA was 0.81 (95% CI 0.77-0.86) for primary care ARR testing. Primary care ARR cut-off of ≥ 30 pmol/mU showed comparable sensitivity (91.7% vs 92.1%, p = 0.467) to and modest concordance (Kappa 0.583, p < 0.001) with secondary care ARR. Use of beta-blockers were associated with higher risk of false positive test result (OR 3.5, 95% CI 1.1-12.0, p = 0.042).Conclusions: Screening for PA in primary care with ARR is feasible with modest concordance and comparable sensitivity to secondary care testing. Simple referral criteria and raising awareness among primary care colleagues could ensure appropriate referral to secondary care.","PeriodicalId":10346,"journal":{"name":"Clinical Endocrinology","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-04-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143802758","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}

引用次数: 0

Determination of Androgen Bioactivity by an In Vitro Assay During Pubertal Transition in Healthy Boys.

IF 3 3区医学

Clinical Endocrinology Pub Date : 2025-04-04 DOI: 10.1111/cen.15249

Andrés Felipe Ø Fritzbøger, Lise Aksglaede, Trine Holm Johannsen, Dirk Vanderschueren, Leen Antonio, Frank Claessens, Katrine Harpelunde Poulsen, Anne Jørgensen, Jørgen Holm Petersen, Anna-Maria Andersson, Anders Juul

{"title":"Determination of Androgen Bioactivity by an In Vitro Assay During Pubertal Transition in Healthy Boys.","authors":"Andrés Felipe Ø Fritzbøger, Lise Aksglaede, Trine Holm Johannsen, Dirk Vanderschueren, Leen Antonio, Frank Claessens, Katrine Harpelunde Poulsen, Anne Jørgensen, Jørgen Holm Petersen, Anna-Maria Andersson, Anders Juul","doi":"10.1111/cen.15249","DOIUrl":"https://doi.org/10.1111/cen.15249","url":null,"abstract":"Objective: To describe the bioactivity of circulating androgens during pubertal transition as determined by an in vitro bioassay assessing androgen receptor (AR) activation, and to compare these findings with circulating concentrations of total testosterone (total T) measured by LC-MS/MS.Methods: This longitudinal study included ten healthy boys from the Copenhagen Puberty Study II conducted from 2006 to 2011.Main outcome measure(s): Androgen bioactivity and serum concentrations of total T were measured by an in vitro bioassay and LC-MS/MS with limits of detection of 0.3 and 0.01 nmol/L, respectively. The serum concentration of free testosterone (free T) was calculated using the Vermeulen equation. Pubertal onset was defined as testicular enlargement ≥ 4 mL, assessed by palpation.Results: Androgen bioactivity was unmeasurable before puberty but measurable in nine of ten boys 0.8-1.7 years after pubertal onset. Total T and free T were measurable prepubertally in all boys and increased in two before pubertal onset. Androgen bioactivity correlated strongly with total T (r = 0.93, p < 0.001) and free T (r = 0.93, p < 0.001). ROC accuracies were 77% for androgen bioactivity, 93% for total T, and 95% for free T.Conclusion: Androgen bioactivity was undetectable before pubertal onset but measurable after in most boys, reflecting both the bioassay's lower sensitivity and potential physiological changes in androgen bioactivity during early puberty. Further studies are needed to clarify these observations.","PeriodicalId":10346,"journal":{"name":"Clinical Endocrinology","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143779225","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}

引用次数: 0

Application of Calcaneal Ultrasonography for Long-Term Fracture Risk Assessment in Diabetic Osteopathy.

IF 3 3区医学

Clinical Endocrinology Pub Date : 2025-04-01 DOI: 10.1111/cen.15245

Antonio Stefano Salcuni, Alessandro Brunetti, Francesca Marchese, Maria Carpentieri, Massimo Baraldo, Jacopo Angelini, Andrea Palermo, Fabio Vescini

{"title":"Application of Calcaneal Ultrasonography for Long-Term Fracture Risk Assessment in Diabetic Osteopathy.","authors":"Antonio Stefano Salcuni, Alessandro Brunetti, Francesca Marchese, Maria Carpentieri, Massimo Baraldo, Jacopo Angelini, Andrea Palermo, Fabio Vescini","doi":"10.1111/cen.15245","DOIUrl":"https://doi.org/10.1111/cen.15245","url":null,"abstract":"Objective: Bone densitometry and fracture risk algorithms have proved scarce reliability for fractures risk estimation in patients with diabetic osteopathy. Calcaneal quantitative ultrasound (QUS) is a noninvasive, low-cost technique already acknowledged for fracture risk assessment in patients with primary osteoporosis. Nevertheless, there is limited evidence on the role of QUS in patients with diabetes mellitus (DM). The aim of our study was to evaluate whether calcaneal QUS may effectively estimate long-term risk of fragility fractures in a group of patients with DM.Design: We conducted a retrospective study including 300 patients with type 1 (T1DM) or type 2 DM (T2DM) who underwent calcaneal QUS evaluation in 2013. Information about clinical fragility fractures, DM characteristics, and QUS parameters (broadband ultrasound attenuation, BUA; speed of sound, SOS; stiffness index, SI) were collected through electronic medical records. Ten years later, the patients were asked to participate to an interview about clinical fragility fractures occurring within the decade 2013-2023.Patients and measurement: At baseline, thirty-nine patients (13%) presented with at least one fragility fracture at any site. Fractured patients showed significantly lower QUS parameters than non-fractured (p < 0.0001), both in T1DM (n = 106) and in T2DM (n = 194). In 2023, 231 patients (132 with T2DM and 99 with T1DM) participated to the follow-up interview; 31 patients (13%) referred the occurrence a new clinical fragility fracture, and 14 patients (6%) a major osteoporotic fractures (MOF). Among QUS parameters, BUA was significantly associated to the occurrence of new MOF over 10-years in T2DM (p < 0.01), but not in T1DM.Conclusions: Calcaneal QUS may represent an effective tool in assessment of fracture risk among patients with T2DM.","PeriodicalId":10346,"journal":{"name":"Clinical Endocrinology","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143751521","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}

引用次数: 0

A Novel Molecular Regulatory Network in Bone Marrow Mesenchymal Stem Cells for Age-Related Osteoporosis.

IF 3 3区医学

Clinical Endocrinology Pub Date : 2025-03-27 DOI: 10.1111/cen.15239

Ming-Dong Gao, Xiao-Jun Wang, Peng-Biao Li, Qian-Qian Dong, Li-Min Tian

{"title":"A Novel Molecular Regulatory Network in Bone Marrow Mesenchymal Stem Cells for Age-Related Osteoporosis.","authors":"Ming-Dong Gao, Xiao-Jun Wang, Peng-Biao Li, Qian-Qian Dong, Li-Min Tian","doi":"10.1111/cen.15239","DOIUrl":"https://doi.org/10.1111/cen.15239","url":null,"abstract":"Background: This study evaluates the miRNA-mRNA regulatory networks that potentially influence the senescence mechanisms of bone marrow mesenchymal stem cells (BMSCs) in age-related osteoporosis (ARO). By identifying these networks, the study aims to offer new molecular markers and therapeutic targets for ARO.Methods: Five mRNA datasets were analyzed to identify common differentially expressed genes associated with senescence and osteoporosis. Seven hub genes were found to be enriched in the PI3K-Akt signaling pathway, and 22 hub miRNAs potentially regulating these genes. Primary BMSCs were harvested and cultured from seven younger, non-osteoporotic individuals and six older adults with osteoporosis. Expression levels of the hub genes and miRNAs were validated using quantitative real-time polymerase chain reaction (qRT-PCR).Results: Expression analysis showed that integrin subunit beta 3 (ITGB3), receptor tyrosine kinase ligand (KITLG), platelet-derived growth factor (PDGFB), and their associated regulatory miRNAs, exhibited significant differences between the two BMSC groups.Conclusion: A newly identified miRNA-mRNA regulatory network may mediate ARO via the PI3K-Akt signaling pathway in BMSCs. These molecular insights provide a foundation for potential therapeutic interventions targeting age-related osteoporosis.","PeriodicalId":10346,"journal":{"name":"Clinical Endocrinology","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143718131","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}

引用次数: 0

Patient Participation in Urine Specific Gravity Screening for Arginine Vasopressin Deficiency in an Inpatient Neurosurgical Clinic.

IF 3 3区医学

Clinical Endocrinology Pub Date : 2025-03-27 DOI: 10.1111/cen.15241

Jeanne-Marie Nollen, Anja H Brunsveld-Reinders, Nienke R Biermasz, Marco J T Verstegen, Eline Leijtens, Wilco C Peul, Ewout W Steyerberg, Wouter R van Furth

{"title":"Patient Participation in Urine Specific Gravity Screening for Arginine Vasopressin Deficiency in an Inpatient Neurosurgical Clinic.","authors":"Jeanne-Marie Nollen, Anja H Brunsveld-Reinders, Nienke R Biermasz, Marco J T Verstegen, Eline Leijtens, Wilco C Peul, Ewout W Steyerberg, Wouter R van Furth","doi":"10.1111/cen.15241","DOIUrl":"https://doi.org/10.1111/cen.15241","url":null,"abstract":"Objective: Detecting hypotonic urine (specific gravity < 1005 g/L) is crucial for the early identification of arginine vasopressin deficiency (AVP-deficiency), a common complication after pituitary surgery. This study aimed to evaluate the agreement between urine specific gravity measurements taken by patients using urine test strips and those taken by nurses using a refractometer, to assess the reliability of patient-conducted measurements for diagnosing this condition.Design: A prospective cohort study was conducted in a neurosurgical ward.Patients: The study included 110 participants who collectively provided 609 specific gravity measurements.Measurements: Specific gravity measurements were taken using Combur-10 urine test strips by patients and using an ATAGO MASTER-SUR/Nα refractometer by nurses. Agreement was analysed using Weighted Kappa and intraclass correlation coefficient (ICC).Results: Moderate agreement was found between patient-conducted measurements and those from the refractometer (Kappa = 0.47, ICC = 0.69). Substantial to good agreement was observed between patient and nurse measurements using urine test strips (Kappa = 0.82, ICC = 0.89). A threshold of 1.015 g/L in test strip measurements ensured no cases of hypotonic urine were missed, reducing the need for nurse-led testing by 50%. Patient satisfaction was high (mean 7.8), while nurse satisfaction was lower (mean 6.4).Conclusions: Although patients are less accurate than nurses in measuring specific gravity, they can reliably screen for hypotonic urine in AVP-deficiency diagnostics using urine test strips. A higher cut-off point improves diagnostic accuracy, enhances patient participation and reduces the screening workload for nurses.","PeriodicalId":10346,"journal":{"name":"Clinical Endocrinology","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143718181","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}

引用次数: 0

Ketotic Hypoglycaemia Following Sleeve Gastrectomy.

IF 3 3区医学

Clinical Endocrinology Pub Date : 2025-03-25 DOI: 10.1111/cen.15232

Jinwen He, Liza Phillips, Janelle Nisbet, Adam Morton

{"title":"Ketotic Hypoglycaemia Following Sleeve Gastrectomy.","authors":"Jinwen He, Liza Phillips, Janelle Nisbet, Adam Morton","doi":"10.1111/cen.15232","DOIUrl":"https://doi.org/10.1111/cen.15232","url":null,"abstract":"Post-bariatric surgery hypoglycaemia is typically mediated by hyperinsulinaemia, although the exact mechanisms are incompletely understood. Two cases of non-insulin mediated, ketotic hypoglycaemia following sleeve gastrectomy are presented. After fasting for 40 and 65 h, respectively, both patients developed symptomatic hypoglycaemia, with corresponding low insulin, low c-peptide and elevated beta-hydroxybutyrate levels. Morning cortisol and IGF1 levels were normal. Potential mechanisms for ketotic hypoglycaemia following bariatric surgery include reduction in hepatic, renal and intestinal gluconeogenesis, or alternatively an underlying inborn error of metabolism such as a glycogen storage disorder unmasked by bariatric surgery. Most glycogen storage disorders present in childhood, but there have been rare case reports of glycogen storage disorders types I, III and IX diagnosed in adulthood. Neither of the above cases had other features of a glycogen storage disorder such as elevated lactate, hyperuricaemia, hypertriglyceridaemia, hepatomegaly, myopathy or an indicative family history. Both patients trialled first-line dietary management, which was inadequate in managing hypoglycaemia. Treatment with the glucagon-like peptide-1 receptor agonist semaglutide resulted in the resolution of hypoglycaemic episodes in one patient, and a significant reduction in hypoglycaemic episodes in the other patient.","PeriodicalId":10346,"journal":{"name":"Clinical Endocrinology","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143699824","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}

引用次数: 0

Risk of Dementia in Non-Overtly Functional Adrenal Tumours (NOFAT)-Reply.

IF 3 3区医学

Clinical Endocrinology Pub Date : 2025-03-25 DOI: 10.1111/cen.15243

Hadis Mirzaei, Jekaterina Patrova, Buster Mannheimer, Jonatan D Lindh, Henrik Falhammar

引用次数: 0

Transsphenoidal Surgery for Pituitary Neuroendocrine Tumours (PiTNETs) in a Tertiary Hospital: Are There Differences Between Young and Elderly Patients?

IF 3 3区医学

Clinical Endocrinology Pub Date : 2025-03-24 DOI: 10.1111/cen.15242

Inés Borrego-Soriano, Paola Parra-Ramírez, Patricia Martín-Rojas-Marcos, Carlos Pérez-López, Pablo García-Feijoo, Cristina Álvarez-Escolá

{"title":"Transsphenoidal Surgery for Pituitary Neuroendocrine Tumours (PiTNETs) in a Tertiary Hospital: Are There Differences Between Young and Elderly Patients?","authors":"Inés Borrego-Soriano, Paola Parra-Ramírez, Patricia Martín-Rojas-Marcos, Carlos Pérez-López, Pablo García-Feijoo, Cristina Álvarez-Escolá","doi":"10.1111/cen.15242","DOIUrl":"https://doi.org/10.1111/cen.15242","url":null,"abstract":"Objective: The incidence of pituitary neuroendocrine tumours (PiTNET) in elderly patients is rising, but treatment recommendations and data of outcomes are limited. This study aimed to compare the clinical characteristics and surgical outcomes of elderly and younger patients.Design: Retrospective and observational study.Patients: One hundred twenty-four adults underwent transsphenoidal surgery due to PiTNET in our hospital from 2018 to 2023.Measurements: We stratified the population according to age and compared the clinical features and surgical outcomes.Results: Thirty-two patients (25.8%) were 65 years or older. Elderly patients had a lower rate of hormonal excess (15.6% vs. 60.9%, p < 0.001) and a higher rate of hypopituitarism (43.8% vs. 8.7%, p < 0.001), with a greater median number of affected axis (3 vs. 1, p < 0.001). Only the rate of ACTH excess was different between groups (0 vs. 26.1%, p = 0.003). The most common surgical indication in elderly patients was visual impairment (31.3%) compared to functionality in younger individuals (42.4%, p = 0.012). There were no differences in the Knosp grade, but elderly patients had a higher rate of macroadenomas (84.4% vs. 58.7%, p = 0.002). In the immediate postsurgical period, there were no differences in the rate of surgical or hormonal complications, or in the hospital stay. Ki67 was lower in elderly patients (1.44% vs. 2.77%, p = 0.045). After 6-12 months, there were no differences in the tumour resection rate, visual improvement, or hormonal status.Conclusion: With experienced surgical and endocrinological care, transsphenoidal surgery for elderly patients with PiTNET is effective and safe.","PeriodicalId":10346,"journal":{"name":"Clinical Endocrinology","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-03-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143699840","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}

引用次数: 0

The Utility of Magnetic Resonance Imaging for Hypophysitis Secondary to Immune Checkpoint Inhibitor Use.

IF 3 3区医学

Clinical Endocrinology Pub Date : 2025-03-24 DOI: 10.1111/cen.15240

Qi Yang Damien Qi, Jeevan Vettivel, Krisha Solanki, Anna Davis, Anthony W Russell, Leon A Bach

{"title":"The Utility of Magnetic Resonance Imaging for Hypophysitis Secondary to Immune Checkpoint Inhibitor Use.","authors":"Qi Yang Damien Qi, Jeevan Vettivel, Krisha Solanki, Anna Davis, Anthony W Russell, Leon A Bach","doi":"10.1111/cen.15240","DOIUrl":"https://doi.org/10.1111/cen.15240","url":null,"abstract":"Objective: Immune checkpoint inhibitor (ICI) therapy is an efficacious cancer treatment, often resulting in autoimmune off-target effects. Magnetic resonance imaging (MRI) has been a recommended investigation for ICI-related hypophysitis. We sought to identify the frequency of identifiable MRI changes.Design: A retrospective case-control audit was performed of individuals who received one or more ICI between January 2018 and December 2023 at a single tertiary referral centre in Melbourne, Australia.Patients: Individuals requiring hormone supplementation were screened for hypophysitis. A randomly selected control group receiving ICI demonstrated normal pituitary function at the time of MRI.Measurements and results: Fifty-four (6.9%) of 778 individuals who received ICI therapy were diagnosed with ICI-related hypophysitis. 43 had an MRI examining the pituitary gland within 2 months. Four (9.3%) had initial reporting consistent with hypophysitis. Upon re-examination by an MRI-Fellowship trained radiologist, a further 6 (total 10, 23%) had acute hypophysitis changes. Among the control group, 45 of 46 individuals had an MRI within 2 months of normal pituitary biochemistry. All initial MRI reports were normal, but upon review 1 (2.2%) had acute hypophysitis abnormalities, with a significant difference between groups (10/43 vs 1/45, p = 0.003). Within the control group, a further 10 (22%) individuals had an atrophic pituitary and/or empty sella. No other significant pituitary pathology, including pituitary metastasis, was identified.Conclusions: Although changes were observed in a minority of patients with hypophysitis, MRI provides minimal additional clinically meaningful information, so it could be reserved for atypical cases or those with persisting symptoms despite adequate supplementation.","PeriodicalId":10346,"journal":{"name":"Clinical Endocrinology","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-03-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143691370","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}

引用次数: 0

Moderate to Severe Short Stature and Joint Involvement in Individuals With ACAN Deletions.

IF 3 3区医学

Clinical Endocrinology Pub Date : 2025-03-24 DOI: 10.1111/cen.15237

Lucia Sentchordi-Montané, Francisca Díaz-Gonzalez, Silvia Modamio-Høybjør, Julián Nevado, Flavia Machado-Fernandes, Atilano Carcavilla, María Salcedo, Jorge Saraiva, Sarina G Kant, Christian de Bruin, Hermine A van Duyvenvoorde, Iris González-Cabaleiro, Lourdes Rey-Cordo, José Luis Chamorro-Martín, Vanesa Cancela-Muñiz, José Juan Alcón-Sáez, Manuel Parrón-Pajares, Sergio B Sousa, Karen E Heath

{"title":"Moderate to Severe Short Stature and Joint Involvement in Individuals With ACAN Deletions.","authors":"Lucia Sentchordi-Montané, Francisca Díaz-Gonzalez, Silvia Modamio-Høybjør, Julián Nevado, Flavia Machado-Fernandes, Atilano Carcavilla, María Salcedo, Jorge Saraiva, Sarina G Kant, Christian de Bruin, Hermine A van Duyvenvoorde, Iris González-Cabaleiro, Lourdes Rey-Cordo, José Luis Chamorro-Martín, Vanesa Cancela-Muñiz, José Juan Alcón-Sáez, Manuel Parrón-Pajares, Sergio B Sousa, Karen E Heath","doi":"10.1111/cen.15237","DOIUrl":"https://doi.org/10.1111/cen.15237","url":null,"abstract":"Objective: In recent years, numerous heterozygous ACAN variants have been identified in individuals with short stature. The phenotypic spectrum includes mild to moderate short stature, advanced to delayed bone age, mild dysmorphic features, brachydactyly and/or other mild skeletal defects and joint pathology in early adulthood which often requires surgery. However, only one multiexonic ACAN deletion has been reported to date, in a family with short stature, advanced bone age in childhood and early osteoarthritis and spine deformity in the father. Here, we describe 15 individuals from 6 families with ACAN deletions.Design, patients and measurements: All probands were referred for short stature to paediatric endocrinology and genetic clinics in different European hospitals. After molecular studies detected the deletion, segregation studies were performed when available. Clinical and radiological features were evaluated in all cases.Results: Three complete and three intragenic deletions were detected. Patients present with moderate to severe short stature, mildly disproportionate growth and mild dysmorphic features. The majority suffer from joint involvement (osteochondritis dissecans and/or early onset osteoarthritis) which has required early surgical intervention.Conclusions: Although individuals with heterozygous ACAN deletions exhibit phenotypic variability, it is noticeable that they present with a quite homogeneous and age-dependent phenotype with a high proportion of severe joint problems.","PeriodicalId":10346,"journal":{"name":"Clinical Endocrinology","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-03-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143699828","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}

引用次数: 0