Endocrine最新文献

{"title":"A practical use of bone turnover markers in management of patients with skeletal fragility.","authors":"Alessandro Brunetti, Miriam Cellini, Valentina Vitale, Lucrezia Maria Silvana Gentile, Maria Francesca Birtolo, Fabio Vescini, Andrea Gerardo Lania, Gherardo Mazziotti","doi":"10.1007/s12020-025-04275-y","DOIUrl":"https://doi.org/10.1007/s12020-025-04275-y","url":null,"abstract":"<p><strong>Purpose: </strong>Bone turnover markers (BTMs) are metabolites produced during the bone remodeling cycle. BTMs can be distinguished in bone formation (procollagen type I N-terminal propeptide, bone-specific alkaline phosphatase and osteocalcin) and bone resorption markers (C-terminal telopeptide of type 1 collagen, N-terminal telopeptide of type 1 collagen and the tartrate-resistant isoform 5b of acid phosphatase). The evaluation of BTMs can offer dynamic information on bone turnover, making it a valuable tool for the management of patients with bone metabolic diseases.</p><p><strong>Results: </strong>In the context of osteoporosis, BTMs have demonstrated utility in the monitoring of adherence and response to bone-active treatment, as well as in the management of treatment withdrawal. Additionally, they can be helpful in the evaluation of secondary osteoporosis, mainly when bone turnover is low. However, BTM assessment could be influenced by considerable biological and analytical variability, which must be addressed to ensure a correct clinical interpretation of the values. An accurate patient evaluation is therefore essential for selecting the most reliable biomarker to adopt in clinical practice and appropriate sample handling is critical for minimizing analytical variability.</p><p><strong>Conclusions: </strong>In recent decades, the applications of BTMs in metabolic bone diseases have expanded significantly and future research will further highlight the role of these markers in the clinical management of osteoporosis.</p>","PeriodicalId":49211,"journal":{"name":"Endocrine","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-05-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144175240","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":"Patient-specific factors, patient preference, and nodule size as implications in the initial surgery of high risk indeterminate thyroid nodules.","authors":"Lorenzo Scappaticcio, Nicole Di Martino, Pamela Ferrazzano, Stefano Lucà, Eduardo Clery, Miriam Longo, Vanda Amoresano Paglionico, Giovanni Cozzolino, Maria Ida Maiorino, Giovanni Docimo, Pierpaolo Trimboli, Renato Franco, Katherine Esposito, Giuseppe Bellastella","doi":"10.1007/s12020-025-04289-6","DOIUrl":"https://doi.org/10.1007/s12020-025-04289-6","url":null,"abstract":"<p><strong>Purpose: </strong>To evaluate the frequency of total thyroidectomy (TT) for thyroid nodules cytologically classified as high-risk indeterminate (TIR3B) and to explore the impact of patient specific factors (PSFs) (some clinical variables) associated with TT for follicular thyroid carcinoma (FTC). Moreover, we aim to investigate the nodule size as a factor influencing the risk of malignancy (ROM) and the risk of aggressiveness of FTC.</p><p><strong>Methods: </strong>We retrieved consecutive FTC cases, and an equal number of follicular adenoma (FA) from adult patients with TIR3B thyroid nodules, which were operated in our Academic referral center between March 1, 2018, and December 31, 2024.</p><p><strong>Results: </strong>We reviewed 112 TIR3B thyroid nodules, histologically subdivided into 56 FTC cases and 56 FA cases. TT was performed in 83% of cases. PSFs were present in 47.4% of patients undergoing hemithyroidectomy (HT) and in 61.3% of patients undergoing TT. No statistical significance was found for PSFs as predictors of TT. For the 30 mm ≤ dmax <40 mm size category we found an odds ratio (OR) of 2.0 [1.101; 3.551] (p-value 0.022) for risk of FTC. We found the existence of a positive relationship between dimensions of FTC and its aggressiveness.</p><p><strong>Conclusion: </strong>TT was largely performed as initial surgery for TIR3B thyroid nodules. PSFs and patient preferences should be explored when planning the initial surgical management of a nodule with TIR3B cytology. Large nodule size (30 ≤ dmax < 40) can be integrated into decision making for patients with a cytology of TIR3B, since it increases the risk of FTC. Larger FTC seems to be more aggressive.</p>","PeriodicalId":49211,"journal":{"name":"Endocrine","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144163190","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":"A rare combination of hypogonadotropic hypogonadism, GH deficiency and rectal atresia in a female with an FGFR1 variant: a case report and systematic review of the literature.","authors":"Krystallenia I Alexandraki, Odysseas Violetis, Eleni Memi, Helen Fryssira, Vasileios Papanikolaou, Maria Papagianni, George Mastorakos","doi":"10.1007/s12020-025-04261-4","DOIUrl":"https://doi.org/10.1007/s12020-025-04261-4","url":null,"abstract":"<p><strong>Purpose: </strong>To report a case with combined pituitary hormone deficiency (CPHD) and Fibroblast growth factor receptor 1 (FGFR1) gene defect, and summarize the clinical characteristics of similar cases by reviewing the current reports from the literature.</p><p><strong>Methods: </strong>A 24-year-old woman was admitted to the outpatient endocrinology unit with a diagnosis of primary amenorrhea, history of Growth Hormone deficiency and multiple congenital anomalies including rectal atresia. The subsequent hormonal investigation led to the diagnosis of hypogonadotropic hypogonadism and persistent GH deficiency. Abdominal and pelvic ultrasounds were normal whereas the brain MRI revealed a hypoplastic sella turcica with a hypoplastic anterior pituitary lobe, an ectopic posterior pituitary lobe and a thin pituitary stalk. The genetic analysis revealed a novel pathogenic missense heterozygous variant (c.1958G > A, p.Agr635Gln) in exon 15 of FGFR1 gene. PubMed, Scopus, and Web of Science were searched for the identification of studies reporting cases of CPHD with FGFR1 gene defects.</p><p><strong>Results: </strong>Of the 648 records retrieved, 10 were included in this review. A comprehensive overview of the cases was summarized, and their clinical and genetic characteristics were presented.</p><p><strong>Conclusion: </strong>Although FGFR1 variants have been associated with Kallmann syndrome and isolated hypogonadotropic hypogonadism and recently with CPHD, the patient's phenotype includes phenotypic alterations not previously described, to the best of our knowledge, within the spectrum of non-reproductive features of either of these entities. Isolated GH deficiency combined with other non-common abnormalities exerts a great possibility for subsequent CPHD manifestation.</p>","PeriodicalId":49211,"journal":{"name":"Endocrine","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144163090","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":"Pathophysiology and evaluation of bone health in adrenal diseases.","authors":"M M Uygur, L di Filippo, S Frara, S Menotti, A Giustina","doi":"10.1007/s12020-025-04260-5","DOIUrl":"https://doi.org/10.1007/s12020-025-04260-5","url":null,"abstract":"<p><p>Adrenal diseases are associated with an increased risk of osteopenia/osteoporosis and fragility fractures. Although dual-energy X-ray absorptiometry remains the gold standard for assessing bone mineral density, its limitations in accurately predicting vertebral fractures underscore the need for complementary diagnostic tools, particularly in the context of adrenal disorders. Vertebral fractures, often asymptomatic, may go undetected without targeted assessments such as morphometric evaluation. Incorporating advanced diagnostic tools, such as the trabecular bone score, into the evaluation of adrenal disorder-related skeletal fragility may enhance the identification of high-risk patients and support tailored therapeutic strategies. This review explores skeletal fragility from pathophysiological, clinical, and diagnostic perspectives and provides guidance to physicians for the management of adrenal disorders to improve bone health outcomes.</p>","PeriodicalId":49211,"journal":{"name":"Endocrine","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144163173","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":"A decade of active surveillance for low-risk papillary thyroid carcinoma in Argentina: persistent challenges in acceptance and discontinuation rates.","authors":"Anabella Smulever, Fabián Pitoia","doi":"10.1007/s12020-025-04296-7","DOIUrl":"https://doi.org/10.1007/s12020-025-04296-7","url":null,"abstract":"<p><strong>Background: </strong>Active surveillance (AS) for low-risk papillary thyroid carcinoma (PTC) has been practiced for over 30 years with encouraging results globally. However, its adoption remains limited in certain contexts. This study aimed to evaluate the long-term oncological outcomes of patients undergoing AS and compare changes in the acceptance and discontinuation rates in Argentina over the past decade.</p><p><strong>Methods: </strong>This prospective, observational cohort study (2014-2024) included 358 patients diagnosed with low-risk PTC measuring ≤1.5 cm across two university hospitals. Of these, 104 patients (29%) opted for AS and were followed up with thyroid ultrasounds and function tests annually for at least 24 months. Surgery was recommended for tumors showing a ≥3 mm increase in size, newly detected foci, or metastatic involvement. Outcomes were analyzed in two distinct phases: 2014-2019 (A) and 2020-2024 (B).</p><p><strong>Results: </strong>Of the 104 patients under AS, 10.6% developed tumor growth of ≥3 mm, and 7.6% developed new PTC foci. The 5- and 10-year cumulative incidence of tumor growth was 7 and 8%, respectively. Lymph node metastases occurred in 0.9%. AS acceptance rates remained stable between Phase A (25%) and Phase B (30%) (p = 0.82). AS discontinuation rates were also similar: 19.5% in A and 12.6% in B (p = 0.63). Among patients discontinuing AS due to tumor progression, 31% underwent surgery. Anxiety was the main reason for surgery in 66% of cases in Phase A and 40% in Phase B. Lobectomies increased from 1.5% (A) to 9% (B, p = 0.8). No evidence of disease was achieved in 84% of cases at the end of follow-up.</p><p><strong>Conclusions: </strong>Despite persistently low acceptance and adherence to AS, the long-term outcomes observed in this prospective study reinforce this approach as a feasible initial management option for low-risk PTC. These findings underscore the need for further efforts to improve the acceptance of AS among eligible patients.</p>","PeriodicalId":49211,"journal":{"name":"Endocrine","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-05-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144163032","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":"Impact of health management on medication adherence and blood pressure and blood glucose indices in elderly patients with hypertension and diabetes mellitus.","authors":"Hong Yang, Junhua Hu, Ting Deng, Ting Li","doi":"10.1007/s12020-025-04249-0","DOIUrl":"https://doi.org/10.1007/s12020-025-04249-0","url":null,"abstract":"<p><strong>Background: </strong>The occurrence of hypertension combined with diabetes can lead to a continuous deterioration in the physical condition of elderly patients. Health management, as an indispensable part of medical services, can achieve early prevention of diseases, early treatment of existing conditions, and the integration of prevention and treatment.</p><p><strong>Objective: </strong>We aimed to explore the impact of health management on blood pressure and blood glucose levels, health knowledge mastery, medication adherence, self-management abilities, and quality of life in elderly patients with hypertension (HTN) and diabetes mellitus (DM).</p><p><strong>Methods: </strong>One hundred and fifty elderly patients with HTN and DM who underwent physical examinations from January 2022 to December 2023 were enrolled. Those who received routine health management from January 2022 to December 2022 were assigned to the control group, while those who received comprehensive health management from January 2023 to December 2023 were assigned to the observation group, with 75 patients in each group. Key outcomes were compared, including lipid profiles, blood pressure, glycosylated hemoglobin, fasting plasma glucose, 2-hour postprandial blood glucose, the time taken for physical examinations, patient compliance rates, and physical examination accuracy rates, disease-related knowledge scores, self-management capacity through ESCA scale, quality of life through DSQL scale, and medication adherence through MMAS-8 scale.</p><p><strong>Results: </strong>The observation group demonstrated lower lipid levels, blood pressure, and glycemic indices, along with improved examination efficiency, higher disease knowledge scores, higher ESCA scale and MMAS-8 scale scores, and lower DSQL scale scores than the control group (P < 0.01).</p><p><strong>Conclusion: </strong>Providing health management to elderly patients with HTN and DM significantly reduced blood lipid, blood pressure, and blood glucose levels, improve patients' self-management ability, quality of life, and medication adherence, thereby contributing to disease management.</p>","PeriodicalId":49211,"journal":{"name":"Endocrine","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-05-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144121340","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":"Primary autoimmune hypothalamitis: management strategies and long-term outcomes in a tertiary care setting with a focused review of literature.","authors":"Liza Das, Ravi Shah, Rajender Kumar, Ritu Shree, Sushant Kumar Sahoo, Debajyoti Chatterjee, Chirag Kamal Ahuja, Paramjeet Singh, Bhagwant Rai Mittal, Manjul Tripathi, Pinaki Dutta","doi":"10.1007/s12020-025-04267-y","DOIUrl":"https://doi.org/10.1007/s12020-025-04267-y","url":null,"abstract":"<p><strong>Background: </strong>Primary autoimmune hypothalamitis is an exceptionally rare inflammatory condition of the hypothalamus. Its etiology, clinical presentation, and management are not well established, with significant overlap and distinctions from hypophysitis.</p><p><strong>Material and methods: </strong>This study presents management and outcomes of patients with autoimmune hypothalamitis managed at a tertiary care centre. A literature review was also performed analyzing clinico-demographic, biochemical, radiological, and therapeutic characteristics.</p><p><strong>Results: </strong>There were 4 cases of autoimmune hypothalamitis out of 2200 sellar-suprasellar lesions managed over the past decade at our centre. Case 1 presented with arginine vasopressin (AVP) deficiency and adipsia, showing partial radiological response to glucocorticoids. Case 2 presented with neuropsychiatric features, with limited improvement on therapy. Case 3 had panhypopituitarism with stable disease on imaging, while Case 4 had AVP deficiency and hypogonadism with no significant radiological or hormonal recovery post therapy. Literature review (n = 34) of all cases showed female predominance (88%), but minimal association with pregnancy (6%). Polyuria-polydipsia was the most common presentation (81%), followed by memory disturbances and/or confusion (35%). Secondary hypogonadism was most common (88%) hormone deficiency followed by hypocortisolism (85%) and AVP deficiency (82%). T2 hyperintensity was the most common feature (95%) on MRI. Glucocorticoids enabled partial radiological response in most cases (82%), with hormonal recovery being less common (18%). Adjunctive medical therapy was required in 54.1% cases (most commonly azathioprine). Surgery was primarily used for biopsy and adjunctive radiotherapy in 3 cases. FDG-PET demonstrated utility in diagnosis, systemic involvement and follow-up.</p><p><strong>Conclusion: </strong>Autoimmune hypothalamitis remains a challenging diagnosis due to its rarity and overlapping features with other sellar pathologies. Histopathological evaluation or circulating antibodies can point towards the diagnosis. FDG-PET can be valuable in diagnosis and follow-up. Glucocorticoids are the mainstay of treatment, with partial radiological response commonly observed.</p>","PeriodicalId":49211,"journal":{"name":"Endocrine","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-05-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144121347","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":"Puberty, but not precocious puberty is influenced by weight gain in the first years of life.","authors":"Vittorio Ferrari, Alessandra Li Pomi, Daniele Ciofi, Malgorzata Gabriela Wasniewska, Stefano Stagi","doi":"10.1007/s12020-025-04254-3","DOIUrl":"https://doi.org/10.1007/s12020-025-04254-3","url":null,"abstract":"<p><strong>Introduction: </strong>Factors favouring the secular trend of decreasing average age of puberty include eating habits, environmental endocrine disruptors, genetics, stress and lifestyle. The association between higher BMI and timing and tempo of puberty has long been documented in the general population but data for children with precocious puberty are poor.</p><p><strong>Aims: </strong>To evaluate the relationship between the role of weight gain in the first years of life on the onset of central precocious puberty.</p><p><strong>Patients and methods: </strong>We analyzed the data of 120 Caucasian girls diagnosed with CPP between May 2020 and March 2021 (group 1) and a control group of 540 girls. Patients with CPP associated with hypothalamic-pituitary congenital malformations, neurological, neurosurgical and/or genetic diseases, psychomotor delay, oncological diseases, other endocrine impairments requiring hormonal treatments, or taking drugs that may interfere with pubertal development were excluded.</p><p><strong>Results: </strong>In CPP girls (group 1), mean age of B2 was 7.67 ± 0.88 years; BMI was 0.14 ± 0.88 SDS, and average BW was -0.08 ± 1.04 SDS. In this group an evaluation of delta SDS BMIB2-BW did not reveal a statistically significant relationship between thelarche and increased BMI. In comparison, the mean age of B2 in the control group (group 2) was 10.06 ± 1.03 years, BMI was -0.02 ± 1.01 SDS, and mean BW was -0.03 ± 0.93 SDS and we found a clear correlation between delta SDS BMIB2-BW and thelarche age (R: 0.27; p < 0.0001).</p><p><strong>Conclusions: </strong>Our data confirm that weight gain plays a crucial role in the trend of earlier pubertal development in the general population, but precocious puberty does not appear to be influenced by weight variation in the first years of life. It is therefore important to consider other factors which may contribute to triggering or aggravating this condition.</p>","PeriodicalId":49211,"journal":{"name":"Endocrine","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-05-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144121362","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":"Cabergoline monotherapy in polycystic ovary syndrome patients with elevated prolactin: a viable option?","authors":"Aslı Sıgınır, Hayri Bostan, Emre Sedar Saygılı, Ceren Tufan, Ersen Karakılıc","doi":"10.1007/s12020-025-04279-8","DOIUrl":"https://doi.org/10.1007/s12020-025-04279-8","url":null,"abstract":"<p><strong>Purpose: </strong>Cabergoline is widely used to treat hyperprolactinemia, but its effects on polycystic ovary syndrome (PCOS) remain unclear. Since hyperprolactinemia is present in nearly 30% of PCOS cases, this study aims to assess the impact of cabergoline on androgen levels and clinical outcomes in PCOS with elevated prolactin cases, discussing these findings with the results in prolactinoma cases.</p><p><strong>Methods: </strong>A total of 66 women aged 18-40 were included in this retrospective cohort study, with 36 in the PCOS with elevated prolactin group (median 24.0 (22.0-27.5) years) and 30 in the prolactinoma group (median 28.0 (23.7-33.0) years). Only patients who had been started on cabergoline treatment and had available follow-up data were included. Hormonal profiles and clinical findings, including hirsutism, and menstrual cycle regularity, were assessed before and after cabergoline treatment.</p><p><strong>Results: </strong>After cabergoline treatment, significant reductions in prolactin and total testosterone levels were observed in both groups. In the PCOS group, total testosterone decreased from 0.65-0.49 ng/mL (p < 0.001) and dehydroepiandrosterone-sulphate levels from 407.5-301.0 µg/dL (p < 0.001). In the prolactinoma group, total testosterone decreased from 0.39-0.29 ng/mL (p < 0.001). Menstrual irregularities improved markedly in both groups, with prevalence decreasing from 83.3-5.6% in PCOS group and from 80.0-10.0% in the prolactinoma group (p < 0.001). Furthermore, in PCOS group, the prevalence of hirsutism was decreased from 86.1-61.1% (p = 0.007).</p><p><strong>Conclusion: </strong>Cabergoline is effective in lowering prolactin and androgen levels while improving menstrual regularity in both PCOS and prolactinoma patients, highlighting its potential as a valuable therapeutic option for patients with PCOS with elevated prolactin.</p>","PeriodicalId":49211,"journal":{"name":"Endocrine","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-05-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144121310","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 evaluation of cases of disorders of sex development related to SRD5A2.","authors":"Can Celiloglu, Ihsan Turan, Leman Damla Kotan, Ayşe Merve Cimen, Semine Ozdemir Dilek, Bilgin Yuksel","doi":"10.1007/s12020-025-04252-5","DOIUrl":"https://doi.org/10.1007/s12020-025-04252-5","url":null,"abstract":"<p><strong>Purpose: </strong>Pathogenic variants in SRD5A2 are a common cause of 46,XY disorders of sex development (DSDs). The aim of this study is to present the clinical, laboratory, and genetic characteristics of patients diagnosed with SRD5A2-associated 46,XY disorders of sex development (DSD), along with any decisions made regarding sex assignment. Furthermore, it also highlights the challenges encountered in sex assignment and the potential influence of social factors on how families adapt to these decisions.</p><p><strong>Methods: </strong>This retrospective, single-center study analyzed 29 DSD cases with 46,XY karyotypes, all of which were found to carry SRD5A2 variants.</p><p><strong>Results: </strong>The majority of the patients initially presented with female sex assignment (86.2%). The study identified a predominance of homozygous SRD5A2 variants (93.1%) with the most common variant being p.Ala65Pro. Gender assignment decisions were made for 25 cases, with male gender assignment in 80% of cases. The parents of three adolescent athlete patients did not comply with the male gender decision and one of these patients was supported as a girl after the age of 18, with a corrective operation being subsequently performed. No patients underwent a gonadectomy before the age of 18.</p><p><strong>Conclusion: </strong>This study emphasizes the challenges in sex assignment for SRD5A2-associated DSD. Some XY DSD patients may have difficulty adhering to medical team guidance because of the negative impact of the patients in their families. When necessary, gender assessment committees should reevaluate DSD cases from a current perspective and reconsider their decisions.</p>","PeriodicalId":49211,"journal":{"name":"Endocrine","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-05-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144086941","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}