{"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":null,"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":3.0000,"publicationDate":"2025-05-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Endocrine","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1007/s12020-025-04252-5","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"ENDOCRINOLOGY & METABOLISM","Score":null,"Total":0}
引用次数: 0
Abstract
Purpose: 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.
Methods: This retrospective, single-center study analyzed 29 DSD cases with 46,XY karyotypes, all of which were found to carry SRD5A2 variants.
Results: 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.
Conclusion: 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.
期刊介绍：
Well-established as a major journal in today’s rapidly advancing experimental and clinical research areas, Endocrine publishes original articles devoted to basic (including molecular, cellular and physiological studies), translational and clinical research in all the different fields of endocrinology and metabolism. Articles will be accepted based on peer-reviews, priority, and editorial decision. Invited reviews, mini-reviews and viewpoints on relevant pathophysiological and clinical topics, as well as Editorials on articles appearing in the Journal, are published. Unsolicited Editorials will be evaluated by the editorial team. Outcomes of scientific meetings, as well as guidelines and position statements, may be submitted. The Journal also considers special feature articles in the field of endocrine genetics and epigenetics, as well as articles devoted to novel methods and techniques in endocrinology.
Endocrine covers controversial, clinical endocrine issues. Meta-analyses on endocrine and metabolic topics are also accepted. Descriptions of single clinical cases and/or small patients studies are not published unless of exceptional interest. However, reports of novel imaging studies and endocrine side effects in single patients may be considered. Research letters and letters to the editor related or unrelated to recently published articles can be submitted.
Endocrine covers leading topics in endocrinology such as neuroendocrinology, pituitary and hypothalamic peptides, thyroid physiological and clinical aspects, bone and mineral metabolism and osteoporosis, obesity, lipid and energy metabolism and food intake control, insulin, Type 1 and Type 2 diabetes, hormones of male and female reproduction, adrenal diseases pediatric and geriatric endocrinology, endocrine hypertension and endocrine oncology.
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