[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"doc-seo-444242-105":3,"detail-sidebar-cat-0-en-105":81,"doc-detail-444242-en":130},{"code":4,"msg":5,"data":6},0,"ok",{"site_id":7,"language":8,"slug":9,"title":10,"keywords":11,"description":12,"schema_data":13,"social_meta":74,"head_meta":76,"extra_data":78,"updated_unix":80},105,"en","star-protein-deficiency-in-clinical-practice-a-case-series-from-saudi-arabia","StAR Protein Deficiency in Clinical Practice - A Case Series From Saudi Arabia","","Steroidogenic acute regulatory (StAR) protein deficiency is a rare autosomal recessive disorder causing impaired steroid hormone biosynthesis, leading to congenital adrenal hyperplasia and variability in sexual development. Limited Saudi Arabian data prompted a retrospective case series describing clinical and genetic findings in seven genetically confirmed patients followed at a referral center. All patients had consanguineous ancestry and presented with a female external phenotype despite chromosomal sex, ranging from typical genitalia to feminization, electrolyte disturbances, and chronic salt-wasting, with rare cholestatic jaundice.",{"@graph":14,"@context":73},[15,34,56],{"@type":16,"itemListElement":17},"BreadcrumbList",[18,23,27,31],{"item":19,"name":20,"@type":21,"position":22},"https://docshare.wps.com","Home","ListItem",1,{"item":24,"name":25,"@type":21,"position":26},"https://docshare.wps.com/document/","Document",2,{"item":28,"name":29,"@type":21,"position":30},"https://docshare.wps.com/document/healthcare/","Healthcare",3,{"item":32,"name":10,"@type":21,"position":33},"https://docshare.wps.com/document/star-protein-deficiency-in-clinical-practice-a-case-series-from-saudi-arabia/444242/",4,{"url":32,"name":10,"@type":35,"image":36,"author":41,"headline":10,"publisher":44,"fileFormat":47,"inLanguage":8,"description":12,"dateModified":48,"datePublished":49,"encodingFormat":47,"isAccessibleForFree":50,"interactionStatistic":51},"DigitalDocument",{"url":37,"@type":38,"width":39,"height":40},"https://docshare.wps.com/thumbnails/star-protein-deficiency-in-clinical-practice-a-case-series-from-saudi-arabia/444242.png","ImageObject",300,407,{"name":42,"@type":43},"Cipher","Person",{"url":19,"name":45,"@type":46},"DocShare","Organization","application/pdf","2026-11-02","2026-09-29",true,{"@type":52,"interactionType":53,"userInteractionCount":55},"InteractionCounter",{"@type":54},"ViewAction",9,{"@type":57,"mainEntity":58},"FAQPage",[59,65,69],{"name":60,"@type":61,"acceptedAnswer":62},"What is StAR protein deficiency and why is it clinically important?","Question",{"text":63,"@type":64},"StAR protein deficiency disrupts steroid hormone biosynthesis, causing congenital adrenal hyperplasia and disorders of sex development with variable presentation.","Answer",{"name":66,"@type":61,"acceptedAnswer":67},"How were the seven patients in this case series diagnosed?",{"text":68,"@type":64},"All seven patients were comprehensively evaluated and clinically diagnosed with CAH due to StAR deficiency, with genetic testing confirming homozygous pathogenic or likely pathogenic STAR variants.",{"name":70,"@type":61,"acceptedAnswer":71},"What key clinical features did the patients show?",{"text":72,"@type":64},"Despite chromosomal sex, all presented with a female external phenotype, with features ranging from typical genitalia to varying degrees of feminization; many had electrolyte disturbances and chronic salt-wasting, and two cases had neonatal cholestatic jaundice.","https://schema.org",{"og:url":32,"og:type":75,"og:title":10,"og:site_name":45,"og:description":12},"article",{"robots":77,"canonical":32},"index,follow",{"doc_id":79,"site_id":7},444242,1790764955,{"code":4,"msg":82,"data":83},"success",[84,88,92,96,101,106,110,115,119,122,126],{"id":22,"doc_module":4,"doc_module_name":25,"category_name":85,"show_sort_weight":86,"slug":87},"Story & Novel",90,"story-novel",{"id":26,"doc_module":4,"doc_module_name":25,"category_name":89,"show_sort_weight":90,"slug":91},"Literature",80,"literature",{"id":33,"doc_module":4,"doc_module_name":25,"category_name":93,"show_sort_weight":94,"slug":95},"Exam",70,"exam",{"id":97,"doc_module":4,"doc_module_name":25,"category_name":98,"show_sort_weight":99,"slug":100},5,"Comic",60,"comic",{"id":102,"doc_module":4,"doc_module_name":25,"category_name":103,"show_sort_weight":104,"slug":105},6,"Technology",50,"technology",{"id":107,"doc_module":4,"doc_module_name":25,"category_name":29,"show_sort_weight":108,"slug":109},7,40,"healthcare",{"id":111,"doc_module":4,"doc_module_name":25,"category_name":112,"show_sort_weight":113,"slug":114},8,"Research & Report",30,"research-report",{"id":55,"doc_module":4,"doc_module_name":25,"category_name":116,"show_sort_weight":117,"slug":118},"Religion & Spirituality",20,"religion-spirituality",{"id":117,"doc_module":4,"doc_module_name":25,"category_name":120,"show_sort_weight":117,"slug":121},"World Cup","world-cup",{"id":123,"doc_module":4,"doc_module_name":25,"category_name":124,"show_sort_weight":123,"slug":125},10,"Lifestyle","lifestyle",{"id":127,"doc_module":4,"doc_module_name":25,"category_name":128,"show_sort_weight":97,"slug":129},19,"General","general",{"code":4,"msg":82,"data":131},{"doc_id":79,"user_id":132,"nickname":42,"user_avatar":133,"doc_module":4,"category_id":107,"category_name":29,"doc_title":10,"doc_description":12,"doc_content":134,"file_id":135,"file_url":136,"file_type":137,"file_size":138,"view_count":55,"is_deleted":4,"is_public":22,"is_downloadable":22,"audit_status":22,"page_count":107,"language":139,"language_code":8,"site_id":7,"html_lang":8,"table_of_contents":140,"faqs":141,"seo_title":142,"seo_description":12,"update_tm":143,"read_time":144,"preview_page_count":4},687208528416,"https://ap-avatar.wpscdn.com/davatar_9964176cb1d06d4a9deccf72a44ae3dc","Wiley  \nCase Reports in Endocrinology Volume 2026, Article ID 8489134, 7 pages [https://doi.org/10.1155/crie/8489134](https://doi.org/10.1155/crie/8489134)  \nCase Series  \nStAR Protein Deficiency in Clinical Practice: A Case Series From Saudi Arabia  \nAbeer Alabduljabbar , 1 Dania Farooq ,2 Sara Abid ,2 Sara Aljazaeri ,2  \nRaghad Alhuthil , 1 and Afaf Alsagheir 1,2  \n1Department of Pediatrics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia  \n2College of Medicine, Alfaisal University, Riyadh, Saudi Arabia  \nCorrespondence should be addressed to Afaf Alsagheir; [asagheir@kfshrc.edu.sa](asagheir@kfshrc.edu.sa)  \nReceived 23 July 2025; Revised 6 December 2025; Accepted 17 December 2025  \nAcademic Editor: Kalyani Sen  \nCopyright © 2026 Abeer Alabduljabbar et al. Case Reports in Endocrinology published by John Wiley & Sons Ltd. This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.  \nObjectives: Steroidogenic acute regulatory (StAR) protein deficiency is a rare autosomal recessive disorder that disrupts steroid hormone biosynthesis, resulting in congenital adrenal hyperplasia (CAH) and variations in sexual development. However, limited data is available in Saudi Arabia. Therefore, this study describes the clinical and genetic findings of seven Saudi patients with StAR deficiency.  \nMethods: This case series was conducted at King Faisal Specialist Hospital and Research Centre (KFSHRC) in Riyadh, Saudi Arabia.  \nResults: All seven patients were born to consanguineous parents, most commonly first cousins. Five patients had a 46,XY karyotype, and two had a 46,XX karyotype. All were clinically diagnosed with CAH due to StAR deficiency. Despite their chromosomal sex, all presented with a female external phenotype. Clinical features ranged from typical female genitalia to varying degrees of feminization with bilateral inguinal gonads or undescended testes in 46,XY individuals. Most patients exhibited electrolyte disturbances and chronic salt-wasting. Interestingly, two cases presented with neonatal cholestatic jaundice. Genetic testing confirmed homozygous pathogenic or likely pathogenic STAR variants in all cases. Dysmorphism occurred in one patient with (c.402T >G, p.Tyr134Ter) mutation. The five 46,XY patients underwent bilateral gonadectomy. All patients remain clinically stable on long-term steroid replacement.  \nConclusion: This study highlights the diverse clinical spectrum of StAR deficiency, ranging from early adrenal crisis to DSD and atypical presentations such as cholestasis. The findings underscore the importance of early genetic diagnosis and counseling, particularly in consanguineous populations, and point to the need for continued research into the clinical and molecular complexity of StAR deficiency.  \nKeywords: 46,XY disorders of sex development; cholestasis; congenital adrenal hyperplasia; consanguinity; StAR deficiency; steroidogenesis  \n1. Introduction  \nSteroid hormones are essential for maintaining homeostasis, supporting reproductive development, and regulating numerous physiological processes. Despite their varied functions, all steroid hormones originate from a common precursor, cholesterol. The steroidogenic acute regulatory (StAR) protein plays a pivotal role in steroidogenesis by facilitating the transport of  \ncholesterol into the mitochondria, where it is converted topregnenolone, the rate-limiting step in steroid hormone biosynthesis [1] .  \nMutations in the STAR gene lead to a dysfunctional StAR protein, impairing cholesterol transport and disrupting steroid hormone production [2]. Clinically, this condition, known as StAR deficiency, presents as primary adrenal insufficiency and disorders of sex development (DSDs). Individuals with a 46,XY  \n2 Case Reports in Endocrinology  \nkaryotype may present with a phenotypically female appearance despite havin","cbCaim7f1lEBHctI","https://ap.wps.com/l/cbCaim7f1lEBHctI","pdf",409978,"English","# Introduction\n# Patients and Methods\n# Results\n# Conclusion","[{\"question\":\"What is StAR protein deficiency and why is it clinically important?\",\"answer\":\"StAR protein deficiency disrupts steroid hormone biosynthesis, causing congenital adrenal hyperplasia and disorders of sex development with variable presentation.\"},{\"question\":\"How were the seven patients in this case series diagnosed?\",\"answer\":\"All seven patients were comprehensively evaluated and clinically diagnosed with CAH due to StAR deficiency, with genetic testing confirming homozygous pathogenic or likely pathogenic STAR variants.\"},{\"question\":\"What key clinical features did the patients show?\",\"answer\":\"Despite chromosomal sex, all presented with a female external phenotype, with features ranging from typical genitalia to varying degrees of feminization; many had electrolyte disturbances and chronic salt-wasting, and two cases had neonatal cholestatic jaundice.\"}]","StAR Protein Deficiency in Clinical Practice - A Case Series From Saudi Arabia | PDF",1790707311,18]