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This case report describes a 4-year-old patient with ambiguous genitalia and a 45,X/46,XY karyotype. A rudimentary uterus was identified and bilateral inguinal exploration was performed, including ligation of a residual right spermatic cord and orchiectomy of a left inguinal testis. The report emphasizes the need for careful physical findings and multidisciplinary management because of the malignancy risk.",{"@graph":69,"@context":122},[70,84,105],{"@type":71,"itemListElement":72},"BreadcrumbList",[73,77,79,82],{"item":74,"name":75,"@type":76,"position":8},"https://docshare.wps.com","Home","ListItem",{"item":78,"name":9,"@type":76,"position":14},"https://docshare.wps.com/document/",{"item":80,"name":35,"@type":76,"position":81},"https://docshare.wps.com/document/healthcare/",3,{"item":83,"name":65,"@type":76,"position":19},"https://docshare.wps.com/document/urological-management-in-a-pediatric-patient-with-mixed-gonadal-dysgenesis-case-report/415869/",{"url":83,"name":65,"@type":85,"image":86,"author":91,"headline":65,"publisher":94,"fileFormat":97,"inLanguage":63,"description":67,"dateModified":98,"datePublished":99,"encodingFormat":97,"isAccessibleForFree":100,"interactionStatistic":101},"DigitalDocument",{"url":87,"@type":88,"width":89,"height":90},"https://docshare.wps.com/thumbnails/urological-management-in-a-pediatric-patient-with-mixed-gonadal-dysgenesis-case-report/415869.png","ImageObject",300,407,{"name":92,"@type":93},"Rizky","Person",{"url":74,"name":95,"@type":96},"DocShare","Organization","application/pdf","2026-11-07","2026-09-28",true,{"@type":102,"interactionType":103,"userInteractionCount":44},"InteractionCounter",{"@type":104},"ViewAction",{"@type":106,"mainEntity":107},"FAQPage",[108,114,118],{"name":109,"@type":110,"acceptedAnswer":111},"What disorder of sex development is described in the case?","Question",{"text":112,"@type":113},"The report concerns mixed gonadal dysgenesis, characterized by sex chromosome abnormalities and abnormal/incomplete gonadal differentiation.","Answer",{"name":115,"@type":110,"acceptedAnswer":116},"What were the key findings during evaluation of the 4-year-old patient?",{"text":117,"@type":113},"The patient had ambiguous genitalia with a 45,X/46,XY karyotype; a rudimentary uterus was visualized, and inguinal evaluation showed a left testis in the inguinal canal while the right testis was not palpable.",{"name":119,"@type":110,"acceptedAnswer":120},"How was urological management performed in the case?",{"text":121,"@type":113},"Bilateral inguinal exploration was carried out: the residual right spermatic cord was ligated and orchiectomy was performed for the left inguinal testis; multidisciplinary assessment supported diagnosis and risk management.","https://schema.org",{"og:url":83,"og:type":124,"og:title":65,"og:site_name":95,"og:description":67},"article",{"robots":126,"canonical":83},"index,follow",{"doc_id":128,"site_id":62},415869,1790767280,{"code":4,"msg":5,"data":131},{"doc_id":128,"user_id":132,"nickname":92,"user_avatar":133,"doc_module":4,"category_id":34,"category_name":35,"doc_title":65,"doc_description":67,"doc_content":134,"file_id":135,"file_url":136,"file_type":137,"file_size":138,"view_count":44,"is_deleted":4,"is_public":8,"is_downloadable":8,"audit_status":8,"page_count":19,"language":139,"language_code":63,"site_id":62,"html_lang":63,"table_of_contents":140,"faqs":141,"seo_title":142,"seo_description":67,"update_tm":143,"read_time":52,"preview_page_count":4},962085564807,"https://ap-avatar.wpscdn.com/davatar_6f874abed73319feea01a86fa6f0fab8","Urology Case Reports 64 (2026) 103311  \nContents lists available at ScienceDirect  \nUrology Case Reports  \njournal [homepage:](homepage: www.elsevier.com/locate/eucr)[ www.elsevier.com/locate/eucr](homepage: www.elsevier.com/locate/eucr)  \n| Pediatrics\u003Cbr>Urological management in a pediatric patient with mixed gonadal dysgenesis |  | |\n| --- | --- | --- |\n| Wendy Matilde Chipa Beizagaa, Luis Jos´e Orbegoso Celisa, Brandom Juced Torres Marigordab, Miguel Martín Aguilar Ulloque a, Kilder Nicolay García Murgac, Valeria Linares Vega d, Fernando Jeancarlos Im´an Izquierdod, Ronald Aquino-Ortega e, Juana del Valle-Mendoza e, Wilmer Gianfranco Silva-Casoe,* \u003Cbr>a Unidad de Urología Pedi´atrica, Hospital Edgardo Rebagliati Martins, Lima, Peru b Unidad de Cirugía Pedi´atrica, Hospital Nacional Dos de Mayo, Lima, Peru c Servicio de Urología Especializada, Hospital Edgardo Rebagliati Martins, Lima, Peru d Servicio Urología Hospital Nacional Guillermo Almenara, Lima, Peru\u003Cbr>e Biomedicine Laboratory, Research Center of the Faculty of Health Sciences, Universidad Peruana de Ciencias Aplicadas, Lima, Peru |  |  |\n| A R T I C L E I N F O\u003Cbr>Keywords:\u003Cbr>Disorders of sex development Gonads\u003Cbr>Urogenital abnormalities | A B S T R A C T |  |\n|  | Disorders of sex development are conditions characterized by alterations in gonadal development that lead to discordance between chromosomal sex, gonadal sex, and phenotypic sex. We report the case of a 4 years old patient with ambiguous genitalia and 45,X/46,XY karyotype. A rudimentary uterus was visualized, and bilateral inguinal exploration was performed, during which the residual right spermatic cord was ligated and orchiectomy of the left testis located in the inguinal canal was carried out. This case highlights the relevance of clinical findings identified during physical examination and emphasizes the importance of multidisciplinary manage- |  |\n|  | ment due to the risk of gonadal malignancy. |  |\n\n1. Introduction  \nMixed gonadal dysgenesis is a disorder of sex development characterized by abnormalities of the sex chromosomes. It has an estimated incidence of 1 in 15000 live births and constitutes the second cause of ambiguous genitalia after congenital adrenal hyperplasia1. The most frequently reported karyotype is 45,X/46,XY, ant it can involve genetic mutations in gens related to gonadal differentiation (like SRY, SOX9 or NR5A1).  \nThis condition is characterized by abnormal or incomplete gonadal differentiation, resulting in a wide range of sexual phenotypes. Some patients may exhibit phenotypic features typical of Turner syndrome. It is also defined by the presence of an immature or dysgenetic unilateral testis and a contralateral streak gonad; Müllerian duct derivatives (rudimentary uterus, vagina, and fallopian tubes) may also be present. This is attributed to low testosterone production, which impairs antiMüllerian hormone activity. Patients with late diagnosis may present with primary amenorrhea, delayed pubertal development, or infertility2,3.  \nDiagnosis is based on a detailed physical examination to assess external genitalia and gonadal location, along with karyotyping and advanced techniques such as FISH, given the possibility of occult mosaicism. Imaging studies, including pelvic and abdominal ultrasound, should be performed and may be complemented by laparoscopy with gonadal biopsy to identify and confirm gonadal tissue4.  \nWe present the case of a 4-year-old patient who presented to the pediatric urology outpatient clinic with ambiguous genitalia.  \n2. Case report  \nA 4-year-old patient, product of a full-term vaginal delivery to nonconsanguineous parents and with no known comorbidities, was referred for evaluation of ambiguous genitalia. On physical examination, the patient had masculine facial features, incomplete penoscrotal transposition, a phallus measuring 3 × 1.5 cm, and penoscrotal hypospadias. The labioscrotal folds were fused, empty, and without palpable gonadal conten","cbCaiawpAsNhwScm","https://ap.wps.com/l/cbCaiawpAsNhwScm","pdf",2271713,"English","# Introduction\n## Case report","[{\"question\":\"What disorder of sex development is described in the case?\",\"answer\":\"The report concerns mixed gonadal dysgenesis, characterized by sex chromosome abnormalities and abnormal/incomplete gonadal differentiation.\"},{\"question\":\"What were the key findings during evaluation of the 4-year-old patient?\",\"answer\":\"The patient had ambiguous genitalia with a 45,X/46,XY karyotype; a rudimentary uterus was visualized, and inguinal evaluation showed a left testis in the inguinal canal while the right testis was not palpable.\"},{\"question\":\"How was urological management performed in the case?\",\"answer\":\"Bilateral inguinal exploration was carried out: the residual right spermatic cord was ligated and orchiectomy was performed for the left inguinal testis; multidisciplinary assessment supported diagnosis and risk management.\"}]","Urological management in a pediatric patient with mixed gonadal dysgenesis - Case report | PDF",1790603260]