Results 11 to 20 of about 2,312 (175)

Stage IIIC Bilateral Dysgerminoma in a 16‐Year‐Old Phenotypic Female With 46,XY Complete Gonadal Dysgenesis and Primary Amenorrhea: A Case Report [PDF]

Clinical Case Reports, Volume 14, Issue 6, June 2026.
ABSTRACT Dysgerminoma, the most common malignant ovarian germ cell tumor, has a significantly increased incidence in individuals with 46,XY complete gonadal dysgenesis (Swyer syndrome). However, primary amenorrhea is the hallmark presentation of Swyer syndrome in adolescence.
Mahshid Vasef, Noushin Afshar Moghaddam, Masoomeh Raoufi, Maryam Iranipour, Samar Moghadami   +4 more
wiley   +2 more sources

Clinical Spectrum, Surgical Management, and Outcomes of NR5A1-Related 46,XY Differences of Sex Development: A Narrative Review [PDF]

Medicina
Background and Objectives: NR5A1-related 46,XY differences of sex development (DSD) represent a heterogeneous group of conditions characterized by variable degrees of undervirilization, gonadal dysgenesis, and endocrine dysfunction.
Stefania Vicario, Maria Escolino, Giorgia Esposito, Mauro Porcaro, Raffaella Di Mase, Mustafa Azizoglu, Ciro Esposito   +6 more
doaj   +2 more sources

Comprehensively identifying and validating the implications of NR5A1 and DHX37 variants for 46,XY disorders of sex development diagnosis [PDF]

BMC Medical Genomics
Background The clinical phenotype and pathogenic mechanism of 46,XY disorders of sex development (DSD) are complex, and several pathogenic variants are identified by next-generation sequencing.
Cui Li, Binyu Yang, Xu Li, Shuai Zhen, Xiaogang Liu, Pingping Li, Wei Chen, Xiaoyan Wang, Mei Xue   +8 more
doaj   +2 more sources

Advanced‐Stage Gonadal Dysgerminoma in a Patient With a Previous Diagnosis of Familial Swyer Syndrome: A Very Rare Genetic Entity [PDF]

Case Reports in Medicine, Volume 2026, Issue 1, 2026.
Introduction Swyer syndrome is a genetic abnormality characterized by a 46,XY karyotype in a phenotypically female individual. Affected individuals typically have average or tall stature, unambiguous genitalia at birth, the presence of Müllerian structures, and bilateral streak gonads.
Süleyman Cemil Oğlak, Nilgün Söğütçü, Sedat Akgöl, Özgür Adıgüzel, Hümeyra Elif Ateş Eminoğlu, Gizem Güzel, Veysi Balcı, Emine Acar, Abdullah Acar, Fuat Bozan, Aneek Das Bhowmik   +10 more
wiley   +2 more sources

Genetic Characterization and Multidisciplinary Management of Complete Androgen Insensitivity Syndrome: Unveiling a Novel AR Mutation [PDF]

Clinical Case Reports, Volume 14, Issue 5, May 2026.
ABSTRACT A novel AR frameshift mutation (c.2023_2035del) was identified in a 17‐year‐old phenotypic female with Complete Androgen Insensitivity Syndrome (CAIS). This report emphasizes the necessity of molecular characterization and multidisciplinary management to address diagnosis, surgical timing, and psychological well‐being in disorder of sex ...
Maria Francesca Astorino, Serena Scalise, Chiara Di Bella, Maria Angela La Rosa, Basilia Piraino, Marco Calabrò, Mattia Gentile, Rosaria Maddalena Ruggeri, Emanuela Esposito, Silvana Briuglia, Salvatore Cannavò   +10 more
wiley   +2 more sources

Mixed Gonadal Dysgenesis: A Comprehensive Review of Clinical Spectrum, Diagnostic Strategies, and Management Approaches [PDF]

Clinical Endocrinology, Volume 104, Issue 2, Page 92-102, February 2026.
ABSTRACT Background Mixed gonadal dysgenesis (MGD) is a rare form of differences in sex development (DSD) typically associated with 45,X/46,XY mosaicism. The phenotypic presentation of MGD varies from atypical genitalia to typical male or female appearances often associated with Turner stigmata.
Dinesh Giri, Sushil Yewale, Hannah Hickingbotham, Cara Williams, Mohamed Shalaby, Julie Alderson, Julie Park   +6 more
wiley   +2 more sources

Isodicentric Y chromosome with SRY duplication in a female with complete gonadal dysgenesis [PDF]

Molecular Cytogenetics
Background Sexual differentiation and development rely upon many genetic and environmental factors and any disruption of these can lead to Differences/Disorders of Sex Development (DSDs).
Arash Salmaninejad, Zahra Yaghoubi, Tahereh Haghzad, Maryam Latifi, Reza Bayat, Somaye Esnaashari, Setila Dalili   +6 more
doaj   +2 more sources

Case Report: De novo DHX37 mutations in Saudi patients with 46,XY differences of sex development [PDF]

Frontiers in Endocrinology
Differences of sex development (DSD) are a group of congenital conditions involving atypical chromosomal, gonadal, or anatomical sex development. DHX37, a gene involved in ribosome biogenesis, located on chromosome 12, at the 12q24.31 region, has ...
Abeer Alabduljabbar, Sara Abid, Dania Farooq, Sara Aljazaeri, Yara Khamag, Raghad Alhuthil, Latifah Alfahad, Afaf Alsagheir, Afaf Alsagheir   +8 more
doaj   +2 more sources

Germ cell and other tumors in individuals with differences in sex development [PDF]

CA: A Cancer Journal for Clinicians, Volume 75, Issue 6, Page 587-601, November/December 2025.
Abstract Approximately one in 3500 to one in 5100 live‐born infants have atypical external genital development, known as differences in sex development (DSD). In 2005, an expert consensus conference thoroughly reviewed aspects of health care for individuals with DSD.
Selma Feldman Witchel, Miguel Reyes‐Múgica   +1 more
wiley   +2 more sources

MAP3K1 Variant Causes Hyperactivation of Wnt4/β-Catenin/FOXL2 Signaling Contributing to 46,XY Disorders/Differences of Sex Development

Frontiers in Genetics, 2022
Background: 46,XY disorders/differences of sex development (46,XY DSD) are congenital conditions that result from abnormal gonadal development (gonadal dysgenesis) or abnormalities in androgen synthesis or action.
Hong Chen, Hong Chen, Qingqing Chen, Yilin Zhu, Ke Yuan, Huizhu Li, Bingtao Zhang, Zexiao Jia, Hui Zhou, Mingjie Fan, Yue Qiu, Qianqian Zhuang, Zhaoying Lei, Mengyao Li, Wendong Huang, Li Liang, Qingfeng Yan, Qingfeng Yan, Qingfeng Yan, Chunlin Wang   +19 more
doaj   +1 more source