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Early Bilateral Gonadoblastoma in a Patient with Mixed Gonadal Dysgenesis (Karyotype 45,X/46,XY): Case Report and Review of Literature [PDF]

Acta Medica Lituanica, 2022
Background: Mixed gonadal dysgenesis is a rare congenital and challenging condition, characterized mainly by 45,X/46,XY karyotype mosaicism, asymmetrical gonadal development and various internal and external genital anatomy. Because of frequent disorder
Ignas Trainavičius, Darius Dasevičius, Birutė Burnytė, Robertas Kemežys, Gilvydas Verkauskas   +4 more
doaj   +2 more sources

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

Clinical Endocrinology
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, Julie Park, Mohamed Sameh Shalaby   +2 more
exaly   +3 more sources

Mixed gonadal dysgenesis in 45,X Turner syndrome with gene [PDF]

Annals of Pediatric Endocrinology & Metabolism, 2015
Turner syndrome is the most common chromosomal disorder in girls. Various phenotypic features show depending upon karyotype from normal female through ambiguous genitalia to male.
Jae Yeop Jung, Sohyoung Yang, Eun-Hwan Jeong, Ho-Chang Lee, Yong-Moon Lee, Heon-Seok Han, Kyung Hee Yi   +6 more
doaj   +2 more sources

Urological management in a pediatric patient with mixed gonadal dysgenesis [PDF]

Urology Case Reports
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,
Wendy Matilde Chipa Beizaga, Luis José Orbegoso Celis, Brandom Juced Torres Marigorda, Miguel Martín Aguilar Ulloque, Kilder Nicolay García Murga, Valeria Linares Vega, Fernando Jeancarlos Imán Izquierdo, Ronald Aquino-Ortega, Juana del Valle-Mendoza, Wilmer Gianfranco Silva-Caso   +9 more
doaj   +2 more sources

45,X[2]/46,X,der(Y).ish Psu idic(Y)(q11.2)[38] mosaic karyotype in mixed gonadal dysgenesis: a case report and literature review [PDF]

Frontiers in Pediatrics
Mixed gonadal dysgenesis is caused by a variety of chromosome abnormalities, most commonly Y chromosome mosaicism. An 8-year-old boy presented with short stature for possible treatment with recombinant growth hormone.
Qiang Zhang, Xiaoxiao Chen, Yanyan Cao, Yanyan Cao, Yun Zhou, Yingye Liu, Lijun Liu, Lei Liu, Xiaowei Cui   +8 more
doaj   +2 more sources

Mixed Ovarian Dissecting Gonadoblastoma Coexisting with Dysgerminoma, Trophoblastic Tumor, and Leydig Cell Tumor in a Phenotypically Normal 46, XX Female: A Case Report [PDF]

International Journal of Women's Health
Wenxian Xu, Ketan Chu, Yizhou Huang, Yibing Lan, Jianhong ZhouDepartment of Gynecology, Women’s Hospital, School of Medicine, Zhejiang University, Hangzhou, Zhejiang, People’s Republic of ChinaCorrespondence: Jianhong Zhou, Department of Gynecology ...
Xu W, Chu K, Huang Y, Lan Y, Zhou J
doaj   +2 more sources

Mullerian remnants presenting as a pelvic cyst in a young adult with 45X0/46XY mixed gonadal dysgenesis

Urology Annals, 2021
A 22-year-old known case of 45XO/46XY mixed gonadal dysgenesis, reared as a male, presented with complaints of suprapubic and left iliac fossa pain for the past 1 month.
Samson Ravirajendran, Velmurugan Palaniyandi, Anuj Arora, Venkat Ramanan, Natarajan Kumaresan   +4 more
doaj   +1 more source

#332 : A Rare Case Report of Mixed Gonadal Dysgenesis with MOS 46, XY, 47,XY+21, 45,X Karyotype

Fertility & Reproduction, 2023
Background and Aims: Mixed gonadal dysgenesis is a condition of unusual and asymmetrical gonadal development leading to an unassigned sex differentiation. A number of differences have been reported in the karyotype, most commonly a mosaicism 45, X/46, XY.
Meycha Dafhonsa, Uki Retno Budihastuti, Eriana Melinawati   +2 more
doaj   +1 more source

Ovarian Gonadoblastoma with Dysgerminoma in a Young Girl with 46, XX Karyotype: A Case Report [PDF]

Journal of Clinical and Diagnostic Research, 2013
Gonadoblastoma is a rare gonadal tumour consisting of a mixture of germ cells and sex cord stromal derivatives resembling immature granulosa and Sertoli cells.
Deepa V Kanagal, Kishan Prasad, Aparna Rajesh, Rohan G Kumar, Sara Cherian, Harish Shetty, Prasanna Kumar Shetty   +6 more
doaj   +1 more source

Swyer syndrome (46XY pure gonadal dysgenesis) presenting with dysgerminoma

Archives of Medicine and Health Sciences, 2019
Dysgerminoma is the most common malignant germ cell tumor of the ovary. This malignancy can be associated with pure gonadal dysgenesis (Swyer syndrome), mixed gonadal dysgenesis, and partial gonadal dysgenesis. Dysgerminoma usually develops in phenotypic
M Banyameen Iqbal, Iqra Mushtaq, Tushar Kambale, Indranil Dey   +3 more
doaj   +1 more source