Results 1 to 10 of about 5,340 (169)

Germ Cell Tumors in 46, XY Gonadal Dysgenesis [PDF]

Indian Journal of Endocrinology and Metabolism
Introduction: To present the clinical data, investigative profile, management, and follow-up of patients with 46, XY gonadal dysgenesis with germ cell tumors from the endocrine unit of a tertiary care university hospital.
Raiz A Misgar, Sajad U Islam Mir, Mohmad H Mir, Mir I. Bashir, Arshad I. Wani, Shariq R. Masoodi   +5 more
doaj   +2 more sources

Single-Center Experience in Patients with Mixed Gonadal Dysgenesis [PDF]

Turkish Archives of Pediatrics
Objective: Mixed gonadal dysgenesis (MGD) is an uncommon chromosomal Disorder of Sexual Development (DSD). There is insufficient information regarding clinical findings and growth patterns. This study aimed to provide more information about mixed gonadal
Ebru Barsal Çetiner, Zeynep Donbaloğlu, Berna Singin, Bilge Aydın Behram, Kürşat Çetin, Güngör Karagüzel, Hale Tuhan, Mesut Parlak   +7 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

Novel mutation of MAP3K1 gene in 46,XY DSD with complete gonadal dysgenesis

Taiwanese Journal of Obstetrics & Gynecology, 2022
Objective: Swyer syndrome, or 46, XY complete gonadal dysgenesis, is a disorder of human sexual development which present with female external genitalia, lack of female reproductive organs, and a 46, XY karyotype.
Pei-Hsiu Yu, Meng-Che Tsai, Chun-Ting Chiang, Han-Yu Wang, Pao-Lin Kuo   +4 more
doaj   +1 more source

The Coexistence of Gonadal Dysgenesis With Mayer-rokitansky-küster-hauser Syndrome, and Dandy-Walker Variant

Caspian Journal of Neurological Sciences, 2021
Background: Gonadal dysgenesis, the most common cause of primary amenorrhea, is characterized by absent or underdeveloped ovaries. Although the coexistence of gonadal dysgenesis and Mayer-Rokitansky-Küster-Hauser (MRKH) has been reported, it is still ...
Shahin Koohmanaee, Amirhossein Tamimi, Soroush Ahmadimacciani, Atena Tamimi, Vahid Aminzadeh, Marjaneh Zarkesh, Seyyedeh Azadeh Hoseini Nouri, Fatemeh Rajaeipoor, Manijeh Tabrizi, Setila Dalili   +9 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

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

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   +1 more source

THE RISK FOR DEVELOPING TUMOR IN PATIENTS WITH GONADAL DYSGENESIS 46,XY

Бюллетень сибирской медицины, 2015
Disorders of sex development with Y chromosome material has been associated with a high risk for developing germ cell tumors such as gonadoblastoma or dysgerminoma.
O. Yu. Latyshev, L. N. Samsonova, E. P. Kasatkina, G. F. Okminyan, Ye. V. Kiselyova, Ye. S. Timofeyeva   +5 more
doaj   +1 more source

Gonadal tumor risk in pediatric and adolescent phenotypic females with disorders of sex development and Y chromosomal constitution with different genetic etiologies

Frontiers in Pediatrics, 2022
ObjectivesThis retrospective study sought to investigate the risk and proportion of gonadal neoplasms in phenotypic female pediatric patients with DSD and the presence of the Y chromosome and different genetic backgrounds in a single Chinese center ...
Liangsheng Lu, Feihong Luo, Xiang Wang
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