Results 21 to 30 of about 1,949 (196)

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

Case Rep Med
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.
Oğlak SC, Söğütçü N, Akgöl S, Adıgüzel Ö, Ateş Eminoğlu HE, Güzel G, Balcı V, Acar E, Acar A, Bozan F.   +9 more
europepmc   +2 more sources

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

Clin Case Rep
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.
Vasef M, Afshar Moghaddam N, Raoufi M, Iranipour M, Moghadami S.   +4 more
europepmc   +2 more sources

Sertoli cell tumor associated with ovarian sex cord tumor with annular tubules in a patient with 46 XY disorder of sex development and 9p24.3 deletion, case report. [PDF]

J Obstet Gynaecol Res
Abstract We report a rare case involving a 22‐year‐old phenotypically female patient who presented to our care with primary amenorrhea and spontaneous breast development. Hormonal analysis indicated hypergonadotropic hypogonadism, and imaging revealed a hypoplastic uterus and calcified ovaries.
Petrillo T, Battipaglia C, Semprini E, Baldessari C, Pirola M, Calabrese O, Farulla A, Ternelli G, Eccher A, Botticelli L, Genazzani AD.   +10 more
europepmc   +2 more sources

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

Aniridia, Gonadoblastoma, Wilms' Tumor and Deletion 11p13

Acta Medica, 1998
An incidence of bilateral gonadoblastoma in a 23-month old, mentally retarded boy with congenital sporadic aniridia, undescended dysgenetic testes, deletion of a chromosome (11) (p1302p14.2) and a later occurring unilateral Wilms' tumor is reported.
Hvězdoslav Stefan, Vladimír Semecký
doaj   +1 more source

Gonadoblastoma in Turner syndrome with puberty delay: A case report and literature review

Molecular Genetics & Genomic Medicine, 2023
Background Y chromosome material stands as an independent risk determinant for the onset of gonadoblastoma (GB) and subsequent gonadal germ cell tumours in individuals with Turner syndrome (TS). However, the delayed and underestimated identification of Y
Wei Shen, Ya Li
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

Ovarian gonadoblastoma with dysgerminoma in a girl with 46,XX karyotype 17a-hydroxylase/17, 20-lyase deficiency: A case report and literature review

Frontiers in Endocrinology, 2022
17α−hydroxylase/17,20−lyase deficiency (17-OHD), caused by mutations in the gene of the cytochrome P450 family 17 subfamily A member 1 (CYP17A1), is a rare type of congenital adrenal hyperplasia (CAH), usually characterized by cortisol and sex steroid ...
Min Yin, Jiaxin Yang, Qinjie Tian, Xinyue Zhang   +3 more
doaj   +1 more source

Classical gonadoblastoma: its relationship to the ‘dissecting’ variant and undifferentiated gonadal tissue [PDF]

, 2017
Classical gonadoblastoma occurs almost entirely in the dysgenetic gonads of an individual who has a disorder of sex development. Approximately 40% of such neoplasms are bilateral.
Roth, Lawrence M., Lawrence M Roth, Liang Cheng, Cheng, Liang   +3 more
core   +1 more source

Imaging Findings in Dysgerminoma in a Case of 46 XY, Complete Gonadal Dysgenesis (Swyer syndrome) [PDF]

Journal of Clinical and Diagnostic Research, 2016
A 46 XY pure gonadal dysgenesis also known as Swyer syndrome. These patients are phenotypic females with normal female external genitalia and absent testicular tissue.
Pratiksha Yadav, Sanjay Khaladkar, Aditi Gujrati   +2 more
doaj   +1 more source