Results 61 to 70 of about 1,721 (201)

46, XY Complete Gonadal Dysgenesis (Swyer Syndrome) Presenting as Primary Amenorrhea in a Normomorphic Adult Female From Kakamega, Kenya

Clinical Case Reports, Volume 13, Issue 1, January 2025.
ABSTRACT Differences/disorders of sex development (DSDs) are a diverse group of congenital conditions that result in disagreement between an individual's sex chromosomes, gonads, and/or anatomical sex. The 46, XY DSD group is vast and includes various conditions caused by genetic variants, hormonal imbalances, or abnormal sensitivity to testicular ...
Christian Omoaghe
wiley   +1 more source

Y Chromosome Sequences in Turner's Syndrome: Association with Virilization and Gonadoblastoma

, 2003
The presence of Y chromosome fragments in patients with Turner's syndrome is known to increase the risk of gonadoblastoma and virilization. Y chromosome material is detected in up to 6% of patients with Turner's syndrome by karyotype.
Rumie, H, Jara, A, H. Rumie, Garcia, H, A. Foradori, G. Repetto, S. Hidalgo, E. Panteon, H. Garcia, Foradori, A, Torrealba, I, F. Ugarte, Muzzo, S, Ugarte, F, Mancilla, EE, Poggi, H, A. Jara, I. Torrealba, Cattani, A, Repetto, G, S. Muzzo, H. Poggi, Panteon, E, A. Cattani, Hidalgo, S, E.E. Mancilla   +25 more
core   +1 more source

Unilateral gonadoblastoma with dysgerminoma in normal fertile woman having a child: Extremely rare occurrence with characteristic immunohistomorphology

Indian Journal of Pathology and Microbiology, 2016
Gonadoblastomas (GBYs) are rare gonadal tumors almost always arising from a dysgenetic gonad with a Y chromosome. Very rarely, GBYs appear in otherwise normal women with a history of pregnancy. The typical histological appearance of GBY can be altered by
Maithili Mandar Kulkarni, Siddhi Gaurish Sinai Khandeparkar, Avinash R Joshi, Pallavi V Bhayekar   +3 more
doaj   +1 more source

Gonadoblastoma with Coexistent Features of Mixed Germ Cell-Sex Cord Stroma Tumor: A Case Report

, 1995
Gonadoblastoma and mixed germ cell-sex cord stroma tumor have been widely recognized as two separate entities on the basis of both clinical and pathological features.
Maurizio Colafranceschi, Daniela Massi
core   +1 more source

Spectrum of gonadal morphology in disorders of sexual development: A case series

Indian Journal of Pathology and Microbiology
Introduction: Disorders of sexual development (DSD) comprise a group of congenital conditions, occurring in approximately 1 in 4,500 to 5,500 newborns. Materials and Methods: Over a 3-year period, seven cases presented with ambiguous genitalia, primary ...
PM Abida, Bandyopadhyay Arghya, Mondal Ambalika, Moumita Maiti, Barui Gopinath   +4 more
doaj   +1 more source

GÔNADAS DISGENÉTICAS; GONADOBLASTOMA, LAPAROSCOPIA, GONADECTOMIA

Clinical and Biomedical Research, 2022
Mulheres com cariótipo XY e gônadas em fita são consideradas portadoras de disgenesia gonadal. Essas pacientes apresentam um risco mais alto de desenvolver doenças nas gônadas. Em tais casos, a remoção cirúrgica profilática é indicada.
João Sabino L. da Cunha-Filho, Carlos Souza Souza, Fernando Freitas, Letícia F. Terres, Daniela Vettor, Eduardo Pandolfi Passos, Têmis Felix, Sharbel Maluf   +7 more
doaj  

A SRY-HMG box frame shift mutation inherited from a mosaic father with a mild form of testicular dysgenesis syndrome in Turner syndrome patient

BMC Medical Genetics, 2010
Background Sex determining factor (SRY) located on the short arm of the Y chromosome, plays an important role in initiating male sex determination, resulting in development of testicular tissue.
Batra Swaraj, Haque Shameemul, Khalil Hesham, Dhillon Varinderpal S, Shahid Mohammad, Husain Syed, Looijenga LHJ   +6 more
doaj   +1 more source

SRY+ Derivative X Chromosome in a Female With Apparently Typical Sexual Development

Molecular Genetics &Genomic Medicine, Volume 12, Issue 11, November 2024.
When the SRY gene is present in a 46,XX fetus, some degree of testicular development is expected. Our laboratory detected an SRY+ derivative X chromosome resulting from a translocation between Xq28 and Yp11.2 in an apparently typical female neonate. This case demonstrates how the SRY gene may be present in a 46,XX biological female without differences ...
Casey J. Brewer, Alyxis G. Coyan, Nicki Smith, Brittany Jones, Teresa A. Smolarek, Jie Liu   +5 more
wiley   +1 more source

Incidental gonadoblastoma in swyer syndrome: a case report with brief review of literature

, 2021
Swyer syndrome is a disorder of sexual differentiation with an incidence of 1 in 80,000 population. Dysgenetic gonads have a propensity for malignant transformation particularly in the presence of Y chromosome and hence need prophylactic removal.
Rai, Rakhi, Zangmo, Rinchen, Roy, Kallol Kumar, Garg, Deepali, Suresh, Gayatri, ., Jayati, Mathur, Sandeep   +6 more
core   +1 more source

Society for endocrinology guideline for understanding, diagnosing and treating female hypogonadism

Clinical Endocrinology, Volume 101, Issue 5, Page 409-442, November 2024.
Abstract Female hypogonadism (FH) is a relatively common endocrine disorder in women of premenopausal age, but there are significant uncertainties and wide variation in its management. Most current guidelines are monospecialty and only address premature ovarian insufficiency (POI); some allude to management in very brief and general terms, and most ...
Channa N. Jayasena, Kerri Devine, Katie Barber, Alexander N. Comninos, Gerard S. Conway, Anna Crown, Melanie C. Davies, Ann Ewart, Leighton J. Seal, Arlene Smyth, Helen E. Turner, Lisa Webber, Richard A. Anderson, Richard Quinton   +13 more
wiley   +1 more source