Swyer Syndrome: Clinical Case of Gonadal Dysgenesis in a 15-year-old Girl
Педиатрическая фармакологияSwyer syndrome is a rare genetic disorder in which gonadal dysgenesis and karyotype 46, XY are observed. In the postnatal and prepubescent period, this disease has no clinical manifestations and is asymptomatic, which makes diagnosis difficult. The first
Irina V. Karachentsova +7 more
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Canine ovarian gonadoblastoma with dysgerminoma overgrowth: a case study and literature review
Journal of Ovarian Research, 2019 Background Gonadoblastoma (GB) is a rare mixed germ cell-sex cord-stromal tumour, first described in humans, commonly found in dysgenetic gonads of intersex patients that have a Y chromosome.
Ana R. Flores +8 more
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Molecular Cancer, 2009 Background RNF139/TRC8 is a potential tumor suppressor gene with similarity to PTCH, a tumor suppressor implicated in basal cell carcinomas and glioblastomas.
Fiorio Patrizia +9 more
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PTEN hamartoma tumor syndromes in childhood: description of two cases and a proposal for follow-up protocol [PDF]
, 2013 PTEN hamartoma tumor syndromes (PHTS) are a spectrum of hamartomatous overgrowth syndromes associated with germline mutations in the tumor suppressor PTEN gene located on 10q23.3.
Antona, V +5 more
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Dysgerminoma and gonadoblastoma in the course of Swyer syndrome
Polish Journal of Pathology, 2017 We present a case of a woman with primary amenorrhea. Ultrasound imaging showed a uterus of normal size but bands of connective tissues at the site of ovaries. A genetic test was done which revealed the XY karyotype. Swyer syndrome was diagnosed.
Tomasz Milewicz +9 more
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Unilateral abducens nerve palsy: A presenting sign of sphenoid sinus mucocoeles [PDF]
, 1997 Sphenoid sinus mucocoeles can stimulate a variety of pathological conditions and patients can present to a range of specialists. Because of the relative rarity of sphenoid sinus mucocoeles, diagnosis is often delayed and these lesions can progressively ...
Jones, NS, Muneer, A
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A Bilateral Dysgerminoma: A Rare Presentation of the Swyer Syndrome [PDF]
, 2005 peer reviewedSwyer syndrome is a pure gonad dysgenesis associating 46 XY karyotype, primary amenorrhea, presence of female internal genital tract and bilateral streak gonads in a phenotypic female.
Claudot, A. +5 more
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Study of germ cell tumors of ovary and associated immunohistochemistry [PDF]
Journal of Clinical and Basic ResearchBackground: Females have a 6–7% lifetime risk of developing ovarian tumors. Ovarian cancer is often termed a “silent killer” due to its frequent diagnosis at advanced stages.
Devunoori Sagarika +6 more
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One stop centre staging by contrast-enhanced 18F-FDG PET/CT in preoperative assessment of ovarian cancer and proposed diagnostic imaging algorithm: a single centre experience in Malaysia [PDF]
, 2017 Introduction: Suspicious adnexal masses need to be investigated thoroughly as it may represent ovarian cancer, which is the fourth most common gynaecological cancer in Malaysia.
Abu Hassan, Hasyma +7 more
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A Case of Azoospermia Patient with a Chromosomal Abnormality Considered a Ring Y Chromosome [PDF]
, 2014 A 43-year-old man came to our clinic complaining of infertility and semen analysis showed azoospermia. Analysis of chromosomes showed a mosaic 45, XO/46, X, ＋mar1/46, X, ＋mar2 karyotype, and the marker chromosomes were considered to be two kinds of ring ...
三條, 博之 +10 more
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