Dysgerminoma in a case of 46, XY pure gonadal dysgenesis (swyer syndrome): a case report [PDF]
Diagnostic Pathology, 2011 Simple 46, XY gonadal dysgenesis syndrome, also called Swyer syndrome, is known as pure gonadal dysgenesis. Individuals with the syndrome are characterized by 46, XY karyotype and phenotypically female with female genital appearance, normal Müllerian ...
He Anguang +5 more
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Tenuous Transcriptional Threshold of Human Sex Determination. I. SRY and Swyer Syndrome at the Edge of Ambiguity [PDF]
Front Endocrinol (Lausanne), 2022 Male sex determination in mammals is initiated by SRY, a Y-encoded transcription factor. The protein contains a high-mobility-group (HMG) box mediating sequence-specific DNA bending. Mutations causing XY gonadal dysgenesis (Swyer syndrome) cluster in the
Yen-Shan Chen, Joseph D. Racca, M. Weiss
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Unanticipated diagnosis of Swyer syndrome: a case report [PDF]
Ann Med Surg (Lond)Introduction and importance: Swyer syndrome or complete/pure gonadal dysgenesis, a rare genetic disorder, presents with a female phenotype despite a 46, XY karyotype.
K. Giri +3 more
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Characterisation of eight cattle with Swyer syndrome by whole-genome sequencing. [PDF]
Animal Genetics, 2022 Swyer syndrome is where an individual has the karyotype of a typical male yet is phenotypically a female. The lack of a (functional) SRY gene located on the Y-chromosome is implicated in some cases of the Swyer syndrome, although many Swyer individuals ...
D. Berry +9 more
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A Successful New Case of Twin Pregnancy in a Patient with Swyer Syndrome—An Up-to-Date Review on the Incidence and Outcome of Twin/Multiple Gestations in the Pure 46,XY Gonadal Dysgenesis [PDF]
Int J Environ Res Public Health, 2022 Background: The aim of the present study is to report a rare occurrence of a successful twin pregnancy in a woman with pure 46,XY gonadal dysgenesis. Result(s): A patient with Swyer syndrome (pure 46,XY gonadal dysgenesis) presented with a twin pregnancy
I. Winkler +7 more
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Swyer syndrome: The gender swayer? [PDF]
Alexandria Journal of Medicine, 2017 46XY complete gonadal dysgenesis (SWYER SYNDROME) is a rare type of Disorder of Sex Development. Herein we report a 15 years-old child, reared as female, presented with complaints of primary amenorrhoea, without short stature or Turner’s stigmata ...
Jaideep Khare +3 more
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Clinical Presentation and Management of Swyer Syndrome: A Case Report [PDF]
CureusA pure 46, XY gonadal dysgenesis, or Swyer syndrome, is an extremely rare condition causing primary amenorrhea. It is distinguished by the existence of a female phenotype with a 46, XY karyotype.
Y. Errahali +4 more
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SAT422 Gender Affirming Hormone Therapy in a Non-Binary Individual with Swyer Syndrome [PDF]
J Endocr Soc, 2023 Disclosure: J.M. Yohannan: None. T. Reisman: None. Background: Swyer syndrome is a rare genetic disorder of sexual development. Patients with Swyer syndrome require physiologic hormone replacement congruent with their gender identity in order to prevent ...
Jiby Yohannan, Tamar Reisman
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Swyer–James–Macleod syndrome mimicking pulmonary embolism in adults: a case report
Journal of Medical Case ReportsBackground Swyer–James–MacLeod syndrome (SJMS) is a rare lung condition characterized by a unilateral lung hyperlucency and reduction in the pulmonary vasculature, with or without the presence of bronchiectasis.
Girma Deshimo Lema +4 more
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Congenital Absence of the Left Pulmonary Artery Associated With Right‐Sided Aortic Arch Presenting as Hemoptysis in an Adult: A Case Report [PDF]
Clinical Case Reports, Volume 14, Issue 9, September 2026.ABSTRACT Congenital unilateral absence of the pulmonary artery is a rare vascular anomaly that may remain undiagnosed until adulthood. Patients can present with unexplained hemoptysis, recurrent respiratory infections, or pulmonary hypertension. Contrast‐enhanced CT plays a crucial role in diagnosis, evaluation of collateral circulation, and guiding ...
Tayyaba Kauser +6 more
wiley +2 more sources