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Swyer syndrome presenting as primary infertility [PDF]
, 2017 Swyer syndrome was first described by Jim Swyer in 1955. It is a form of “Pure gonadal dysgenesis”. The affected female has 46, XY karyotype. A 21 year old married female came with complaints of primary infertility.
Chauhan, Nidhi +2 more
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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
doaj +1 more source
Journal of Medical Case Reports, 2010 Introduction Invasive and semi-invasive pulmonary aspergillosis usually occurs in immunocompromised patients. It has been described occasionally in patients with normal immunity and previous lung disease such as chronic obstructive pulmonary disease ...
Semedo Júlio ANMQ +5 more
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Breathing With Half a Pulmonary Circuit: Three Cases of Unilateral Pulmonary Artery Agenesis
Respirology Case Reports, Volume 13, Issue 7, July 2025.We present three cases of unilateral pulmonary artery atresia (UPAA) with varying clinical presentations and radiological findings, highlighting the diverse manifestations of this rare condition and discussing the current understanding of its pathophysiology, diagnostic approaches, and management strategies. ABSTRACT Unilateral pulmonary artery atresia
Vignesh Kumar Kathiresan +2 more
wiley +1 more source
Indian Journal of Gynecologic OncologySwyer syndrome is a disorder of sexual development (DSD) where affected persons have XY chromosomal makeup but have female internal genitalia. We report a 25-year-old married woman who presented with incomplete staging for ovarian mass and primary ...
Upasana Baruah +4 more
semanticscholar +1 more source
Genomic technologies and the diagnosis of 46, XY differences of sex development
Andrology, Volume 13, Issue 5, Page 1025-1043, July 2025.Abstract Differences/disorders of sex development can be caused by disruptions to the molecular and cellular mechanisms that control development and sex determination of the reproductive organs with 1:100 live births affected. Multiple genes are associated with 46, XY differences/disorders of sex development that can cause varying clinical phenotypes ...
Firman Idris +2 more
wiley +1 more source
Swyer-James-MacLeod Syndrome in a Patient with Eisenmenger Syndrome
Swyer-James-MacLeod syndrome is characterized radiologically by hyperlucency in a single lung lobe, accompanied by reduced vascularity, alveolar hyperdistention, and air trapping, without bronchial airway obstruction.
Oğuz, M. +4 more
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Swyer Syndrome with Gonadoblastoma: A Case Report
Journal of Histopathology and CytopathologyThese patients have female external phenotype and usually presented with primary amenorrhea.Detailed history, clinical, radiological and hormonal evaluation, karyotyping and histopathologyare needed for diagnosis.
Ahmend Tb, H. Me, Huq N
semanticscholar +1 more source
Swyer–James Syndrome: Demonstration By 64-Slice 3D Mdct Angiography And Coronal Mpr Ct Imaging [PDF]
, 2009 The 64-slice three dimensional (3D) multidetector computed tomography (MDCT) angiography and high resolution coronal multiplanar reformation (MPR) computed tomography (CT) images in inspiration and expiration were performed in a patient suspected of ...
Paksoy, Yahya +6 more
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Rare case of complete gonadal dysgenesis 46 XY, Swyer syndrome [PDF]
, 2017 Swyer syndrome also known as 46XY complete gonadal dysgenesis is a rare cause of primary amenorrhea. These patients are phenotypically females with female type of internal and external genitalia with absence of testicular tissues. They have streak gonads
Arun Muthuvel +7 more
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