Results 41 to 50 of about 1,355 (166)

Swyer syndrome with malignant germ cell tumor: a case report

open access: yesThe Egyptian Journal of Radiology and Nuclear Medicine, 2021
Background Swyer syndrome (Pure gonadal dysgenesis, 46 XY) is a rare form of disorder of sexual development. These patients presented with external female phenotype, normal Mullerian structures and streak gonads.
Soha Talaat Hamed   +1 more
doaj   +1 more source

Successful pregnancy outcome in Swyer-James-Macleod syndrome

open access: yesAnnals of Thoracic Medicine, 2008
Swyer-James-MacLeod (SJM) syndrome is a chronic, progressive lung disease as a result of infection and bronchial obstruction that ultimately leads to emphysema.
Chopra Seema   +3 more
doaj   +1 more source

Atypical Swyer Syndrome Presenting with Spontaneous Breast Development and Secondary Amenorrhea

open access: yesFertility & Reproduction, 2022
46, XY pure gonadal dysgenesis (Swyer syndrome) is usually presented as sexual infantilism with delayed puberty and primary amenorrhea. Rarely, patients can present with spontaneous breast development and/or menstruation.
Joon Cheol Park
doaj   +1 more source

Dysgerminoma presenting at fifty, consequence to undiagnosed Swyer syndrome

open access: yes, 2021
Swyer syndrome or XY complete gonadal dysgenesis (CGD) is a rare disorder of sex development (DSD) characterized by presence of dysgenetic gonads in a phenotypically female patient with a male karyotype.
Amin, Sapna Vinit, Kumaran, Aswathy
core   +1 more source

Swyer Syndrome in Phenotypic Female with 46,XY Karyotype [PDF]

open access: yesJournal of Clinical and Diagnostic Research, 2018
Individuals with Swyer syndrome have an XY karyotype and are phenotypically female. The prevalence of Swyer Syndrome is about 1 in 30,000 and it is an extremely rare condition.
D Prashanth Shetty   +3 more
doaj   +1 more source

Challenges in the Diagnosis of XY Differences of Sexual Development

open access: yesMedicina, 2022
Background: We report the clinical case of female patient with 46,XY difference of sexual development (DSD) and discuss the challenges in the differential diagnosis between complete gonadal dysgenesis (also called Swyer syndrome) and complete androgen ...
Žana Bumbulienė   +5 more
doaj   +1 more source

Swyer syndrome: A rare case

open access: yesBangabandhu Sheikh Mujib Medical University Journal, 2023
not available Bangabandhu Sheikh Mujib Medical University Journal 2023;16(2): 128 ...
Hema Kumari Pradhan   +2 more
doaj   +1 more source

Bilateral Germ cell tumours in a patient with Swyer Syndrome

open access: yesSri Lanka Journal of Diabetes Endocrinology and Metabolism, 2018
Swyer syndrome, or pure gonadal dysgenesis is a medical condition associated with 46 XY karyotype and primary amenorrhoea in a phenotypic female. In this syndrome, there is an abnormality in testicular differentiation.
M. Weerakkody   +3 more
doaj   +1 more source

Cross Sectional Study of Prenatal Diagnosis Uptake Among Individuals With Genetic Conditions

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective Prenatal diagnostic genetic testing allows for early identification of significant fetal conditions and enables informed decision‐making regarding management options. The aim of this study was to assess prenatal testing practice among individuals with genetic conditions.
Ebunoluwa Ojo   +4 more
wiley   +1 more source

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