Results 41 to 50 of about 1,355 (166)
Swyer syndrome with malignant germ cell tumor: a case report
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
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
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
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]
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
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
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
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
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

