A case of primary amenorrhea with swyer syndrome [PDF]
Journal of Human Reproductive Sciences, 2017 Swyer syndrome with complete gonadal dysgenesis is associated with an absence of testicular differentiation in a phenotypic female with a 46, XY karyotype. A 14-year-old unmarried girl was referred with complaints of primary amenorrhea and nondevelopment
Pritti K Priya +3 more
doaj +5 more sources
A Risk of Gonadoblastoma in Familial Swyer Syndrome—A Case Report and Literature Review [PDF]
Journal of Clinical MedicineA complete gonadal dysgenesis (CGD) with 46,XY karyotype is known as the Swyer syndrome and belongs to the group of 46,XY differences of sex development (DSD). The main problem in patients with Swyer syndrome is the delayed puberty and primary amenorrhea.
Krystian Jażdżewski +2 more
exaly +4 more sources
Swyer-James syndrome in a 7-year-old female
Pediatric Reports, 2016 Swyer-James syndrome is a rare syndrome that occurs as a result of repeated bronchiolitis and pneumonitis in childhood. Most cases are asymptomatic, and subsequent diagnosis may not occur until adulthood.
Jun Mori +5 more
doaj +4 more sources
46, XY Complete Gonadal Dysgenesis (Swyer Syndrome) Presenting as Primary Amenorrhea in a Normomorphic Adult Female From Kakamega, Kenya [PDF]
Clinical Case Reports, Volume 13, Issue 1, January 2025.Differences/disorders of sex development (DSDs) are a diverse group of congenital conditions that result in disagreement between an individual's sex chromosomes, gonads, and/or anatomical sex.
Christian Omoaghe
semanticscholar +3 more sources
Dysgerminoma and gonadoblastoma in the course of Swyer syndrome [PDF]
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
doaj +6 more sources
A rare case of Swyer syndrome from Pakistan in a young girl with primary amenorrhea and 46XY genotype [PDF]
Women's Health, 2023 Swyer syndrome is a condition where individuals with a 46XY karyotype, typically associated with males, display complete gonadal dysgenesis and lack testicular differentiation.
Inshal Jawed +5 more
doaj +3 more sources
Stage IIIC Bilateral Dysgerminoma in 46,XY Swyer Syndrome: Preventing Malignancy Through Early Endocrine Evaluation of Primary Amenorrhea [PDF]
Clin Case RepKey Clinical Message Primary amenorrhea requires systematic endocrine evaluation before empirical hormonal therapy. In adolescents with hypergonadotropic hypogonadism, prompt karyotype analysis is essential to identify 46,XY complete gonadal dysgenesis ...
C. Elendu +4 more
semanticscholar +3 more sources
The Mysteries of Primary Amenorrhea: Swyer Syndrome [PDF]
Cureus, 2022 Swyer syndrome is a hereditary condition seen in a few patients who present with primary amenorrhea, characterized by 46 XY and the presence of female internal genital tract and bilateral streak gonads in a female phenotype.
Srinidhi Cherukuri +3 more
semanticscholar +4 more sources
Rare presentations of Swyer syndrome in a 13.5-year-old female; a case report and literature review [PDF]
BMC PediatricsBackground Swyer syndrome (SS), or 46, XY pure gonadal dysgenesis, is a rare disorder of sex development. It typically presents with primary amenorrhea and an absence of secondary sexual characteristics.
Alireza Sadeghi +4 more
doaj +3 more sources
Advanced‐Stage Gonadal Dysgerminoma in a Patient With a Previous Diagnosis of Familial Swyer Syndrome: A Very Rare Genetic Entity [PDF]
Case Reports in Medicine, Volume 2026, Issue 1, 2026.Introduction Swyer syndrome is a genetic abnormality characterized by a 46,XY karyotype in a phenotypically female individual. Affected individuals typically have average or tall stature, unambiguous genitalia at birth, the presence of Müllerian ...
Süleyman Cemil Oğlak +9 more
semanticscholar +3 more sources