ALLMedicine™ Swyer Syndrome Center
Research & Reviews 79 results
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7342828
BMJ Case Reports; Alam S, Boro H et. al.
Jul 9th, 2020 - Complete gonadal dysgenesis (CGD) or Swyer syndrome is characterised by sexual infantilism in a phenotypic female with 46, XY karyotype. Patients with gonadal dysgenesis and Y-chromosome material are at a high risk of developing gonadoblastoma and...
https://doi.org/10.1210/clinem/dgaa404
The Journal of Clinical Endocrinology and Metabolism; Coelingh Bennink HJT, Egberts JFM et. al.
Jun 30th, 2020 - We have searched the literature for information on the risk of breast cancer (BC) in relation to gender, breast development, and gonadal function in the following 8 populations: 1) females with the Turner syndrome (45, XO); 2) females and males wi...
https://doi.org/10.1016/j.jpag.2020.06.008
Journal of Pediatric and Adolescent Gynecology; Chand MT, Turner S et. al.
Jun 22nd, 2020 - Swyer syndrome is a difference of sex development that is typically associated with mutations in genes responsible for testicular development. It is speculated that some cases may result from cryptic 45,X/46,XY mosaicism leading to abnormal gonada...
https://doi.org/10.1016/j.jpag.2020.04.007
Journal of Pediatric and Adolescent Gynecology; Bumbulienė Ž, Varytė G et. al.
May 7th, 2020 - Complete 46XY gonadal dysgenesis (Swyer syndrome) is a rare and challenging diagnosis among prepubertal girls, as estrogen insufficiency becomes evident only during adolescence, with nonspecific symptoms such as primary amenorrhea and/or delayed p...
https://doi.org/10.1016/j.jpag.2019.07.007
Journal of Pediatric and Adolescent Gynecology; Dural O, Evruke I et. al.
Jul 29th, 2019 - Swyer syndrome is a rare type of disorder of sex development and typically presents with delayed puberty and primary amenorrhea. We describe an unusual presentation of this condition. A 17-year-old female patient with typical thelarche and adrenar...
Clinicaltrials.gov 83 results
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7342828
BMJ Case Reports; Alam S, Boro H et. al.
Jul 9th, 2020 - Complete gonadal dysgenesis (CGD) or Swyer syndrome is characterised by sexual infantilism in a phenotypic female with 46, XY karyotype. Patients with gonadal dysgenesis and Y-chromosome material are at a high risk of developing gonadoblastoma and...
https://doi.org/10.1210/clinem/dgaa404
The Journal of Clinical Endocrinology and Metabolism; Coelingh Bennink HJT, Egberts JFM et. al.
Jun 30th, 2020 - We have searched the literature for information on the risk of breast cancer (BC) in relation to gender, breast development, and gonadal function in the following 8 populations: 1) females with the Turner syndrome (45, XO); 2) females and males wi...
https://doi.org/10.1016/j.jpag.2020.06.008
Journal of Pediatric and Adolescent Gynecology; Chand MT, Turner S et. al.
Jun 22nd, 2020 - Swyer syndrome is a difference of sex development that is typically associated with mutations in genes responsible for testicular development. It is speculated that some cases may result from cryptic 45,X/46,XY mosaicism leading to abnormal gonada...
https://doi.org/10.1016/j.jpag.2020.04.007
Journal of Pediatric and Adolescent Gynecology; Bumbulienė Ž, Varytė G et. al.
May 7th, 2020 - Complete 46XY gonadal dysgenesis (Swyer syndrome) is a rare and challenging diagnosis among prepubertal girls, as estrogen insufficiency becomes evident only during adolescence, with nonspecific symptoms such as primary amenorrhea and/or delayed p...
https://reference.medscape.com/viewarticle/923606_4
Jan 13th, 2020 - The differential diagnoses based on an XY karyotype in a phenotypic female, such as in our patient, include complete androgen insensitivity, 5-alpha reductase deficiency, and Swyer syndrome. Individuals with complete androgen insensitivity present...
News 2 results
https://reference.medscape.com/viewarticle/923606_4
Jan 13th, 2020 - The differential diagnoses based on an XY karyotype in a phenotypic female, such as in our patient, include complete androgen insensitivity, 5-alpha reductase deficiency, and Swyer syndrome. Individuals with complete androgen insensitivity present...
https://reference.medscape.com/viewarticle/923606_5
Jan 13th, 2020 - Patients with Swyer syndrome are started on hormone replacement therapy, which induces menses, increases the size of the uterus, and aids in the prevention of osteoporosis. There is an incidence of 10%-30% of germ cell tumors in patients who have ...