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Jun 7, 2019 · Abtsract. SWYER syndrome or pure gonadal dysgenesis is a disease in which individuals with a female phenotype, with female external genital organs, have a 46 XY karyotype and streak gonads that ought to be removed given their high malignization potential. We present the case of a patient with Swyer syndrome, and compare them with other cases of ...
- Karine F. Meyer, Luiz G. Freitas Filho, Karina I. Silva, Pedro A. Trauzcinsky, Cristina Reuter, Mari...
- 10.1016/j.eucr.2019.100939
- 2019
- Urol Case Rep. 2019 Sep; 26: 100939.
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Is Swyer syndrome a disorder of sex development?
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Does Swyer syndrome have a 46 XY karyotype?
Sep 18, 2019 · Swyer syndrome is a rare disorder characterized by the failure of the sex glands (i.e., testicles or ovaries) to develop. Swyer syndrome is classified as a disorder of sex development (DSD), which encompasses any disorder in which chromosomal, gonadal or anatomic sex development is abnormal. Girls with Swyer syndrome have an XY chromosomal ...
Swyer syndrome is also called 46,XY complete gonadal dysgenesis; the medical term “dysgenesis” means "abnormal development." Because they appear female on the outside, babies with Swyer syndrome are usually raised as girls and develop a female gender identity, which is a person's sense of their gender (girl, boy, a combination, or neither).
Aug 19, 2022 · Swyer syndrome is an uncommon disease that causes primary amenorrhea in women. Swyer syndrome patients have a female genital morphology and are phenotypically female. In clinical terms, these women have a 46 XY karyotype, impaired sexual development, and primary amenorrhea. Because of insufficient pubertal development, 46 XY gonadal dysgenesis ...
- 10.7759/cureus.28170
- 2022/08
- Cureus. 2022 Aug; 14(8): e28170.
Oct 18, 2016 · Swyer syndrome is a rare disorder of sex development (DSD) which encompasses any disorders in which chromosomal, gonadal or anatomic sex development is abnormal. It is characterized by the failure of the sex glands (i.e. testicles or ovaries) to develop. The National Organization for Rare Disorders (NORD) classifies Swyer syndrome as 46 gonadal ...
Jul 12, 2023 · Swyer syndrome—a rare syndrome associated with complete gonadal dysgenesis—is seen in phenotypically female patients with 46-XY karyotype [1]. They usually present with primary amenorrhea or delayed puberty. The pathogenesis of this condition includes mutation in the DNA binding site of SRY gene present on Y chromosome, which plays a ...