Swyer syndrome


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Swyer syndrome

(swī'ĕr),
gonadal dysgenesis in phenotypic females with XY genotype.

Swyer syndrome

(swī'ĕr),
gonadal dysgenesis in phenotypic females with XY genotype.

Swyer syndrome

A condition (OMIM:400044) characterised by male-to-female sex reversal in the presence of a normal 46,XY karyotype. The (male) gonads undergo rapid and early degeneration, which appear in the adult as “streak gonads” consisting mainly of fibrous tissue and ovarian stroma; the patients do not develop secondary sexual characteristics at puberty. Their external genitalia is completely female, and Müllerian structures are normal.

Molecular pathology
Defects of SRY, which encodes testis-determining factor, cause Swyer syndrome.

Swy·er syn·drome

(swī'ĕr sin'drōm)
Gonadal dysgenesis in phenotypic females with XY genotype.
References in periodicals archive ?
(2) Swyer syndrome should be included in the differential diagnosis of complete androgen insensitivity syndrome (CAIS) and 17a-hydroxylase deficiency syndrome, which also present with a 46XY karyotype.
A unique consideration in patients with dysgerminoma or choriocarcinoma is the possible diagnosis of XY gonadal dysgenesis, or Swyer syndrome. (14,15) This may be seen in young girls with female external genitalia and primary amenorrhea.
Malignant germ cell tumors associated with Swyer Syndrome. Pediatr Blood Cancer.
Simple 46,XY gonadal dysgenesis, also called Swyer syndrome, is a very rare condition, and has been estimated to occur in approximately 1/100 000 people.
Dysgerminoma in three patients with Swyer syndrome. World J Surg Oncol 2007;5(1):71-75.
reversal cases, whether due to AIS or Swyer syndrome or another DSD,
Laparoscopic removal of dysgenetic gonads containing a gonadoblastoma in a patient with Swyer syndrome. Obstet Gynecol 1992, 79:842-844.
(107) In Swyer syndrome, (108) also referred to as 46,XY pure gonadal dysgenesis, individuals have a female phenotype with unambiguously female genitalia at birth, normal mullerian structures, and presentation associated with primary amenorrhea.
Intestinal invasion by a dysgerminoma in a patient with Swyer syndrome. Obstet Gynecol 1992;80:567-8.
Fertilization of an egg by sperm containing a Y chromosome without SRY creates an XY embryo, which develops as a female (called the Swyer syndrome, occurrence 1:100,000).
Identification of a new mutation in the SRY gene in a 46, XY woman with Swyer syndrome. Fertil Steril 2009;91:932.e7-11.
The testis, the source of anti-Mullerian hormone, is not present in Swyer syndrome.