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.
Malignant germ cell tumors associated with Swyer Syndrome.
Despite having XY chromosomes, the patient with Swyer syndrome appears female and has functional female genitalia and structures, including a vagina, uterus and fallopian tubes.
Dysgerminoma in three patients with Swyer syndrome.
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.
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.
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.
The testis, the source of anti-Mullerian hormone, is not present in Swyer syndrome.