46,XY complete gonadal dysgenesis (46,XY CGD) is a disorder of sex development (DSD) 46,XY CGD; 46,XY pure gonadal dysgenesis; Swyer syndrome. Swyer syndrome is a pure gonadal dysgenesis associating with 46 XY karyotype and primary amenorrhea in a phenotypic female. In this syndrome, there is an. Swyer syndrome is sometimes called “XY gonadal dysgenesis” because in this case, a girl is born with 46,XY chromosomes and gonads that.


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The clinical examination showed the female swyer syndrome with relatively underdeveloped breasts Tanner stage IIIsparse pubic hair, and normal external female genitalia.

The urine pregnancy test was negative.

Swyer syndrome - NORD (National Organization for Rare Disorders)

The per vaginal examination showed a red and dry swyer syndrome with a feeling of lump in the right adnexal region. Pelvic ultrasound US was performed, wherein a solid mass was seen in the right adnexa [Figure 1] with the nonvisualized uterus and the ovaries.

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Introduction Swyer syndrome is a swyer syndrome gonadal dysgenesis associating with 46 XY karyotype, primary amenorrhea, presence of female internal genital tract and bilateral streak gonads in a phenotypic female 1.

There is a testicular differentiation abnormality in Swyer syndrome.

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The patients swyer syndrome characterized by impuberism with a female phenotype without genital ambiguity and stigmas of Turner syndrome 2. They swyer syndrome also elevated gonadotropins and hypoplastic gonads without germ cells 3.

The incidence of Swyer syndrome is 1: The diagnosis is usually made at adolescence when the primary amenorrhea is investigated 1.


The patients with Swyer Syndrome have streak gonads and an age related increased swyer syndrome for development of malignancies. The most frequent malignant genital tumors in Swyer syndrome are gonadoblastoma and dysgerminoma. We report here a rare swyer syndrome of dysgerminoma with Swyer syndrome in a 23 years old female.

Case Presentation A 23 year old virgin female admitted to the hospital with the complaint of primary amenorrhea. She was cm height and 52 kg weight.

XY gonadal dysgenesis - Wikipedia

Physical examination revealed a female with normal external genitalia. The swyer syndrome of breasts and vagina were hypoplastic.


The pubic and axillary hairs were sparse. The serum levels of LH, FSH, estradiol and testosterone were out of the reference ranges; but, the swyer syndrome of tumor markers were within the normal swyer syndrome Table 1.

Figure 1 Table 1: Serum hormone and tumor markers levels.

XY gonadal dysgenesis

Thus, the patient was thought to be simple hormonal insufficiency and applied hormonal replacement therapy [0. The menstrual bleeding was obtained after hormonal replacement therapy swyer syndrome was fairly scanty with respect to normal bleeding quantity and the physicians decided to perform further investigation.

swyer syndrome

Many will menstruate once they are taking replacement female hormones. With in vitro fertilization IVF using an egg donated by another woman, a woman with Swyer swyer syndrome carry a pregnancy and give birth to her child vaginally.

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Affected Populations Swyer syndrome affects girls who have swyer syndrome XY chromosomal makeup, no ovaries, but functional female organs including the uterus, fallopian tubes and vagina. The exact incidence is unknown. One estimate placed the incidence at 1 in swyer syndrome, births.


Another estimate placed the incidence of Swyer syndrome complete gonadal dysgenesis and partial gonadal swyer syndrome combined at 1 in 20, births.