Dysgerminoma in a 15 years old phenotypically female Swyer syndrome with 46, <scp>XY</scp> pure gonadal dysgenesis: A case report

Ganjooei, Tahereh Ashraf; Pirastehfar, Zanbagh; Mosallanejad, Asieh; Raoufi, Masoomeh; Moghaddam, Noushin Afshar; Hashemieh, Mozhgan

doi:10.1002/ccr3.6083

Clinical Case Reports

2022

DOI: 10.1002/ccr3.6083

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Dysgerminoma in a 15 years old phenotypically female Swyer syndrome with 46, XY pure gonadal dysgenesis: A case report

Tahereh Ashraf Ganjooei

Zanbagh Pirastehfar

Asieh Mosallanejad

et al.

Abstract: Swyer syndrome is a 46, XY karyotype, with pure gonadal dysgenesis and primary amenorrhea. These females have primordial Mullerian structures and seek medical attention as they experience primary amenorrhea. Here, we report a 15-year-old girl, diagnosed as Swyer syndrome associated with left ovarian dysgerminoma.

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2023

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Swyer syndrome: a rare cause of primary amenorrhea

Sandilya,

Jha

2023

J Rare Dis

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Purpose Swyer syndrome is one of the rare causes for disorders of sexual development. Case report An 18-year-old girl presented with complaints of inability to attain menarche. Physical examination revealed underdeveloped breast with absent pubic and axillary hair; however, the vagina was well canalized. Her hormonal profile was of hypergonadotropic hypogonadism. USG and MRI demonstrated hypoplastic uterus with very small ovaries. Chromosomal analysis reported 46 XY genetic makeup. Given the higher risk of malignancy in dysgenetic gonads, the patient underwent laparoscopic gonadectomy and had been put on hormone replacement therapy. Conclusion Swyer syndrome, though a very rare entity, should be kept in mind while evaluating primary amenorrhea. Gonadectomy should be performed early once diagnosis is made to avoid the risk of malignancy.

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Swyer syndrome: a rare cause of primary amenorrhea

Sandilya,

Jha

2023

J Rare Dis

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Dysgerminoma in a 15 years old phenotypically female Swyer syndrome with 46, XY pure gonadal dysgenesis: A case report

Cited by 1 publication

References 20 publications

Swyer syndrome: a rare cause of primary amenorrhea

Swyer syndrome: a rare cause of primary amenorrhea

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