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Cureus
Article . 2022 . Peer-reviewed
Data sources: Crossref
Cureus
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The Mysteries of Primary Amenorrhea: Swyer Syndrome

Authors: Cherukuri, Srinidhi; Jajoo, Shubhada S; Dewani, Deepika; Andela, Manisha;

The Mysteries of Primary Amenorrhea: Swyer Syndrome

Abstract

Swyer syndrome is a hereditary condition seen in a few patients who present with primary amenorrhea, characterized by 46 XY and the presence of female internal genital tract and bilateral streak gonads in a female phenotype. A 25-year-old lady presented with primary amenorrhea. After the evaluation, she was diagnosed with Swyer syndrome due to a mutation in the SRY gene, leading to failure of testicular development. The clinical presentation was that of a female phenotype with no secondary sexual characteristics. On physical examination, she had a female phenotype with a short vagina and no secondary sexual characteristics. The MRI revealed a hypoplastic uterus with both fallopian tubes but with streak gonads. The patient's genotype was found to be 46 XY after genetic testing. The streak gonads were removed laparoscopically due to the future risk of gonadoblastoma, and the patient was given hormone replacement therapy (HRT). The patient started menstruating after six months of HRT and has been developing secondary sexual characteristics (Tanner stage II) till now.

Keywords

Genetics

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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
2
Average
Average
Average
Green