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Rare case of complete gonadal dysgenesis in a female patient with primary amenorrhea and a 46XY karyotype

Key Clinical Message A comprehensive diagnostic approach is crucial for patients with primary amenorrhea and short stature. Karyotyping and imaging studies help to detect hidden chromosomal abnormalities and anatomical differences, emphasizing their value in this context. Abstract A 16‐year‐old girl...

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Asıl Yazarlar: Nurbek Monolov, Ulbolsun Nurbekova, Elmira Mamytova, Abdurashid Unusov, Meerim Osmonova, Meerim Makambaeva, Yethindra Vityala, Tugolbai Tagaev
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Wiley 2024-08-01
Seri Bilgileri:Clinical Case Reports
Konular:
gonadal dysgenesis
karyotype 46, XY
primary amenorrhea
Swyer syndrome
uterine hypoplasia
Online Erişim:https://doi.org/10.1002/ccr3.9318
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