Dysgerminoma with a Somatic Exon 17 <i>KIT</i> Mutation and SHH Pathway Activation in a Girl with Turner Syndrome

Dysgerminoma with a Somatic Exon 17 <i>KIT</i> Mutation and SHH Pathway Activation in a Girl with Turner Syndrome

This article reports a case of a 7-year-old girl with Turner syndrome, treated with growth hormone (GH), who developed ovarian dysgerminoma. The patient karyotype was mosaic for chromosome Xq deletion: 46,X,del(X)(q22)/45,X. No Y chromosome sequences were present. Molecular studies revealed the pres...

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Bibliographic Details
Main Authors: Ada Gawrychowska, Ewa Iżycka-Świeszewska, Beata S. Lipska-Ziętkiewicz, Dominika Kuleszo, Joanna Bautembach-Minkowska, Marcin Łosin, Joanna Stefanowicz
Format: Article
Language:English
Published: MDPI AG 2020-12-01
Series:Diagnostics
Subjects:
Turner syndrome
somatic exon 17 KIT mutation
growth hormone treatment
dysgerminoma
HH signaling
Online Access:https://www.mdpi.com/2075-4418/10/12/1067

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