Phenotypic Variation in 46,XX Disorders of Sex Development due to the Fourth Zinc Finger Domain Variant of WT1: A Familial Case Report

Shizuka Kirino, Analia Yogi, Eriko Adachi, Hisae Nakatani, Maki Gau, Ryosei Iemura, Haruki Yamano, Toru Kanamori, Takayasu Mori, Eisei Sohara, Shinichi Uchida, Kentaro Okamoto, Tomohiro Udagawa, Kei Takasawa, Tomohiro Morio, Kenichi Kashimada

doi:10.1159/000529720

Phenotypic Variation in 46,XX Disorders of Sex Development due to the Fourth Zinc Finger Domain Variant of WT1: A Familial Case Report

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<jats:p>Introduction: The variants in the zinc finger (ZF) domains 1–3 in WT1 are one of the major causes of 46,XY disorders of sex development (DSD). Recently, variants in the fourth ZF (ZF4 variants) were reported to cause 46,XX DSD. However, all the 9 patients reported were de novo, and no familial cases were identified. Case Presentation and Results: The proband (16-year-old social female) had a 46,XX karyotype with dysplastic testes and moderate virilization in genitalia. A ZF4 variant, p.Arg495Gln, in WT1 was identified in the proband, her brother, and mother. The mother did not show any virilization with normal fertility, and the 46,XY brother developed normal puberty. Conclusion: The phenotypic variations due to the ZF4 variant are extremely broad in 46,XX cases. </jats:p>

Phenotypic Variation in 46,XX Disorders of Sex Development due to the Fourth Zinc Finger Domain Variant of WT1: A Familial Case Report

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Phenotypic Variation in 46,XX Disorders of Sex Development due to the Fourth Zinc Finger Domain Variant of WT1: A Familial Case Report

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