Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation · 2023
Phenotypic Variation in 46,XX Disorders of Sex Development due to the Fourth Zinc Finger Domain Variant of WT1: A Familial Case Report.
Клинический случайНовостьНазвание и аннотация: Перевод в очереди
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Kirino Shizuka, Yogi Analia, Adachi Eriko, Nakatani Hisae, Gau Maki, Iemura Ryosei, Yamano Haruki, Kanamori Toru, Mori Takayasu, Sohara Eisei, Uchida Shinichi, Okamoto Kentaro, Udagawa Tomohiro, Takasawa Kei, Morio Tomohiro, Kashimada Kenichi
Аннотация
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.
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.