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hrp0098p3-227 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2024

A de novo novel heterozygous deletion mutation in steroidogenic factor 1 gene (NR5A1) in a 46,XY female with sex reversal, primary adrenal insufficiency and splenic aplasia: A 13 years follow-up

Wang Danyi , Ma Huamei , Zhang Jun , Du Minlian , Li Yanhong , Chen Qiuli

Background: Steroidogenic factor-1 (SF1) is a nuclear receptor transcription factor that plays a crucial role in regulating the adrenal, gonadal, splenic development, steroidogenesis and reproduction.Objective: To describe a Chinese 46,XY female with sex reversal, primary adrenal insufficiency and congenital splenic dysplasia harboring a novel de novo heterozygous deletion in NR5A1 gene.<p class="ab...

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A de novo novel heterozygous deletion mutation in steroidogenic factor 1 gene (NR5A1) in a 46,XY female with sex reversal, primary adrenal insufficiency and splenic aplasia: A 13 years follow-up

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