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February 10, 2024

[Analysis of a child with 46,XY Disorder of sex development due to a novel variant of NR5A1 gene].

Ailing Liu Mingli Wu Ping Li Peng Haiying Yanyan Zhou Zengyong Wang Lin Li

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Abstract

To analyze the clinical features and genetic basis of a child with Disorder of sex development (DSD).

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Cite This Study

Liu et al. (2024) studied this question.

synapsesocial.com/papers/68e79adbb6db64358770b196 https://doi.org/10.3760/cma.j.cn511374-20221210-00857

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Keep reading

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

1[Phenotypic and molecular characterizations of 46,XY disorders of sex development due to variants of NR5A1 gene].2024
2Severe Hyperandrogenism Revealing a 46,XY Disorder of Sex Development Due to a Novel NR5A1 MutationOriginal Research · 2026
3Sex Reversal in a 47,XXY Patient due to a Novel Mutation of NR5A1 Gene: A Case Report 2024
4Comprehensively identifying and validating the implications of NR5A1 and DHX37 variants for 46,XY disorders of sex development diagnosis.Original Research · 2026
5Clinical and genetic characteristics of patients with disorders of sex development in a large unselected cohort of ChinaOriginal Research · 2026