The genotype-phenotype correlation of NR5A1 variants in 46,XY individuals: a study protocol

medRxiv - Endocrinology Pub Date : 2024-08-28 DOI:10.1101/2024.08.27.24312633

Renata Thomazini Dallago, Rafael Loch Batista, Berenice Bilharinho de Mendonça, Vania dos Santos Nunes Nogueira

引用次数: 0

Abstract

Introduction Disorders of sex development (DSDs) were defined as congenital conditions in which the development of chromosomal, gonadal and anatomic sex is atypical. Nuclear receptor subfamily 5 group A member 1 (NR5A1), previously known as steroidogenic factor 1 (SF1) plays a crucial role in transcriptional regulation of genes involved in steroidogenesis, adrenal and gonadal development, and reproduction. NR5A1 emerged to be causative of 10 to 20% of 46,XY DSD.

查看原文本刊更多论文

46,XY个体NR5A1变体的基因型与表型相关性：研究方案

导言性别发育障碍（DSD）被定义为染色体、性腺和解剖性别发育不典型的先天性疾病。核受体 5 亚家族 A 组 1（NR5A1），以前称为类固醇生成因子 1（SF1），在类固醇生成、肾上腺和性腺发育及生殖相关基因的转录调控中发挥着至关重要的作用。在 46,XY DSD 中，10%-20% 的病例是由 NR5A1 引起的。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

求助全文

约1分钟内获得全文求助全文

来源期刊

medRxiv - Endocrinology

自引率

0.00%

发文量