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

Abstract

AbstractIntroductionDisorders 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.NR5A1emerged to be causative of 10 to 20% of 46,XY DSD.ObjectiveThe present study aims to perform a systematic review evaluating the association between phenotype and genotype in patients withNR5A1defects and 46,XY DSD looking for outcomes of spontaneous puberty, change of gender and social sex.MethodThe proposed systematic review will be conducted in accordance with the Joanna Briggs Institute methodology for systematic reviews of etiology and risk. This review will consider observational studies, including prospective and retrospective cohort studies, cross sectional, case series and case reports studies. We will focus on studies that included patients with allelic variants in theNR5A1gene and 46,XY DSD. This review will consider studies that include the outcomes of spontaneous puberty, gender change and genotype/phenotype correlation associating the types of variants with the degree of external genitalia virilization.ConclusionResults of this review can help in the management and clinical understanding of patients withNR5A1defects and 46,XY DSD.