Background Adolescents with 46, XY disorders of sex development (DSD) face additional
medical and psychological challenges. To optimize management and minimize hazards …

Objective To analyze nuclear receptor subfamily 5 group A member 1 (NR 5A1) gene
mutations in a cohort of Chinese patients with 46, XY Disorders of Sex Development (DSD) …

Purpose This study aimed to present the clinical features and gene mutation characteristics
of a child with 46, XY disorders of sex development (DSD) caused by a novel heterozygous …

Background: Patients harboring NR5A1 mutations have a wide spectrum of phenotypes.
Objective: To investigate the phenotype of patients with NR5A1 gene mutations from a 30 …

Purpose 46, XY disorders of sex development (DSD) is the most complicated and common
type of DSD. To date, more than 30 genes have been identified associated with 46, XY DSD …

Mutations in the nuclear receptor subfamily 5 group A member 1 (NR5A1) are the underlying
cause of 10–20% of 46, XY disorders of sex development (DSDs). We describe a young girl …

Disorders/differences of sex development (DSDs) are defined as broad, heterogenous
groups of congenital conditions characterized by atypical development of genetic, gonadal …

Objectives Nuclear receptor subfamily 5 group A member 1 (NR5A1) is a transcription factor
critical for the development of various organs. Pathogenic variants in NR5A1 are associated …

Human sex determination and differentiation is a complex process, during which NR5A1
plays a central role via the transcriptional regulation of key modulators involved in …

Disorders of sex development (DSD) can be classified as 46, XX DSD, 46, XY DSD, and sex
chromosome DSD. Several underlying causes including associated genes have been …