Nuclear receptor subfamily 5 group A member 1 (NR5A1), also named steroidogenic factor
1, is an essential transcription factor that regulates a number of target genes crucial for …

Steroidogenic factor 1 (NR5A1, SF‐1, Ad4BP) is a transcriptional regulator of genes
involved in adrenal and gonadal development and function. Mutations in NR5A1 have been …

In this review, the elements included in both sex determination and sex differentiation are
briefly analyzed, exposing the pathophysiological and clinical classification of disorders or …

Variants in the NR5A1 gene encoding SF1 have been described in a diverse spectrum of
disorders of sex development (DSD). Recently, we reported the use of a targeted gene …

Reaching a firm diagnosis is vital for the long-term management of a patient with a
difference or disorder of sex development (DSD). This is especially the case in XY DSD …

Objective To review the mechanisms of endometriosis development, including those related
to epigenetic mutations, cellular dysregulation, inflammatory processes, and oxidative …

Purpose Mutations in the NR5A1 gene, encoding the transcription factor Steroidogenic
Factor-1, are associated with a highly variable genital phenotype in patients with 46, XY …

Disorders of Sex Development (DSDs) are a major paediatric concern and are estimated to
occur in around 1.7% of all live births (Fausto‐Sterling, Sexing the Body: Gender Politics and …

Objective The study aimed to identify the genetic basis of partial gonadal dysgenesis (PGD)
in a non‐consanguineous family from Estonia. Patients Cousins P (proband) 1 (12 years; 46 …

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 …