Sex development relies on the sex-specific action of gene networks to differentiate the
bipotential gonads of the growing fetus into testis or ovaries, followed by the differentiation of …

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 …

Disorders of sex development (DSD) are a group of clinical conditions with variable
presentation and genetic background. Females with or without development of secondary …

Nuclear receptor subfamily 5 group A member 1/Steroidogenic factor 1 (NR5A1; SF‐1;
Ad4BP) mutations cause 46, XY disorders of sex development (DSD), with phenotypes …

Crassostrea angulata, a major shellfish cultivated in Southern China, has experienced a
notable surge in commercial value in recent years. Understanding the molecular …

Considering that children and adults with DSD may be at risk of several comorbidities a
clear aetiological diagnosis will guide further management. To date, a firm diagnosis is not …

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) …

Differences of sex development (DSDs) are a constellation of conditions that result in genital
ambiguity or complete sex reversal. Although determining the underlying genetic variants …

Abstract Steroidogenic factor 1 (NR5A1/SF1) is a key transcription factor that is known to
regulate the development of adrenal glands and gonads and is also involved in …

Background Over 100 mutations in the SRD5A2 gene have been identified in subjects with
46, XY disorder of sex development (DSD). Exploration of SRD5A2 mutations and …