Background The 46, XY female is characterised by a male karyotype and female phenotype
arising due to any interruption in the sexual development pathways in utero. The cause is …

Complete androgen insensitivity syndrome (CAIS), where 46, XY individuals present as
female, is caused by variants in the androgen receptor gene (AR). We analyzed the DNA of …

Background: Disorders of sex development (DSD) are a wide range of relatively rare
conditions having diverse pathophysiology. Identification of an underlying cause can help in …

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 …

Sexual development (SD) is a complex process with strict spatiotemporal regulation of gene
expression. Despite advancements in molecular diagnostics, disorders of sexual …

Background The identification of causative mutations is important for treatment decisions
and genetic counseling of patients with disorders of sex development (DSD). Here, we …

Background: We report the clinical case of female patient with 46, XY difference of sexual
development (DSD) and discuss the challenges in the differential diagnosis between …

A variety of mutations in the androgen receptor (AR) gene are linked to androgen
insensitivity syndrome (AIS). AIS is the most common specific cause of 46, XY disorder in …

Mutations in the X-linked androgen receptor (AR) gene underlie complete androgen
insensitivity syndrome (CAIS), the most common cause of 46, XY sex reversal. Molecular …

Context: Disorders of sex development (DSD) are clinical conditions where there is a
discrepancy between the chromosomal sex and the phenotypic (gonadal or genital) sex of …