Androgen insensitivity syndrome (AIS) is a rare genetic disorder that affects the development
of the male reproductive system in individuals with a 46, XY karyotype. In addition to …

Abstract An Endo-European Reference Network guideline initiative was launched including
16 clinicians experienced in endocrinology, pediatric and adult and 2 patient …

Summary Background Steroidogenic factor 1 (SF-1/NR5A1) is essential for human sex
development. Heterozygous NR5A1/SF-1 variants manifest with a broad range of …

Testes were associated with maleness from antiquity, and ancient societies had fanciful
myths about the origins of the sexes and about fetal sexual development. 17th century …

Context Despite high abundance of small indels in human genomes, their precise roles and
underlying mechanisms of mutagenesis in Mendelian disorders require further investigation …

Complete androgen insensitivity syndrome (CAIS) is a rare disease that can be easily
misdiagnosed. Before puberty, this condition is easily misdiagnosed as an inguinal hernia …

Androgen insensitivity syndrome (AIS) is a common disorder/differences of sex development
with a 46, XY karyotype, but diverse genital phenotypes. Various pathogenic variants within …

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

Background Androgen insensitivity syndrome (AIS) is a common condition among
individuals with differences of sexual development (DSD) and results from germline allelic …

This study represents the first documentation of the coexistence of complete androgen
insensitivity syndrome (CAIS) with Müllerian duct remnants (MDRs) in mainland China …