Complete androgen insensitivity syndrome (CAIS) is due to complete resistance to the
action of androgens, determining a female phenotype in persons with a 46, XY karyotype …

Differences/disorders of sex development (DSD) are a heterogeneous group of congenital
conditions, resulting in discordance between an individual's sex chromosomes, gonads …

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

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

Complete Androgen Insensitivity Syndrome (CAIS) is a rare genetic condition by mutations
in the androgen receptor (AR) gene resulting in target issue resistance to androgens and a …

A 14-year-old boy with a 46, XY karyotype and persistent breast-3-stage gynecomastia is
reported. The reproductive axis was investigated by standard laboratory methods and the …

Background NR5A1 [Steroidogenic factor 1 (SF1)] is a nuclear receptor that is essential for
the development of gonads and adrenal glands as well as the establishment of …

Catalina de Erauso (Fig. 1) was born in the Basque town of San Sebastián, Spain, either in
1585, according to a supposed autobiography published in 1626, or more probably in 1592 …

Introduction: Androgen insensitivity syndrome (AIS), an X-linked recessive disorder of sex
development (DSD), is caused by variants of the androgen receptor (AR) gene, mapping in …

Presentación del caso. Paciente fenotípicamente femenina de 18 años de edad, cariotipo
46 XY, que fue evaluada en centro de atención de tercer nivel de medicina pediátrica, por …