Response to: Comment on “Complete Androgen Insensitivity Syndrome: Optimizing Diagnosis and Management”

Comment on “Complete Androgen Insensitivity Syndrome: Optimizing Diagnosis and Management”

1 Department of Medical and Surgical Sciences, Pediatric Unit, Program of Endocrinology, University of Bologna, Italy 2 Department of Obstetrics and Gynecology, University of Bologna, Italy 3 Adolescent Medicine, Department of Obstetrics, Gynecology and Pediatrics, University Hospital, Pisa, Italy 4Clinical Psychology Unit, Department of Pediatrics, University of Bologna, Italy 5 Pediatric Surg...

Response to: Comment on “Complete Androgen Insensitivity Syndrome: Optimizing Diagnosis and Management”

We appreciate Balsamo and colleagues’ interest [1] in our recent paper [2] about a case of complete androgen insensitivity syndrome (CAIS). We are grateful for their insightful comments and the opportunity to clarify a number of elements from our work. Since many of the opinions expressed in their letter are based on biased interpretation of data, we would like to point-to-point answer their qu...

Complete Androgen Insensitivity Syndrome in Three Sisters

Complete Androgen Insensitivity Syndrome.

The incidence of Complete Androgen Insensitivity Syndrome (CAIS) is about 1 in 20,000. People with CAIS are normal appearing females, despite the presence of testes and a 46, XY chromosome constitution. We came across a case in which a 17 years old girl presented with the complaint of inguinal hernia and amenorrhea. Subsequent investigations were done revealing absence of female internal genita...

[Complete androgen insensitivity syndrome: diagnosis and clinical characteristics].

Complete androgen insensitivity syndrome (CAIS) is a genetic disease caused by mutations in the androgen receptor gene. CAIS patients are individuals with a 46, XY karyotype. The phenotype consists in female external genitalia, short vagina, absent mullerian structures, and abdominal, inguinal or intralabial testes. Our aim is to describe a group of CAIS patients in our centre and identify the ...