Complete androgen insensitivity syndrome in three sisters

Area of Science:

• Endocrinology
• Genetics
• Reproductive Medicine

Background:

• Disorders of Sexual Development (DSD) encompass congenital anomalies affecting chromosomal, gonadal, and anatomical development.
• Complete Androgen Insensitivity Syndrome (CAIS), also known as Testicular Feminization (TF), is a rare DSD characterized by 46,XY karyotype with female phenotype.
• CAIS often presents with primary amenorrhea or infertility, prompting medical evaluation.

Purpose of the Study:

• To report on three 46,XY siblings diagnosed with Complete Androgen Insensitivity Syndrome (CAIS).
• To highlight the importance of age-appropriate disclosure of CAIS diagnosis, ideally with mental health professional involvement.

Main Methods:

• Case report of three siblings with consistent CAIS diagnosis.
• Review of clinical presentation and diagnostic considerations for CAIS.

Main Results:

• Identification of three siblings with 46,XY karyotype presenting with CAIS.
• Phenotypic presentation in these cases aligns with established CAIS characteristics.

Conclusions:

• CAIS diagnosis in 46,XY individuals requires careful consideration due to the female phenotype.
• Emphasize the need for sensitive, age-appropriate disclosure of CAIS diagnosis, particularly in familial contexts.