Complete androgen insensitivity syndrome in twins with discordant phenotypes: a case report and review of the literature.

The patient was an 18-year-old Han Chinese twin girl diagnosed with complete androgen insensitivity syndrome (CAIS) with a 46,XY karyotype.

• The patient presented with a female phenotype including the presence of a vagina and breasts
• No uterus or ovaries were identified on examination
• Chromosomal karyotype analysis confirmed 46,XY
• The condition was caused by inactivated mutations in the androgen receptor gene resulting in complete androgen resistance

The twin pair showed discordant phenotypes, representing a rare presentation of CAIS in twins.

• CAIS in twins is described as rare
• The co-twin had a discordant phenotype compared to the affected patient
• This case was notable enough to warrant a case report and literature review

Pathological diagnosis following bilateral gonadectomy revealed immature testicular tissue development.

• The patient underwent bilateral gonadectomy
• Pathological examination of the removed gonads showed immature testicular tissue development
• Gonadectomy was performed in part to prevent the emergence of gonadal tumors

Treatment for CAIS included bilateral gonadectomy, hormone replacement therapy (HRT), and external genitalia reconstruction.

• Bilateral gonadectomy was performed to remove intra-abdominal gonads
• Hormone replacement therapy was initiated and continued after surgery
• Continuing HRT after surgery is described as 'critical for the treatment of complete androgen insensitivity syndrome'
• Rebuilding the external genitalia was identified as a component of treatment

Psychological difficulties in CAIS patients were identified as an important clinical consideration requiring attention.

• The authors noted that 'patients' psychological difficulties should be addressed'
• Psychological support is presented as part of the overall management of CAIS
• The condition involves a female phenotype with a male karyotype, which may contribute to psychological challenges