Parents' experiences of having a baby with ambiguous genitalia

Area of Science:

• Pediatrics
• Genetics
• Psychology

Background:

• Ambiguous genitalia, or disorders of sex development (DSD), present unique challenges for families.
• Parental experiences and perceptions are critical for understanding the psychosocial impact of DSD diagnosis.

Purpose of the Study:

• To analyze the experiences and perceptions of parents whose children were diagnosed with DSD.
• To identify key challenges faced by parents from prenatal diagnosis through initial management.

Main Methods:

• Qualitative study involving interviews with parents of 30 children evaluated at a DSD reference center.
• Questionnaire covered prenatal period, disclosure of diagnosis, healthcare professional interactions, and experienced difficulties.

Main Results:

• Most DSD cases were not detected prenatally.
• Diagnosis disclosure was often to the mother alone, leading to parental secrecy and avoidance of social stigma.
• Parents often held personal beliefs about their child's sex, influencing management decisions.

Conclusions:

• Increased awareness and knowledge about DSD are essential to reduce parental shock and societal stigma.
• Training for neonatal care teams is vital to ensure appropriate evaluation before sex assignment.