Progressive central puberty in a toddler with partial androgen insensitivity

Area of Science:

• Endocrinology
• Genetics
• Pediatrics

Background:

• Partial androgen insensitivity (PAIS) is a disorder of sexual development.
• Novel mutations in the androgen receptor (AR) gene can cause PAIS.
• Early diagnosis and management are crucial for affected infants.

Observation:

• A male infant presented with PAIS due to a novel AR mutation.
• Testosterone therapy was administered to increase phallic size.
• The infant developed pubic hair and central precocious puberty.

Findings:

• Testosterone administration triggered central precocious puberty in an infant with PAIS.
• The novel AR mutation may influence the response to exogenous androgens.
• Depot leuprolide effectively suppressed the induced precocious puberty.

Implications:

• This case highlights the complex interplay between AR mutations, androgen therapy, and pubertal development.
• Understanding these mechanisms is vital for managing DSDs and preventing iatrogenic complications.
• Further research into AR mutation-specific responses to hormone therapy is warranted.