Micropenis associated with testicular agenesis

Area of Science:

• Pediatric Endocrinology
• Genetics
• Reproductive Medicine

Background:

• Micropenis is a rare congenital condition affecting male infants.
• Undescended testes (cryptorchidism) can be associated with disorders of sex development.
• Accurate diagnosis is crucial for appropriate management and gender assignment.

Purpose of the Study:

• To describe two cases of male infants with severe micropenis and absent testicular tissue.
• To evaluate the hormonal response to human chorionic gonadotropin (HCG) stimulation.
• To discuss the decision-making process for gender assignment in ambiguous genitalia.

Main Methods:

• Surgical exploration to identify testicular tissue.
• Human chorionic gonadotropin (HCG) stimulation test to assess testicular function.
• Genetic and hormonal evaluation.

Main Results:

• Two male infants presented with severe micropenis and no identifiable testicular tissue during surgery.
• One infant showed no significant increase in plasma testosterone levels after HCG stimulation.
• Chromosomal sex was male in both cases.

Conclusions:

• These cases highlight the challenges in managing infants with severe micropenis and suspected disorders of sex development.
• Hormonal evaluation is essential in assessing testicular function.
• Gender assignment as female was deemed appropriate for both infants, despite male chromosomal sex, due to the severity of the condition.