A newborn female is brought to the pediatric clinic for her routine check-up. Upon physical examination, the pediatrician notices that the external genitalia appear unusual. The baby has a prominent clitoris, which is enlarged and resembling a small penis, and there is a partially fused labia, leading to concern about ambiguous genitalia. The parents are visibly distressed but report no history of any family members with similar conditions.

The baby was born full term via normal vaginal delivery, with no complications during pregnancy. The parents mention that they had no prenatal ultrasounds or genetic testing. There is no history of maternal exposure to medications, infections, or known toxins during pregnancy.

The pediatrician orders a series of tests, including a chromosomal analysis to determine the baby’s karyotype, and hormonal levels to evaluate the presence of excess androgens. The chromosomal analysis reveals a 46,XX karyotype, indicating that the infant is genetically female. However, serum testosterone levels are elevated, suggesting the presence of a disorder of sexual differentiation (DSD).

Further imaging studies and consultation with a pediatric endocrinologist confirm a diagnosis of congenital adrenal hyperplasia (CAH), a condition that causes excess androgen production and can lead to ambiguous genitalia in females.

The parents are provided with counseling and education regarding the diagnosis, treatment options, and the need for ongoing care, including hormonal therapy to help with the normalization of genitalia. Surgery to correct the genitalia may be considered, depending on the family’s preferences and the medical team’s recommendations. The family is also advised to attend genetic counseling and be prepared for follow-up care to monitor the child’s growth and development.