A term infant noted to have atypical genitalia with perineoscrotal hypospadias and a marked ventral chordee. This could be a penis or an enlarged clitoris. Physical Exam: Gonads are nonpalpable bilaterally on examination of the labioscrotal folds. The parents aren't sure whether their child is male or female and this constitutes a neonatal (social) emergency. Further evaluation was commenced immediately.
An ultrasound revealed a normal uterus and ovaries, as well as normal kidneys and bladder. Chromosomal analysis showed a 46XX karyotype. A genitogram reveals a short distal common urethrovaginal confluence, a vagina with a normal cervical impression, and a normal urethra. Past Medical History: At two weeks of age, this infant is admitted to the ICU with hypovolemic shock, and found to have hyponatremia and hyperkalemia. Plasma 17-hydroxy-progesterone levels were markedly elevated…
