Which of the following clinical presentations of ambiguous genitalia is associated with high risk of adrenal insufficiency?
a. Testes palpable in a normally formed scrotum bilateral, microphallus with stretched penile length of 1cm
b. Testes palpable in a bifid scrotum BL, urethral opening at the ventral penile-scrotum junction
c. Partially fused scrotum, phallic structure 1.5 cm in length, no palpable gonads
d. Testis palpable on one side of scrotum, stretched penile length of 2.7 cm
ANSWER: c.
Adrenal insufficiency should be suspected and urgently evaluated in any case of ambiguous genitalia with nonpalpable gonads. This presentation is commonly seen in patients with mutations in adrenal hormone biosynthesis resulting in congenital adrenal hyperplasia. In XX females with CAH causing adrenal insufficiency and ambiguous genitalia, there will be no testes; virilization is due to excessive androgen production. In XY males with CAH causing adrenal insufficiency and ambiguous genitalia, undervirilization will be due to absent/impaired testosterone production and testes will have not descended. Micropenis (a) and hypospadias (b) in the setting of descended testes are most likely due to structural developmental defects, though the former can be the result of growth hormone deficiency and the infant should be monitored for hypoglycemia. Unilateral cryptorchidism (d) with otherwise normal genitalia is relatively common and unlikely to be associated with CAH.