Congenital Adrenal Hyperplasia: 21b-Hydroxylase Deficiency

Lauren and Tim Anderson recently had their second child, a girl whom they named Anne Carter. A day after the delivery, the pediatrician told the Andersons that Anne Carters clitoris was enlarged. The pediatrician ordered a chromosomal evaluation, which confirmed an XX (female) genotype. Other tests showed that she has ovaries, a uterus, and no testes. Table 67 gives the results of the laboratory tests.

The consulting pediatric endocrinologist made a diagnosis of congenital adrenal hyperplasia secondary to 21-hydroxylase deficiency. It was recommended that Anne Carter receive hormone replacement therapy and that she undergo surgery to reduce the size of her clitoris.