Lipoid congenital adrenal hyperplasia: pathologic features of the testis.

Lipoid congenital adrenal hyperplasia (lipoid CAH) is a rare disorder of steroid biosynthesis that is caused by a molecular defect in the steroidogenic acute regulatory protein. Patients with lipoid CAH usually experience life-threatening adrenal insufficiency and develop female external genitalia in both genetic sexes because of deficient gonadal steroid synthesis. Little is known regarding testicular histology in patients with lipoid CAH, and less is known about the changes in testicular histology with growth. This article describes testicular histopathology in a patient with 46, XY lipoid CAH who underwent orchiectomy at the age of 8 years.