Congenital lipoid adrenal hyperplasia: Immunohistochemical study of testosterone synthesis in Leydig cells

INTRODUCTION: Congenital lipoid adrenal hyperplasia is a rare disease that causes disorders of sex development. The 46,XY patient presents with female external genitalia and inguinal testes. We describe the case of a patient with congenital lipoid adrenal hyperplasia and investigated the testes of this patient in detail. CASE PRESENTATION: A 15‐day‐old 46,XY neonate presented with severe adrenal insufficiency. Congenital lipoid adrenal hyperplasia was diagnosed after detection of steroidogenic acute regulatory gene mutations. At 2 years and 5 months, she underwent bilateral gonadectomy. Leydig cells were observed both with and without lipid droplets in the testes of this patient. We also demonstrated immunohistochemically that some testosterone‐synthesizing enzymes were maintained in this patient. CONCLUSION: The results indicated transcription of testosterone‐synthesizing enzymes remained despite lipid accumulation in this patient. The pattern of expression of testosterone‐synthesizing enzymes suggested fetal Leydig cells may have remained after birth in the testes of this patient.