Histopathological Features of the Testes of a Patient With Congenital Lipoid Adrenal Hyperplasia

Introduction: Congenital lipoid adrenal hyperplasia (CLAH) is a type of congenital adrenal hyperplasia characterized by reduced steroid production. Patients with this endocrine disorder as well as chromosome 46,XY have testes and female external genitalia. Because these individuals are usually raised as female, the testes are removed. Case Presentation: A 22-day-old female infant with fever and poor feeding was diagnosed with hypoadrenocorticism. Chromosome test results identified a 46,XY karyotype. Therefore, CLAH was diagnosed. At 1 year and 6 months of age, the patient underwent laparoscopic gonadectomy. Pathological testing of the testes revealed fat deposits in Leydig cells and decreased germ cells. Conclusion: CLAH with chromosome 46,XY may be complicated by spermatogenesis deficiency.