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Published on: February 8, 2016
Histopathological Features of the Testes of a Patient With Congenital Lipoid Adrenal Hyperplasia
Takuya Sakata1, Kentaro Mizuno2, Daisuke Matsumoto1
1Department of Nephro-urology Nagoya City University Graduate School of Medical Sciences Nagoya Japan.
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.
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