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

Q4 Medicine

IJU Case Reports Pub Date : 2025-05-27 DOI:10.1002/iju5.70048

Takuya Sakata, Kentaro Mizuno, Daisuke Matsumoto, Hidenori Nishio, Atsushi Suzuki, Kohei Aoyama, Atsushi Ishida, Takahiro Yasui, Haruo Mizuno, Yutaro Hayashi

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Abstract

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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1例先天性肾上腺脂质增生患者睾丸的组织病理学特征

先天性脂质肾上腺增生（CLAH）是一种以类固醇生成减少为特征的先天性肾上腺增生。患有这种内分泌紊乱以及46、XY染色体的患者有睾丸和女性外生殖器。因为这些个体通常被当作女性抚养，所以睾丸被切除了。病例介绍一名22日龄女婴儿，因发烧及进食不良被诊断为肾上腺皮质功能减退症。染色体检测结果确定为46，xy核型。因此诊断为CLAH。在1岁零6个月大时，患者接受了腹腔镜性腺切除术。病理检查显示睾丸间质细胞脂肪沉积，生殖细胞减少。结论46xy染色体CLAH可能合并精子发生缺陷。

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