Congenital lipoid adrenal hyperplasia: Immunohistochemical study of testosterone synthesis in Leydig cells.
Congenital lipoid adrenal hyperplasia: Immunohistochemical study of testosterone synthesis in Leydig cells.
复制标题
先天性类脂肾上腺增生：间质细胞睾酮合成的免疫组织化学研究。
DOI：
10.1002/iju5.12142
复制
发表时间：
2020
期刊：
影响因子：
--
通讯作者：
Kojima Y
中科院分区：
文献类型：
--
作者：
Matsuoka K;Sato Y;Hoshi S;Koguchi T;Ogawa S;Ishii T;Haga N;Hasegawa T;Kojima Y
摘要先天性肾上腺脂质增生症是一种罕见的导致性发育障碍的疾病。46，xy患者表现为女性外生殖器和腹股沟睾丸。我们描述的情况下，患者先天性脂质肾上腺增生和调查该患者的睾丸详细。病例介绍：一名出生15天的46，XY新生儿出现严重的肾上腺功能不全。先天性肾上腺脂质增生是在检测类固醇急性调控基因突变后诊断的。2岁零5个月时，行双侧性腺切除术。在该患者的睾丸中观察到有和没有脂滴的间质细胞。我们还通过免疫组织化学方法证明，该患者体内维持了一些睾酮合成酶。结论该患者尽管脂质积累，但睾酮合成酶的转录仍然存在。睾酮合成酶的表达模式表明胎儿间质细胞可能在出生后仍存在于该患者的睾丸中。
IntroductionCongenital 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 presentationA 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.ConclusionThe 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.