Classic congenital adrenal hyperplasia with unilateral functional adrenal cortical adenoma: case report

• Main Authors: Qin Yan (Author), Huancheng Su (Author), Xuan Jing (Author), Sufen Li (Author), Xujiao Ji (Author), Zhiping Zhang (Author), Yanni Wang (Author), Xia Huang (Author), Tingting Xue (Author), Xueqing Wu (Author), Xiangrong Cui (Author)
• Format: Book
• Published: Taylor & Francis Group, 2024-12-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Summary

Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders related to adrenal steroid biosynthesis, and mainly caused by mutations in the CYP21A2 gene encoding 21-hydroxylase. Adrenal tumors are common in CAH, but functional adrenal tumors are rare. Here, we report a 17-year-old female with virilized external genitalia and primary amenorrhea, accompanied by a right adrenal tumor. Her 17-OHP level was normal, cortisol and androgen levels were significantly elevated, and the tumor pathology showed adrenal cortical adenoma. Gene testing for CYP21A2 showed c.518T > A in exon 4 and c.29313C > G in intron 2. The possibility of untreated classic CAH with 21-OH deficiency causing functional adrenal cortical adenoma should be considered. When clinical diagnosis highly considers CAH and cannot rule out the influence of functional adrenal tumors' secretion function on 17-OHP, gene mutation analysis should be performed.

Item Description

10.1080/09513590.2024.2373741
1473-0766
0951-3590