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Classic congenital adrenal hyperplasia with unilateral functional adrenal cortical adenoma: case report.
Yan, Qin; Su, Huancheng; Jing, Xuan; Li, Sufen; Ji, Xujiao; Zhang, Zhiping; Wang, Yanni; Huang, Xia; Xue, Tingting; Wu, Xueqing; Cui, Xiangrong.
Affiliation
  • Yan Q; Reproductive Medicine Center, The affiliated Children's Hospital of Shanxi Medical University, Children's Hospital of Shanxi and Women Health Center of Shanxi, Taiyuan, Shanxi, P.R.China.
  • Su H; First Hospital of Shangxi Medical University, Taiyuan, Shanxi, P.R. China.
  • Jing X; Department of Clinical Laboratory, Shanxi Provincial People's Hospital (Fifth Hospital) of Shanxi Medical University, Taiyuan, P.R.China.
  • Li S; First Hospital of Shangxi Medical University, Taiyuan, Shanxi, P.R. China.
  • Ji X; First Hospital of Shangxi Medical University, Taiyuan, Shanxi, P.R. China.
  • Zhang Z; First Hospital of Shangxi Medical University, Taiyuan, Shanxi, P.R. China.
  • Wang Y; Department of Clinical Laboratory, Shanxi Provincial People's Hospital (Fifth Hospital) of Shanxi Medical University, Taiyuan, P.R.China.
  • Huang X; Department of Clinical Laboratory, Shanxi Provincial People's Hospital (Fifth Hospital) of Shanxi Medical University, Taiyuan, P.R.China.
  • Xue T; Department of Clinical Laboratory, Shanxi Provincial People's Hospital (Fifth Hospital) of Shanxi Medical University, Taiyuan, P.R.China.
  • Wu X; Reproductive Medicine Center, The affiliated Children's Hospital of Shanxi Medical University, Children's Hospital of Shanxi and Women Health Center of Shanxi, Taiyuan, Shanxi, P.R.China.
  • Cui X; Reproductive Medicine Center, The affiliated Children's Hospital of Shanxi Medical University, Children's Hospital of Shanxi and Women Health Center of Shanxi, Taiyuan, Shanxi, P.R.China.
Gynecol Endocrinol ; 40(1): 2373741, 2024 Dec.
Article in En | MEDLINE | ID: mdl-39034929
ABSTRACT
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.
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Steroid 21-Hydroxylase / Adrenal Cortex Neoplasms / Adrenal Hyperplasia, Congenital / Adrenocortical Adenoma Limits: Adolescent / Female / Humans Language: En Journal: Gynecol Endocrinol Journal subject: ENDOCRINOLOGIA / GINECOLOGIA Year: 2024 Type: Article

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Steroid 21-Hydroxylase / Adrenal Cortex Neoplasms / Adrenal Hyperplasia, Congenital / Adrenocortical Adenoma Limits: Adolescent / Female / Humans Language: En Journal: Gynecol Endocrinol Journal subject: ENDOCRINOLOGIA / GINECOLOGIA Year: 2024 Type: Article