Classic congenital adrenal hyperplasia with unilateral functional adrenal cortical adenoma: case report
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-ol...
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| Format: | Article |
| Language: | English |
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Taylor & Francis Group
2024-12-01
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| Series: | Gynecological Endocrinology |
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| Online Access: | https://www.tandfonline.com/doi/10.1080/09513590.2024.2373741 |
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| author | Qin Yan Huancheng Su Xuan Jing Sufen Li Xujiao Ji Zhiping Zhang Yanni Wang Xia Huang Tingting Xue Xueqing Wu Xiangrong Cui |
| author_facet | Qin Yan Huancheng Su Xuan Jing Sufen Li Xujiao Ji Zhiping Zhang Yanni Wang Xia Huang Tingting Xue Xueqing Wu Xiangrong Cui |
| author_sort | Qin Yan |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-2b9d6f6df8d848ff8d8ba3895eb3507f |
| institution | DOAJ |
| issn | 0951-3590 1473-0766 |
| language | English |
| publishDate | 2024-12-01 |
| publisher | Taylor & Francis Group |
| record_format | Article |
| series | Gynecological Endocrinology |
| spelling | doaj-art-2b9d6f6df8d848ff8d8ba3895eb3507f2025-08-20T02:39:22ZengTaylor & Francis GroupGynecological Endocrinology0951-35901473-07662024-12-0140110.1080/09513590.2024.2373741Classic congenital adrenal hyperplasia with unilateral functional adrenal cortical adenoma: case reportQin Yan0Huancheng Su1Xuan Jing2Sufen Li3Xujiao Ji4Zhiping Zhang5Yanni Wang6Xia Huang7Tingting Xue8Xueqing Wu9Xiangrong Cui10Reproductive 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.ChinaFirst Hospital of Shangxi Medical University, Taiyuan, Shanxi, P.R. ChinaDepartment of Clinical Laboratory, Shanxi Provincial People’s Hospital (Fifth Hospital) of Shanxi Medical University, Taiyuan, P.R.ChinaFirst Hospital of Shangxi Medical University, Taiyuan, Shanxi, P.R. ChinaFirst Hospital of Shangxi Medical University, Taiyuan, Shanxi, P.R. ChinaFirst Hospital of Shangxi Medical University, Taiyuan, Shanxi, P.R. ChinaDepartment of Clinical Laboratory, Shanxi Provincial People’s Hospital (Fifth Hospital) of Shanxi Medical University, Taiyuan, P.R.ChinaDepartment of Clinical Laboratory, Shanxi Provincial People’s Hospital (Fifth Hospital) of Shanxi Medical University, Taiyuan, P.R.ChinaDepartment of Clinical Laboratory, Shanxi Provincial People’s Hospital (Fifth Hospital) of Shanxi Medical University, Taiyuan, P.R.ChinaReproductive 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.ChinaReproductive 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.ChinaCongenital 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.https://www.tandfonline.com/doi/10.1080/09513590.2024.2373741Congenital adrenal hyperplasiavirilismCYP21A2adrenocortical adenomagenetic testing |
| spellingShingle | Qin Yan Huancheng Su Xuan Jing Sufen Li Xujiao Ji Zhiping Zhang Yanni Wang Xia Huang Tingting Xue Xueqing Wu Xiangrong Cui Classic congenital adrenal hyperplasia with unilateral functional adrenal cortical adenoma: case report Gynecological Endocrinology Congenital adrenal hyperplasia virilism CYP21A2 adrenocortical adenoma genetic testing |
| title | Classic congenital adrenal hyperplasia with unilateral functional adrenal cortical adenoma: case report |
| title_full | Classic congenital adrenal hyperplasia with unilateral functional adrenal cortical adenoma: case report |
| title_fullStr | Classic congenital adrenal hyperplasia with unilateral functional adrenal cortical adenoma: case report |
| title_full_unstemmed | Classic congenital adrenal hyperplasia with unilateral functional adrenal cortical adenoma: case report |
| title_short | Classic congenital adrenal hyperplasia with unilateral functional adrenal cortical adenoma: case report |
| title_sort | classic congenital adrenal hyperplasia with unilateral functional adrenal cortical adenoma case report |
| topic | Congenital adrenal hyperplasia virilism CYP21A2 adrenocortical adenoma genetic testing |
| url | https://www.tandfonline.com/doi/10.1080/09513590.2024.2373741 |
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