Gong Yu, Qin Fang, Li Wen-Jia, Li Le-Yu, He Ping, Zhou Xing-Jian
Department of Endocrine and Metabolism, Xiangyang No. 1 People's Hospital, Hubei University of Medicine, Xiangyang 441000, Hubei Province, China.
World J Clin Cases. 2022 Apr 16;10(11):3553-3560. doi: 10.12998/wjcc.v10.i11.3553.
17α-Hydroxylase deficiency (17-OHD) is a rare form of congenital adrenal hyperplasia, characterized by hypertension, hypokalemia, and gonadal dysplasia. However, due to the lack of a comprehensive understanding of this disease, it is prone to misdiagnosis and missed diagnosis, and there is no complete cure.
We report a female patient with 17-OHD. The patient was admitted to the Department of Neurology of our hospital due to limb weakness. During treatment, it was found that the patient's condition was difficult to correct except for hypokalemia, and her blood pressure was difficult to control with various antihypertensive drugs. She was then transferred to our department for further treatment. On physical examination, the patient's gonadal development was found to be abnormal, and chromosome analysis demonstrated karyotype 46,XY. Considering the possibility of 17-OHD, the cytochrome P450 family 17 subfamily A member 1 () test was performed to confirm the diagnosis.
The clinical manifestations of 17-OHD are complex. Hormone determination, imaging examination, chromosome determination and gene test are helpful for early diagnosis.
17α-羟化酶缺乏症（17-OHD）是先天性肾上腺皮质增生症的一种罕见形式，其特征为高血压、低钾血症和性腺发育异常。然而，由于对该疾病缺乏全面了解，容易误诊和漏诊，且尚无完全治愈方法。
我们报告了一名患有17-OHD的女性患者。该患者因肢体无力入住我院神经内科。治疗期间发现，除低钾血症外患者病情难以纠正，且使用各种降压药物均难以控制其血压。随后她被转至我科进一步治疗。体格检查发现患者性腺发育异常，染色体分析显示核型为46,XY。考虑到17-OHD的可能性，进行了细胞色素P450家族17亚家族A成员1（）检测以确诊。
17-OHD的临床表现复杂。激素测定、影像学检查、染色体测定及基因检测有助于早期诊断。
