Department of Gynecology, Affiliated Hospital of Northwestern Polytechnical University, Xi'an, Shaanxi, China.
Department of Gynecology and Obstetrics, The First Affiliated Hospital of Xi'an Jiaotong University, Xi'an, Shaanxi, China.
J Int Med Res. 2021 Mar;49(3):300060521993965. doi: 10.1177/0300060521993965.
We report here a case study of 17α-hydroxylase deficiency in a phenotypic girl with male karyotype (46,XY). We also review the relevant literature to deepen our understanding of the disease, reduce the rate of missed diagnosis, and emphasize that holistic management of this disease requires collaborative multidisciplinary teamwork.
A 14-year-old patient with a female phenotype visited the endocrinology department because of hypertension. The patient had primary amenorrhea and lacked secondary sexual characteristics. Initial laboratory evaluation revealed normal levels of electrolytes, a hypergonadotropic hypogonadal state with high progesterone and low testosterone levels, and a 46,XY karyotype. She was referred to the urology department for gonadectomy and transferred to the gynecological endocrine clinic. On the basis of the patient's medical history and genetic testing results, a diagnosis of 46,XY 17α-hydroxylase deficiency was made. The patient was provided with glucocorticoids, estrogens, metformin, and psychological support.
Patients with 17α-hydroxylase deficiency, a rare cause of congenital adrenal hyperplasia, should be treated by a multidisciplinary team. Relevant experts from different disciplines should set up a systematic and comprehensive individualized management plan to optimize the physical and mental health and quality of life of affected patients.
本研究报告了一例表型女性、核型为 46,XY 的 17α-羟化酶缺陷患者。我们还回顾了相关文献，以加深对该疾病的认识，降低漏诊率，并强调该疾病的整体管理需要多学科团队的协作。
一名 14 岁女性表型患者因高血压就诊于内分泌科。患者原发性闭经，缺乏第二性征。初步实验室评估显示电解质正常，促性腺激素高、孕酮高、睾酮低的促性腺功能减退状态，核型为 46,XY。她被转至泌尿科行性腺切除术，随后转至妇科内分泌科。根据患者的病史和基因检测结果，诊断为 46,XY 17α-羟化酶缺陷。给予患者糖皮质激素、雌激素、二甲双胍和心理支持。
17α-羟化酶缺陷是先天性肾上腺皮质增生症的罕见病因，应通过多学科团队进行治疗。来自不同学科的相关专家应制定系统、全面的个体化管理计划，以优化患者的身心健康和生活质量。
