Clinical features and gene analysis of patients with different chromosomes 17α-hydroxylase/17,20-lyase defect syndrome
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摘要: 目的:对2例不同染色体17α-羟化酶/17, 20-碳链裂解酶缺陷症 (17α-hydroxylase/17, 20-lyase deficiency, 17OHD) 患者的临床特征及基因突变类型进行回顾性分析。方法:对患者行常规体格检查, 采空腹静脉血行电解质、内分泌激素、染色体、SRY基因检测, 肾上腺CT检查通过高压注射造影剂后行增强扫描, 子宫卵巢经超声检查, 最后通过CYP17基因检测确诊。结果:例1染色体为46, XX, SRY (-), 超声可探及缩小的子宫卵巢。例2染色体为46, XY, SRY (+), 腹腔未探及子宫卵巢, 右侧腹股沟区探及异位的睾丸。2例患者的共同表现为高血压和第二性征不发育。皮质醇水平在上午8:00和下午4:00明显降低, 而同步采血的促肾上腺皮质激素 (ACTH) 水平均明显增高。雌激素 (E2) 及睾酮 (T) 降低, 而促卵泡素 (FSH) 及促黄体素 (LH) 明显增高。卧、立位时肾素活性 (PRA) 降低, 而醛固酮 (ALD) 水平明显增高。肾上腺CT示双侧均为弥漫性增生改变。基因测序结果:例1的CYP17A1基因上检测到纯合突变c.985-987delinAA (p.Y329KfsX89), 该突变生成包含417个氨基酸的截短蛋白;例2第6外显子上发现复合杂合突变c.987C＞A (p.Y329X) 和c.985del (p.Y329TfsX89), 分别生成了329个和418个氨基酸的截短蛋白。结论:例1的17OHD由纯合突变c.985-987delinAA所致, 例2由复合杂合突变c.985del和c.987C＞A所致。2例患者不同染色体性别17OHD的临床特征主要为性器官发育的差异。
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关键词:
- 17α-羟化酶/17 /
- 20碳链裂解酶缺陷症 /
- CYP17A1基因 /
- 高血压
Abstract: Objective: The clinical characteristics and gene mutation types of two patients with different chromosomes 17α-hydroxylase/17, 20-lyase defect syndrome (17α-hydroxylase/17, 20-lyase deficiency, 17 OHD) were retrospectively analyzed.Method: For patients with routine physical examination, fasting venous blood was collected for detection of electrolytes, endocrine hormones, chromosome and SRY gene.The adrenal CT scan was enhanced by high pressure injection of contrast, uterine and ovary examination by ultrasound.Result: The chromosome of patient 1 was 46, XX, and SRY (-).Ultrasonography detected the reduced uterus and ovary in the abdominal cavity.The chromosome of Patient 2 was 46, XY, and SRY (+) and he has no explored uterus and ovary in abdomen.The common characteristics of two patients were hypertension and secondary sexual dysplasia, cortisol levels were significantly decreased in AM8:00 and PM4:00, while the level of corticotropin (ACTH) in synchronous blood sampling increased significantly.Estrogen (E2) and testosterone (T) decreased, while follicle stimulating hormone (FSH) and luteinizing hormone (LH) increased significantly.Renin activity (PRA) was decreased in both clinostatism and standing position, while aldosterone (ALD) level increased significantly.Both adrenal CT were bilateral diffuse hyperplasia.Gene sequencing analysis showed that the CYP17 A1 gene of patient 1 was detected in homozygous mutation c.985-987 delinaa (p.Y329 KfsX89), which produced truncated proteins containing 417 amino acids.Patient 2 was detected heterozygous mutations c.987 C＞A (p.Y329 X) and c.985 del (p.Y329 TfsX89), which produced 329 and 418 amino acid transversal proteins respectively.Conclusion: The 17 OHD of patient 1 was caused by homozygous mutation c.985-987 delinaa (p.Y329 KfsX89), and the 17 OHD of patient 2 was caused by complex heterozygous mutation c.985 del and c.987 C＞A.The clinical characteristics of 17 OHD with different chromosomes are mainly the different sex organs.-
Key words:
- 17α-hydroxylase/17 /
- 20-lyase deficiency /
- CYP17A1 gene /
- hypertention
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