46,XY 17α-羟化酶缺乏30例手术治疗分析

Surgical Therapy of 17α-hydroxylase Deficiency in 30 Patients

目的探讨染色体核型为46,XY的完全型17α-羟化酶缺乏患者的临床特点及性腺切除时机与方法。方法回顾性分析北京协和医院自2004年1月至2014年12月期间收治的染色体核型为46,XY的完全型17α-羟化酶缺乏且行腹腔镜下性腺切除术患者的临床资料。结果共纳入患者30例,社会性别均为女性,平均年龄(16.1±2.7)岁,26例(86.6%)患者以无自主月经来潮并发现高血压为主诉。所有患者女性第二性征发育差,外阴发育幼稚,无子宫。患者促性腺激素、孕酮及促肾上腺皮质激素水平升高,雌二醇、睾酮、皮质醇水平低下。30例患者均行全麻下腹腔镜性腺切除术,26例(86.7%)患者双侧性腺均位于腹腔内腹股沟管内口处,4例(13.3%)患者的性腺位于腹股沟管。病理提示性腺均为发育不良的睾丸组织。2例(6.7%)患者发生性腺肿瘤,1例Leydig细胞瘤和1例支持细胞腺瘤。结论染色体为46,XY的完全型17α-羟化酶缺乏患者具有较典型的临床特点,及时明确诊断并尽早行腹腔镜下性腺切除以防性腺恶变具有重要的临床意义。

Objective To analyze the clinical features of 17α-hydroxylase deficiency and explore the appropriate timing and methods of surgical treatment.Methods We retrospectively analyzed the clinical data of patients with complete 17α-hydroxylase deficiency,containing Y chromosome material in their karyotype,adimitted to Peking Union Medical College Hospital from January 2004 to December 2014.Results Thirty patients with complete 17α-hydroxylase deficiency were included.Their social gender were all female and the mean age at diagnosis was（ 16.1 ± 2.7） years.Twenty-six patients（ 86.7%） presented with primary amenorrhea and hypertension.The development of secondary sexual characteristics was poor and their uterus was absent.The levels of gonadotropin,progesterone,and adrenocorticotropic hormone were elevated in all patients and the levels of estradiol,testosterone,and cortisol were decreased.All patients had undergone laparoscopic gonadectomy.Most（ 86.7%） of the gonads were located in abdomen,while 13.3% were in inguinal canal.Histopathology confirmed that gonadal malignancy was obsetved in two patients（ 6.7%） ：one with leydig cell tumor and the other with sertoli cell tumor.Conclusions Patients with complete 17α-hydroxylase deficiency have specific clinical features.Early diagnosis and timely laparoscopic gonadectomy are critical to prevent gonadal malignancy.