Surgical Therapy of 17α-hydroxylase Deficiency in 30 Patients.
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.
Department of Obstetrics and Gynecology,PUMC Hospital,CAMS and PUMC,Beijing 100730,China.
Jian-Fa
JF
Jiang
Department of Obstetrics and Gynecology,PUMC Hospital,CAMS and PUMC,Beijing 100730,China.
Yan
Y
Deng
Department of Obstetrics and Gynecology,PUMC Hospital,CAMS and PUMC,Beijing 100730,China.
Wei
W
Xue
Department of Obstetrics and Gynecology,PUMC Hospital,CAMS and PUMC,Beijing 100730,China.
Yan-Fang
YF
Wang
Department of Obstetrics and Gynecology,PUMC Hospital,CAMS and PUMC,Beijing 100730,China.
Qin-Jie
QJ
Tian
Department of Obstetrics and Gynecology,PUMC Hospital,CAMS and PUMC,Beijing 100730,China.
Ai-Jun
AJ
Sun
D000293:Adolescent; D000312:Adrenal Hyperplasia, Congenital / Q000150:complications / Q000601:surgery*; D000568:Amenorrhea / Q000209:etiology; D005260:Female; D006801:Humans; D006973:Hypertension / Q000209:etiology; D007621:Karyotyping; D012189:Retrospective Studies; D013254:Steroid 17-alpha-Hydroxylase
D013254:Steroid 17-alpha-Hydroxylase