A Case Report of 17α-Hydroxylase/17,20-Lyase Deficiency Caused by Homozygous Mutation of CYP17A1 Gene
Pang Yuewen
Yan Yongji
Cheng Haisheng
Li Yanfeng
Li Peizhe
He Shuang
Han Siyu
Liu Heyang
Zhong Ran
Zhao Shiyu
Yang Lianjun
Gong Huijie
Abstract：Objective:To analyze the clinical features and treatment of a patient with 17α-hydroxylase/17,20-ly-ase deficiency(17OHD)caused by a homozygous mutation in the CYP17A1 gene.Methods:A retrospective review was conducted of the clinical data,laboratory results,imaging findings,genetic testing,and treatment plan of a pa-tient diagnosed with 17OHD due to a homozygous CYP17A1 gene mutation.Results:The patient presented with hy-pertension,hypokalemia,pseudohermaphroditism,and underdeveloped secondary sexual characteristics.Laboratory tests showed decreased levels of cortisol,testosterone,and estradiol,along with elevated levels of adrenocorticotrop-ic hormone(ACTH)and follicle-stimulating hormone(FSH).Bone mineral density tests indicated osteoporosis in the hip and lumbar spine.X-ray of the left wrist suggested delayed bone age.Ultrasound revealed hypoechoic nodules near the iliac vessels at the inguinal ring bilaterally,with no uterine or ovarian structures detected in the pelvic region.CT imaging of the adrenal glands showed localized thickening of the left adrenal gland.Abdominopelvic enhanced CT demonstrated low-density nodules anterior to the external iliac arteries bilaterally,with mild delayed enhancement,suggesting cryptorchidism.No uterine or ovarian structures were observed.Chromosomal analysis revealed a 46,XY karyotype,and genetic testing confirmed a homozygous mutation in the CYP17A1 gene.The patient received gluco-corticoid and estrogen replacement therapy,along with treatment to control blood pressure and maintain potassium levels.Laparoscopic exploration and bilateral orchiectomy were performed,with histopathological examination reveal-ing underdeveloped testes.Conclusion:In patients with underdeveloped secondary sexual characteristics,low sex hormone levels,and hypertension with hypokalemia,17OHD should be considered.Chromosomal and genetic test-ing is crucial for confirming the diagnosis.In male patients with cryptorchidism,early orchiectomy is recommended to prevent malignancy.
Keywords：17α-hydroxylase/1720-lyase deficiencycyp17a1 genegenetic testingpseudohermaphroditismtreatment
Publication Date：2025-02-28
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：6( 49-54 )