17?-hydroxylase/17,20-lyase Deficiency:a Case Report And Literaturereview

Objective:Toanalyze the clinical characteristics and mutation of CYP17A1 gene of a patientwith17?-hydroxylase/17,20-lyasedeficiency.Methods:Afemale patient with 17?-hydroxylase/17,20-lyase deficiency from our hospital in June 2018 was selected.The clinical manifestations,laboratory findings,imagingexamination of the patient were analyzed.TheCYP17A1 geneof the patient and her parents were detected.Results:The female patient was 16 years old,presented with primary amenorrhea,absence of pubic hair and armpit hair,lack of breast development,hypertension and hypokalemia.Determination of endocrine hormone showed lowconcentrations ofCortisol and high concentrations of ACTH.Estradiol and Testosterone concentrationsdecreased.The concentrations ofFollicle Stimulating Hormone?FSH?,Luteinizing Hormone?LH?and Progesterone increased.The plasma renin activity was low,while thelevel of aldosterone was normal.Pelvic ultrasonography revealed a primordial uterus and hypoplastic ovaries,bilateral integration of adrenal glands was normal.Chromosomal analysis revealed a normal 46,XX.CYP17A1 gene detection indicated a homozygous mutations of c.1459₁467delGACTCTTTC,9 bases from 1459 to 1467?GACTCTTTC?deletionin exon 8,leading to deletion of Asp-Ser-Phe amino acids from 487⁴89.Both ofher parents were heterozygous mutations carried on CYP17A1.The patient wasdiagnosed as 17?-hydroxylase/17,20-lyase deficiency?17-OHD?.She was treated with dexamethasoneandComplex Packing Estradiol Tablets/ EstradiolandDydrogesterone Tablets.Follow-upinformationshowedthatthe patienthadregular menstruation,the breast and the uterus developed,the blood pressure and the serum level of potassium was normal.Conclusions:The disease of 17?-hydroxylase/17,20-lyase deficiency should be considered when the patient with primary amenorrhea,undeveloped secondary sexcharacteristics and hypertension.CYP17A1 gene should be detected to make early diagnosis.