A Case Report And Literature Review Of 17OHD With Hypertension

Objective1.To analyze the clinical,laboratory and CYP17A1 mutation characteristics of a 17α-hydroxylase deficiency(17OHD)case.2.To investigate the characteristics of hypertension and related complications in 17 OHD.Methods1.We studied a 17 OHD patient who was accompanied with cerebral hemorrhage due to hypertension,to observe clinical manifestations and examination results,and gene sequencing of the patient and her parents was performed.2.We reviewed 81 17 OHD cases reported in recent 10 years from PubMed and a China National Knowledge Infrastructure(CNKI)to analyse the characteristics of hypertension and related complications in 17 OHD.Results1.The patient was a young woman(social gender)who was admitted to hospital for cerebral hemorrhage.She underwent hematoma removal surgery and was left with hemiplegia after operation.There was a history ofhypertension,hypokalemia and primary amenorrhea.Previous gynecological ultrasonography indicated no uterus or ovaries,and the karyotype was 46 XY.She presented female appearance,however,her breasts were Tanner I,pubic hair was Tanner I,external genital was prader grade 3.Further examination revealed high blood pressure,low blood potassium,low cortisol,sex hormones and 17-hydroxyprogesterone while high adrenocorticotropic hormone(ACTH),gonadotropins and progesterone.After the ACTH stimulation test,levels of cortisol,DHEA and 17 OHP were still below the reference values.Genetic analyses showed the patient was compound heterozygous for two mutations.One was c.1072 C > T in exon 6 inherited from her mother and the other was c.715 C > T in exon 4 inherited from her father.2.Through the analysis of clinical data of 81 reviewed cases,we found that in 17 OHD,hypertension was common with high incidence(91.3 %),mostly in grade 2 and 3,and the diagnosis was delayed until late puberty.Hypertension is the most important risk factor for cardiovascular and cerebrovascular diseases which can seriously affect the life quality and prognosis of patients.Conclusion1.17 OHD should be highly suspected in patients present with hypertension,hypokalemia,pubertal failure and(or)pseudohermaphroditism and can be confirmed by the CYP17A1 mutation.2.Early detection of hypertension contribute to timely diagnosis and treatment of 17 OHD,and good management of hypertension help to prevent complications and improve prognosis.