17α—hydroxylase Deficiency:One Case Reports And Literature Review

Background and objectiveCongenital adrenal hyperplasia(CAH)is an autosomal recessive disorder caused by the inherent defects in enzymes required for corticosteroid synthesis.Clinically more common for the 21 hydroxylase and 11 hydroxylase defects,17α-hydroxylase deficiency is rare.17α-hydroxylase deficiency(17-OHD),also known as Biglieri syndrome.This enzyme deficiency causes cortisol and sex hormone synthesis disorders.The main clinical manifestations of low renin hypertension,hypokalemia,female naive,primary menopause and male pseudohermaphroditism.A case of 17α-hydroxylase deficiency admitted to the Department of Endocrinology of Fujian Provincial Hospital was reported and reviewed in domestic and foreign literature to deepen the understanding of the disease and reduce the rate of misdiagnosis,Improve clinical diagnosis and treatment level.MethodsTo review the clinical data(clinical manifestations,physical examination,blood biochemical examination,hormone examination,imaging examination,chromosomal and genetic testing)of 1 case of 17α-hydroxylase deficiency in Department of Endocrinology of Fujian Provincial Hospital,combined with related literatures,17α-hydroxylase deficiency of the above information analysis.ResultsA 22-year-old gender female patient,chromosome karyotype 46,XX,clinical manifestations: lack of second sexual characteristics(breast and vulva was naive,no pubic hair,armpit hair,primary amenorrhea),hypertension,hypokalemia;laboratory tests;blood cortisol,estrogen,androgens,17-hydroxyprogesterone levels are low,adrenocorticotropic hormone,Luteinizing hormone,follicle-stimulating hormone increased;imaging studies: significantly smaller uterine volume,bilateral adrenal hyperplasia.Gene sequencing: homozygous disease-causing mutations.Conclusions17α-hydroxylase deficiency clinically rare,and therefore lack of clinical secondary sexual characteristics,such as with hypertension,hypokalemia should consider the disease may be;genetic sequencing can help confirm the diagnosis;glucocorticoid replacement therapy can be improved 17α-hydroxylase deficiency in patients with hypertension,hypokalemia.