Clinical Analysis Of 5 Cases Of 17β-hydroxysteroid Dehydrogenase 3 Deficiency

Objective:Analysis of hormone levels and gene detection results in 5 cases of 17β-hydroxysteroid dehydrogenase type 3deficiency.Methods:To analyze and summarize the clinical phenotype,hormone level and gene detection results of children with 17β-hydroxysteroid dehydrogenase type 3 deficiency diagnosed in the Children’s Hospital of Chongqing Medical University from 2017 to 2020.Results:All patients were raised as females,and the karyotype was 46,XY.In severe cases,the external genitalia showed complete female genitalia,often due to the discovery of groin mass or progressive masculinization during puberty,the external genitalia of mild patients were ambiguous at birth,and the external genitalia appeared progressive masculinization after puberty.No uterus and ovary were found in testicular tissue by color ultrasound.In laboratory,the testosterone/androstenedione ratio decreased,and the adrenocorticotropic hormone,cortisol,17-hydroxyprogesterone and electrolytes were normal.The results of gene detection showed that all the 5 cases were compound heterozygous mutations and most of the mutations were missense mutations.p.P228 L,p.Y198 F,p.P191 S and p.L239 R are four missense mutations that have not been reported.Conclusion:17β-hydroxysteroid dehydrogenase type 3 deficiency external genitalia phenotype is variable.There are different degrees of masculinity from complete female vulva to small penis with hypospadias.Laboratory testing testosterone/androstenedione ratio decreased in basic or after HCG stimulation.The testosterone/androstenedione ratio usually<0.8 in severe cases,but testosterone/androstenedione ratio below< 0.8 after HCG stimulation was not specific in mild patients,it should be confirmed by genetic detection.