Clinical Characteristics And Early Diagnosis And Treatment Of 5α-reductase Type 2 Deficiency In 13 Cases

Objective: To analyze the clinical characteristics of 13 cases of 5α-reductase type 2 deficiency,and to discuss the genotype and early clinical diagnosis and treatment of the disease.Methods: The clinical manifestations,hormone testing levels,genetic testing results,diagnosis and treatment of 13 patients with 5α-reductase type 2 deficiency diagnosed in Children’s Hospital of Chongqing Medical University from 2016 to 2020 were retrospectively analyzed.Results: All 13 children had abnormal development of the external genitalia.11 patients were raised as males after birth,and 2 patients were raised as females after birth.Human chorionic gonadotropin(HCG)hormone stimulation test was performed in 11 children.A total of 6different SRD5A2 mutations were detected in 13 children,which were C.680G>A、C.737 G > A、C.16C>T、C.607G>A、C.578A>G、C.547-9T>G.Among them,c.547-9T>G is the newly discovered gene mutation type.Six patients received testosterone undecanoate treatment before hypospadias urethroplasty,of which five patients showed varying degrees of increase in penile length,and one patient showed no penis growth,but he penile length increased after the addition of DHT preparation.Conclusion: micropenis with varying degrees of hypospadias is a common clinical manifestation of 5α-reductase 2 deficiency.Suspected patients should be confirmed by SRD5A2 gene detection.Patients with 5α-reductase 2 deficiency who choose male gender have more advantages.Short-term use of testosterone preparations or dihydrotestosterone preparations in combination with surgical treatment is conducive to improving the quality of life of prepubertal male gender patients.