Research progress of 5α-reductase 2 deficiency / 国际儿科学杂志

ABSTRACT

Steroid 5α-reductase type 2 deficiency is caused by mutations in the SRD5A2 gene and is a congenital metabolic defect of autosomal recessive inheritance. The variety of gene mutations causes different levels of enzyme deficiency and results in different clinical phenotype,from the typical male sexual characteris-tics to the complete female sexual characteristics( small penis,perineal scrotal hypospadias and complete female phenotype). In puberty,the child with 5α-reductase 2 deficiency may undergo virilization. The correlation be-tween clinical phenotype and genotype is still under investigation. Steroid 5α-reductase type 2 deficiency and oth-er 46,XY disorders of sex development including androgen insensitivity syndrome have similar clinical charac-teristics,and 5α-reductase type 2 deficiency should be differentiated from other 46,XY disorders of sex develop-ment. The diagnosis of 5α-reductase type 2 deficiency is based on clinical manifestations,imaging examination, hormone detection,urinary steroid analysis and genetic testing,etc. The cutoff value of hormonal diagnosis still needs to be studied and the diagnosis should be further standardized. In most patients,the shift from female to male will occur around puberty,and may cause gender anxiety. The patient may have gender social identity crisis and other ethical controversies. In terms of treatment,gender assignment and gender role management are contro-versial,and surgical procedures need to be further studied. This paper reviews the clinical features,clinical pheno-type and genotype,the differential diagnosis,diagnosis basis and treatment strategy as well as the future challen-ges of 5α-reductase type 2 deficiency,in order to alleviate the sufferings caused by later gender transition in pu-berty and improve the quality of life.