DOI: 10.36347/sjmcr.2019.v07i05.008

Pages: 336–340

5-Alpha reductase deficiency is a rare 46XY disorder of sex differentiation (DSD) caused by mutations in the 5-alpha reductase type 2 gene (SRD5A2) located on chromosome 2p23. This disorder was previously termed as familial incomplete male pseudohermaphroditism, pseudovaginal perineoscrotal hypospadias. Affected patients have a deficiency of the 5-alpha reductase type 2 enzymes, which becomes partially or totally unable to convert testosterone into dihydrotestosterone (DHT) which is being responsible for the development of the external genitalia, prostate, and urethra in the male fetus. Here, we report a case of a 16-year-old girl who presented with primary amenorrhea, ambiguous genitalia, and lack of breast development. USG of W/A & MRI of pelvis show no uterus or ovary like structure, shaft of the penis and testicles are noted in the scrotal sac. All of the serum hormone profiles were normal except for raised serum total testosterone. Testosterone to DHT ratio (T/DHT) was elevated (>20). A chromosomal study revealed a 46XY karyotype. After proper counselling, male gender assignment was planned and reconstructive surgery was performed and hormonal replacement therapy was started. In conclusion, the diagnosis of 5-alpha-reductase 2 deficiency may be suspected in infants with ambiguous genitalia or in adolescents or young adults with the characteristic phenotype and serum hormone profiles.