5 Alpha Reductase deficiency; an important cause of 46 XY DSD: report of 3 cases within a family.
Abstract: 5 α reductase deficiency is a genetic disorder causing 46 XY disorder of sex development (DSD). Typical clinical feature is a male with female external genitalia or undervirilization at birth. Here we report 3 cases of this disorder within a family.
Key Words: disorder of sex development, dehydrotestestrone, 5 alpha reductase deficiency
Introduction: 5α reductase is an enzyme responsible for conversion of testosterone to dehydrotestestrone in androgen target tissues. Deficiency of this enzyme results in abnormal male sexual development before birth and also during puberty1. This is a rare genetic condition with autosomal recessive inheritance2. Affected males are born with undervirilization of the external genitals or 46,XY disorder of sexual development (DSD). Individuals with this disorder have impaired virilization during the embryonal period. The wolffian structures exist and are normally differentiated but the appearance of the external genitals may range from normal female to undervirilized male at birth5. Children with this condition are usually raised as female and during puberty they develop some male sex characteristics like voice changes and increased muscle mass.
Most cases of this condition are reported from countries with high rates of consanguine marriages like: papua new guina, duminican republic, turkey and lebenon3. The prevalence of this condition in the general population is not known4 and we don’t have data about its prevalence in Iran.
Here we report 3 cases of 5α reductase deficiency in a family in Iran. Written informed consent was obtained from the patients or their guardian to publish this report.