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.