_Discussion:
In this report we presented three patients with 5 alpha reductase
deficiency who were relatives. Their clinical characteristics were
reported and were those typically presented in the literature.
Infants whose external genitals are not typically male or female or
their genital appearance is not compatible with their chromosomal sex
are considered to have disorder of sex development or
DSD1. XY DSD occurs due to insufficient androgen
action. 5α reductase deficiency is one of the causes of XY DSD. This is
a condition with autosomal recessive inheritance2. 5α
reductase is the enzyme responsible for the conversion of testosterone
to dihydrotestostrone (DHT).
Typical clinical feature of this disorder is a 46xy male with female
appearance of the external genitals at birth. However, it may present as
varying degrees of undervirilization in a male
infant.6,7. The internal genital structures are male
and mullerian structures are absent because anti mullerian hormones do
act normally8. Most children with this condition are
diagnosed at birth due to the atypical appearance of their external
genitals but in cases that go underdiagnosed because of the typical
female appearance of their genitals, the diagnosis is always made at
puberty while the secondary male sexual characteristics like increased
muscle mass and voice changes ensue9.
Biochemical findings that support the diagnosis of 5 α reductase
deficiency are that of a normal serum testosterone value and increased
ratio of serum testosterone to DHT10. Definitive
diagnosis is made via DNA mutation analysis11,12.
Treatment of children with 5 α reductase deficiency depends on many
factors. The most important factor is the patient’s phenotype and gender
assignment at the time of diagnosis13.
Multidisciplinary team with good expertise in disorders of sex
development is needed for the best management of these
patients14. Issues like sex assignment and
psychosocial condition of the patients and their families must be all
considered. Patients who are diagnosed in the newborn period should be
raised as male, because with the onset of puberty virilization will
occure15. For children who are diagnosed later the
condition is complex and the choice of sex assignment must be made in
consultation with the child and his family14. If the
decision is made that the child be raised as female then gonadectomy
must be performed to minimize the risk of tumors in the testis and also
prevent virilisation16and the external genitalia
should be corrected surgically. Estrogen therapy for the induction of
breast development and also prevention of osteoporosis is indicated in
these cases.
For subjects who are raised as male or have changed their sex into male,
supplemental androgen therapy is needed to improve virilization and
phallic growth17.