Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
[Steroid 21-hydroxylase deficiencies and female infertility: pathophysiology and management].
[congenital adrenal hyperplasia]
Steroid
21
-
hydroxylase
deficiency
is
the
most
common
adrenal
genetic
disease
and
is
also
named
congenital
adrenal
hyperplasia
.
Depending
on
the
severity
of
CYP
21
A
2
gene
mutations
,
there
are
severe
or
"
classical
"
forms
and
moderate
or
"
nonclassical
"
forms
of
21
-
hydroxylase
deficiency
.
The
enzyme
deficiency
causes
a
disruption
of
adrenal
steroidogenesis
,
which
induces
hyperandrogenism
and
elevated
plasma
levels
of
progesterone
and
17
-
hydroxyprogesterone
,
the
two
substrates
of
21
-
hydroxylase
.
These
endocrine
abnormalities
will
disrupt
gonadal
axis
,
endometrial
growth
and
maturation
and
finally
secretion
of
cervical
mucus
.
All
these
phenomena
contribute
to
a
female
hypofertility
.
Infertility
is
more
severe
in
classical
forms
.
When
to
become
pregnant
,
treatment
with
hydrocortisone
or
dexamethasone
can
limit
the
production
of
adrenal
androgens
and
progesterone
and
improves
spontaneous
pregnancy
rates
while
minimizing
the
risk
of
miscarriage
,
which
is
usually
relatively
high
in
this
disease
.
When
planning
pregnancy
in
patients
with
a
21
-
hydroxylase
deficiency
,
genotyping
the
partner
is
required
to
screen
for
heterozygozity
(
1
/
50
)
and
to
assess
the
risk
of
transmission
of
a
classical
form
in
the
progeny
.