Transcript CONGENITAL ADRNAL HYPERPLASIA

CONGENITAL ADRNAL
HYPERPLASIA
NNEDU CHARLES OBIDI
MEDICAL FACULTY
5TH YEAR
Congenital adrenal hyperplasia
(CAH) refers to any of several
autosomal recessive diseases
resulting from mutations of
genes for enzymes mediating
the biochemical steps of
production of cortisol from
cholesterol by the adrenal
glands (steroidogenesis
Most of these conditions
involve excessive or deficient
production of sex steroids
and can alter development
of primary or secondary sex
characteristics in some
affected infants, children, or
adults.
The symptoms of CAH vary
depending upon the form of
CAH and the sex of the
patient. Symptoms are
grouped depending on the
deficient hormone of the
adrenal gland which include:
Due to low
mineralocorticoids:
vomiting due to salt-wasting
leading to dehydration and
death
Due to inadequate androgen:
functional and average sized
penis in cases involving
extreme virilization (but no
sperm),ambiguous genitalia,
in some females, such that it
can be initially difficult to
determine
Cortisol is an adrenal steroid
hormone that is required for
normal endocrine function.
Production begins in the
second month of fetal life.
Poor cortisol production is a
hallmark of most forms of
CAH.
Inefficient cortisol production
results in rising levels of ACTH,
which in turn induces
overgrowth (hyperplasia) and
overactivity of the steroidproducing cells of the adrenal
cortex. The defects causing
adrenal hyperplasia are
congenital (i.e., present at
birth).
Cortisol deficiency in CAH is
usually partial, and not the
most serious problem for an
affected person. Synthesis of
cortisol shares steps with
synthesis of mineralocorticoids
such as aldosterone, androgens
such as testosterone, and
estrogens such as estradiol
The resulting excessive or
deficient production of these
three classes of hormones
produce the most important
problems for people with CAH.
Specific enzyme deficiencies are
associated with characteristic
patterns of over- or
underproduction of
mineralocorticoids or sex steroid
In all its forms, congenital
adrenal hyperplasia due to 21hydroxylase deficiency accounts
for about 95% of diagnosed
cases of CAH. Unless another
specific enzyme is mentioned,
"CAH" in nearly all contexts
refers to 21-hydroxylase
deficiency.
The terms "salt-wasting CAH",
and "simple virilizing CAH"
usually refer to subtypes of this
condition.) CAH due to
deficiencies of enzymes other
than 21-hydroxylase present
many of the same management
challenges as 21-hydroxylase
deficiency, but some involve
mineralocorticoid excess or sex
steroid deficiency.
..
Milder degrees of inefficiency
are usually associated with
excessive or deficient sex
hormone effects in childhood
or adolescence, while the
mildest form of CAH
interferes with ovulation and
fertility in adults.
Treatment of all forms of CAH
may include any of:
supplying enough glucocorticoid
to reduce hyperplasia and
overproduction of androgens of
mineralocorticoids
providing replacement
mineralocorticoid and extra
salt if the person is deficient
providing replacement
testosterone or estrogen at
puberty if the person is
deficient
additional treatments to
optimize growth by delaying
puberty or delaying bone
maturation
One of our patient’s
Complaints :anorexia,weight loss,
weakness, vomiting
Anamnesis morbi: child has been ill
since birth with poor weight till
2weeks of age.At age of 2weeks,he
refused eating accompanied by
weakness,vomitting and was then
hospitalized
Investigations
► Neurological
status:
muscle distonia
with moderately
decreased motor
activity with
decreased reflexes
► Ultrasound
investigation:perivas
cular ischaemia of
brain ,kidneys were
normal,uterus was
also visualizes with
normal
status,hypertrophy
of adrenal gland of
2nd degree.
Organic acid analysis
Increased ketoacid of 7.5(5.0 – 7.0)
Increase fumaric acid,increased glutaric
acid,increase d-malic acid with
increased oxoproline and citric acid.
Biochemical Analysis
► Blood:
total cholesterin 5.89(2.955.23mmol),Triglyceride 1.61(0.341.19mmol/l),17 OH hydroxy
progesterone.
► Urine:ph
7.0, chloride 1(3-15g/l),
Liver analysis: parenchymatous
enlargement by 3cm with toxic
cholestatic infiltration in
gallbladder which is also
enlarged by 2cm.
Kidney analysis:hyperplasia of
kidney parenchyma,moderate
pyeloectasia
heart: vessels are fine but
with dilation of right heart
.Brain :has evidence of
hydrocephalus
DIAGNOSIS
► Initial
diagnosis:inborn adrenal
dysplasia&dysfunction(by an
endocrinologist),bilateral cryptorchism
with sterile disorders,adrenogenital
syndrome and pylorospasm,intenstinal
pareses of first type , hypospadia.
► Conclusive diagnosis : hypertrophy of
adrenal gland and genital anomaly.
Treatment
► Ubixinon:1/4
of tablet everyday
► Cudesan:
► Folic
acid:1mg/day for 20days
► Medobiolin:1tab/day for 1month
► Cardonate:1/2 of tab/day for a month
► Analysis control of blood electrolyte ,
urinalysis and examination follow up
Thank you for your attention