Download CONGENITAL ADRENAL HYPERPLASIA

DR. ISRAR LIAQUAT
SR. PEDIATRICS HFH
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It is an autosomal recessive disorder.
Characterize by deficiency of different adrenal
hormones ( cortisol & aldosterone), resulting in
increase ACTH, which leads to adrenocortical
hyperplasia.
There are different varieties of CAH.
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Its commonest cause of CAH.
Involve in more than 90% cases.
Occurs in about 1 in 15000-20000 births.
70% have salt losing form (Both cortisol and
aldosterone deficient).
30% have simple virilizing disease.
PATHOPHYSIOLOGY
Cholesterol
21 hydroxylase
Pregnenolone
17-OH Pregnenolone
17-OH progesterone
Progesterone
Dehydroepiandrosterone
Testosterone
21 hydroxylase
Cortisol
Deoxycortisone
Estradiol
Aldosterone
Ambigous genitalia
Infants with CAH typically present within 2
weeks of age with:
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Vomiting
Lethargy
Inability to take feed
Dehydration
Failure to gain weight
Shock
Females has Ambiguous Genitalia.
Males appear normal.
Common
Urinary &
Vaginal
opening
Enlarge clitoris
Absent scrotum
&
testes
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Serum electrolytes shows Hyponatremia
& hyperkalemia.
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Hypoglycemia.
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ABG’S shows Metabolic acidosis.
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Serum 17-0H-Progesterone levels are high.
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Serum cortisol and aldosterone levels are
low.
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Serum ACTH and Renin levels are high.
21- hydroxylase is deficient.
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Pelvic ultrasonography/ MRI to evaluate for
presence or absence of uterus and ovaries.
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Karyotyping to determine the genetic sex of
the infant
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It is also possible by analysis of fetal DNA for
various genes mutations causing CAH obtained
by chorionic villus samplings.
It also helps in determination of gender of
developing fetus which is important for prenatal
treatment of CAH.
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Newborn screening is important for males
It helps to identify babies with CAH before
development of adrenal crisis.
It can be done after 72 hours of life.
Blood levels of 17-OH Progesterone are
checked which are high in affected babies.
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Glucocorticoid (cortisol) is replaced orally with
hydrocortisone 15-20mg/m2/24hr TDS.
(or Prednisolone 2mg/m2/day)
Treatment is life long.
Adequacy of treatment is assessed by measuring
17-OH progesterone levels in blood.
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Mineral corticoid ( aldosterone) is replaced orally
with fludrocortisone at the dose of 0.1-0.3 mg
once or twice daily.
Serum electrolytes and plasma renin level are
checked for monitoring adequacy of treatment.
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Surgical treatment usually follows sex
assignments of child.
Overvirilized females usually undergo surgery
between 4-12 months of age.
Clitoral resection, vaginoplasty and correction of
urogenital sinus done.
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Main goal is to prevent development of
ambiguous genitalia in affected female babies.
Dexamethasone is given at 6 weeks of gestation.
Later Chronic villous sampling done to analyze
fetal DNA.
Treatment is continued only in affected female.
These patients are regularly followed up.
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Resolution of sign & symptoms.
Blood pressure
Growth monitoring & tanner staging.
Complication of disease and treatment.
Serum electrolytes and 17-OH Progesterone
Bone age is checked annually.
Compliance is ensured.
Consultation with pediatric surgeon.
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Adrenal crisis and death
Arrhythmias
Short stature
Malnutrition
Sexual dysfunction
Precocious puberty
Infertility
Hypertension
Weight gain
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Prognosis is usually good in achieving normal
height, puberty, sexual function and fertility
with adequate medical and surgical
treatment.
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