Congenital Adrenal Hyperplasia
Congenital Adrenal Hyperplasia
Congenital Adrenal Hyperplasia
Hyperplasia
Dr. Abdelaziz Elamin. MD, PhD,
FRCPCH
Professor of Child Health
Sultan Qaboos University, Muscat,
Oman
What is CAH?
It is a familial disorder of adrenal steroid
21-Hydroxylase
11-b-Hydroxylase
17-a-Hydroxylase
3-b-Hsteroid hydrogenese
20,22 Desmolase deficiency
CAH
The enzyme deficiency causes
reduction in end-products,
accumulation of hormone precursors &
increased ACTH production.
The clinical picture reflects the effects
21-Hydroxylase
Deficiency
of cases.
Incidence is 1:5000 to 1:15000 live birth.
Gene is located on the short arm of
21-Hydroxylase deficiency/2
It is characterized by reduced
(17-ketosteroids and
pregnanetriol) are elevated above
normal levels.
21-Hydroxylase
deficiency/3
Decreased secretion of aldosterone results in
21-Hydroxylase Deficiency/4
2 forms, classic early virilization type
21-Hydroxylase
Deficiency/5
Because members of the same family
11--Hydroxylase
Deficiency
8.
It is characterized by low plasma renin activity &
elevation of serum 11-Deoxycortisol and 11deoxycorticosterone.
Because of the strong mineralocorticoid activity
of deoxycorticosterone, the condition is
characterized by salt retention, hypertension &
hypokalemic alkalosis.
The elevated plasma androgens may cause
virilization of the female fetus.
17--Hydroxylase
deficiency
Genetic defect is on chromosome 10.
Presents with similar features of
3--hydroxysteroid
dehydrogenase deficiency
This is a very rare disorder that
Pathophysiology
Anatomically, the adrenal gland can
Enzyme pathway
ESSENTAILS OF
DIAGNOSIS
Increased linear growth with
ESSENTAILS OF
DIAGNOSIS/2
Adrenal crisis with salt-loss &
ESSENTIALS OF
DIAGNOSIS/3
Diagnosis is confirmed by
CLINICAL COURSE
The clinical phenotype depends upon
CLINICAL COURSE/2
Non salt losing CAH present late in
Laboratory Findings
Demonstration of inadequate production of
17-hydroxyprogesterone is characteristic
together with very high urinary
pregnanetriol (metabolite of 17hydroxyprogesterone).
Laboratory Findings/2
11--hydroxylase deficiency is
Laboratory Findings/3
Salt wasting forms of adrenal hyperplasia
Other Tests
A karyotype
Imaging studies
A pelvic ultrasound: in the infant with
TREATMENT PRINCIPLES
Treatment is life-long
Treatment goals are:
to
MODES OF TREATMENT
Steroid replacement
Supportive therapy when needed
Treatment is life-long
Plastic surgery for ambiguous
Acute Medical
Management
Fluid therapy in babies with salt losing
crisis 0.9% sodium chloride 20 ml/kg as IV
bolus, followed by a continuous IV infusion
of 0.9% or 0.45% saline 3200 ml/m2/day.
If the patient is hypoglycemic, 2-4 ml of
10% dextrose will correct the
hypoglycemia.
Patients with 11--hydroxylase and 17alpha-hydroxylase deficiency, may be
hypokalemic and require potassium.
New Trends of
treatment
A New approach therapy is the combined
use of 4 drugs:
glucocorticoid (to suppress ACTH and adrenal
androgen production),
mineralocorticoid (to reduce angiotensin II
concentrations),
aromatase inhibitor (to slow skeletal maturation),
flutamide (an androgen blocker to reduce
virilization)
Surgical Management
Infants with CAH may require surgical
Patient Education
Educate the caretakers and patients
Neonatal Screening
Is done by measuring 17-hydroxyprogesterone
Prenatal diagnosis
Done by chorionic villus sampling at
Prenatal Treatment
Prenatal treatment of 21-hydroxylase
PROGNOSIS
Is good and complications like short
PROGNOSIS /2
Late diagnosis & inadequate therapy
may cause:
Death of newborns with salt-losing
types & if patients are not provided
with stress doses of glucocorticoid in
times of illness, trauma, or surgery.
Psychological problems in girls with
ambiguous genitalia.
Short stature and infertility.