Adrenogenital syndrome • Frequent erections at an early age (in boys)

Salt-losing CAH
Overview
• Apathy, failure to eat, and diarrhea (in infants)
• A group of disorders resulting from hyperplasia of the adrenal
cortex
• Symptoms of adrenal crisis in the first week of life (vomiting,
dehydration
• May be inherited (congenital adrenal hyperplasia [CAH]) or from hyponatremia, hyperkalemia)
acquired,
usually as a result of an adrenal tumor (adrenal virilism)
Physical findings
Simple virilizing CAH
• May be autosomal recessive, resulting in complete or partial
delivery of an • Pseudohermaphroditism in females or precocious puberty in both
enzyme involved in cortisol or aldosterone synthesis sexes
strongly suggests CAH
• May cause fatal adrenal crisis in neonates (salt-losing CAH)
Salt-losing CAH
Pathophysiology • Signs of progressive virilization at an early age: Early appearance
• Deficiencies occur in the enzymes needed for adrenocortical of pubic
secretion of and axillary hair, deep voice, acne, facial hair
cortisol and, possibly, aldosterone. • Small testes
• Compensatory secretion of corticotropin produces varying
• Possibly taller than other children of the same age
degrees of
adrenal hyperplasia. Diagnostic test results
Simple virilizing CAH (most common) Laboratory
• Underproduction of cortisol because of deficiency of the enzyme • Plasma 17-ketosteroid (17-KS) levels are elevated; this result can
21- be
hydroxylase suppressed by administering oral dexamethasone.
• This cortisol deficiency stimulates increased secretion of • Urinary hormone metabolite levels, particularly pregnanetriol,
corticotropin, are
producing large amounts of cortisol precursors and androgens that elevated.
don't
require 21-hydroxylase for synthesis
• Plasma 17-hydroxyprogesterone level is elevated.
Salt-losing CAH • Urinary 17-hydroxycorticosteroid level is normal or decreased.
• 21-hydroxylase almost completely absent Age Factor
• Corticotropin secretion increased, causing excessive production Adrenal hypofunction or adrenal crisis in the first week of
of cortisol life suggests
precursors, including salt-wasting compounds salt-losing CAH. Hyperkalemia, hyponatremia, and
• Plasma cortisol and aldosterone levels — both dependent on 21- hypochloremia, with
hydroxylase — falling precipitously and, in combination with the excessive urinary 17-KS and pregnanetriol and decreased
excessive urinary
production of salt-wasting compounds, precipitating acute adrenal aldosterone levels, confirm it.
crisis Diagnostic procedures
• Corticotropin hypersecretion stimulates adrenal androgens and • Gonadal biopsy and chromosomal studies confirm
produces hermaphroditism.
masculinization
Other
Causes
• Sex chromatin and karyotype studies determine the genetic sex
• Transmitted as an autosomal recessive disorder
of patients
Incidence with ambiguous external genitalia.
• Acquired adrenal virilism is rare and affects twice as many P.25
females as Treatment
males.
Diet
Age Factor
CAH is the most prevalent adrenal disorder in infants and
• Well-balanced

children; Activity
simple virilizing CAH and salt-losing CAH are the most • No restriction
common forms. Medications
Complications Simple virilizing CAH
• Hypertension • Daily administration of cortisone or hydrocortisone
• Hyperkalemic infertility Salt-losing CAH with patient in adrenal crisis
• Adrenal tumor • Immediate I.V. sodium chloride and glucose infusion

• Adrenal crisis • Desoxycorticosterone I.M. and hydrocortisone I.V.

• Altered growth, external genitalia, and sexual maturity • Maintenance includes mineralocorticoid (desoxycorticosterone,
Salt-losing CAH fludrocortisone, or both) and glucocorticoid (cortisone or
hydrocortisone)
• Cardiovascular collapse replacement
• Cardiac arrest Surgery
Assessment • Reconstructive surgery based on the determined sex and external
History genitalia
Simple virilizing CAH Nursing considerations
• Failure to begin menstruation (in girls) Nursing diagnoses
• Delayed growth and development
• Disturbed body image
• Ineffective coping
• Risk for deficient fluid volume
Expected outcomes
The patient will:
• express understanding of norms for growth and development
• verbalize feelings about changed body image
• demonstrate effective coping skills
• maintain an adequate fluid balance.
Nursing interventions
• Maintain I.V. access, infuse fluids, and give steroids as ordered.
• Watch for cyanosis, hypotension, tachycardia, tachypnea, and
signs of
shock.
• Minimize external stressors.
• If a child is receiving maintenance therapy with steroid
injections, rotate
I.M. injection sites to prevent atrophy; tell the parents to do the
same.
Monitoring
• Body weight
• Blood pressure
• Serum electrolyte levels
• Edema, weakness, and hypertension for the patient receiving
desoxycorticosterone or fludrocortisone
Patient teaching
General
Be sure to cover:
• possible adverse effects (cushingoid symptoms) of long-term
therapy
(lifelong maintenance therapy with hydrocortisone, cortisone, or
the
mineralocorticoid fludrocortisone is essential)
• importance of not withdrawing therapeutic drugs suddenly
because
potentially fatal adrenal hypofunction will result
• need to report stress and infection, which require increased
steroid doses
• importance of carrying a medical identification card that states
the
patient is on steroid therapy (drug name and dosage should be
included on
the card).
Discharge planning
• Refer the patient for psychological counseling for help in
accepting this
disorder, as indicated.
Resources
Organizations
National Adrenal Diseases Foundation:
www.medhelp.org/nadf
Selected references
Becker, K.L., et al. Principles and Practice of
Endocrinology and
Metabolism, 3rd ed. Philadelphia: Lippincott Williams &
Wilkins,
2004.
Greenspan, F.S., and Gardner, D.G. Basic and Clinical
Endocrinology, 7th ed. New York: McGraw-Hill Book Co.,
2003.