Title: Congenital Adrenal Hyperplasia
1Congenital Adrenal Hyperplasia
- Includes a group of disorders, each characterized
by a deficiency of one of the enzymes needed to
make cortisol - Autosomal recessive condition
- More than 90 of the cases in children are
caused by a partial or complete 21-hydroxylase
enzyme deficiency
2Cortisol
- Maintenance of blood sugar levels
- Partial maintenance of body fluids and
electrolytes - Protection of the body against stress
3Normal Adrenal Function
- Adrenal gland composed of two regions
- The inner region (the medulla) produces
adrenaline - The outer region (the cortex) produces adrenal
steroid hormones - Three types of adrenal steroids
- Glucocorticoids
- Mineralocorticoids
- Androgens
- Androgens are produced in abnormal amounts in
children with congenital adrenal hyperplasia (CAH)
4Cortisol
- The pituitary gland located at the base of the
brain produces ACTH, which activates the adrenal
glands to produce cortisol. - When cortisol levels in the blood are too high,
ACTH production stops so that cortisol production
returns to normal. - When cortisol in the blood is too low, ACTH
production increases until cortisol
concentrations return to normal. - Cortisol production doubles or triples at the
time of medical, surgical, or psychological
stress.
5Aldosterone
- Aldosterone secretion is under the control of
angiotensin. - Angiotensin is under the control of renin, which
is produced by the kidneys. - When aldosterone is too low, sodium chloride
levels in the blood fall, as does total body
water, which leads to an increase in renin. This
in turn causes an increase in angiotensin
production and a subsequent return of aldosterone
concentrations to normal. - When aldosterone is too high, serum sodium, total
body water, and blood pressure increase,
resulting in decreased renin and angiotensin
production until aldosterone returns to normal.
6Adrenal Androgens
- Responsible for the development of pubic and
axillary hair in girls - Testicular androgens play the major role in male
masculinization
7Adrenal Function and 21-Hydroxylase Deficiency
- Three forms of 21-hydroxylase deficiency
- Salt losing
- Simple virilizing
- Late onset or nonclassic
8Salt-Losing Form of CAH
- Near-total deficiency of the 21-hydroxylase
enzyme - Results in the complete inability to produce
cortisol and aldosterone
9Salt-Losing Form of CAH
- No cortisol hypoglycemia
- No aldosterone salt and water loss
- Increased cortisol precursors (17-hydroxyprogeste
rone) salt-losing tendency - Increased androgens masculinization
10Simple Virilizing Form of CAH
- Partial deficiency of the 21-hydroxylase enzyme
- Near-normal or normal amounts of cortisol
produced in response to increased ACTH output - Adrenals are able to increase production of
aldosterone to compensate for salt loss
11Simple Virilizing Form of CAH
- Normal or near-normal cortisol level
- Increased cortisol precursors (17-hydroxyprogeste
rone) - Increased aldosterone to compensate for
salt-losing tendency - Increased androgens masculinization
12Adrenal Androgens in Salt-Losing and Simple
Virilizing CAH
- Excess androgen production during fetal life is
associated with salt-losing and simple virilizing
CAH and masculinizes the external genitalia of
female infants - The simple virilizing form of CAH results in a
moderate excess of androgen production with
moderate masculinization of the external
genitalia in female infants - Salt-losing CAH results in greater
masculinization than simple virilizing CAH from
greater production of androgens
13Nonclassic or Late-Onset CAH
- Refers to a mild deficiency of the 21-hydroxylase
enzyme - Normal amounts of cortisol and aldosterone are
produced - Increased amounts of cortisol precursors
(17-hydroxyprogesterone) and adrenal androgens
are produced - In boys and girls, results in rapid growth and
early virilization - Masculinization and abnormal menses seen in girls
14Nonclassic or Late-Onset CAH
- Normal cortisol
- Normal aldosterone
- Increased 17-hydroxyprogesterone (moderate)
- Increased androgens masculinization
15Diagnostic Evaluation for CAH
- Ambiguous genitalia
- Elevated levels of 17-hydroxyperogesterone
- Serum electrolytes
- Serum sodium will be low
- Serum potassium will be high
- Karyotype to determine genetic sex
16Treatment
- Cortisol or prednisolone administration (oral
preparations available Cortef tablets and Cortef
suspension Pediapred syrup) - Oral dosage is divided to simulate the normal
diurnal pattern of ACTH secretion - Children with salt-losing form require
aldosterone replacement - Preparation for salt-retaining hormone treatment
is Florinef once or twice daily
17Nursing Considerations
- Recognition of ambiguous genitalia in the newborn
and notification of parents of discovery - Assessment for signs of dehydration, electrolyte
imbalance, and shock in the salt-wasting form of
the disease - Assessment of vital signs and peripheral perfusion
18Inborn Error of Metabolism
- Includes a large number of inherited diseases
caused by the absence or deficiency of a
substance essential to cellular metabolism,
usually an enzyme - Absence of a missing enzyme results in an
accumulation of substances that precedes the
interruption the consequence is manifested as an
illness - Most are characterized by abnormal protein,
cholesterol, or fat metabolism - Examples include phenylketonuria and galactosemia
19What Is Diabetes Mellitus?
- The inability of the body to produce or respond
properly to the hormone insulin - Results in a malfunction of carbohydrate,
protein, and fat metabolism
20Types of Diabetes
- Type 1 diabetes
- Called insulin-dependent diabetes mellitus or
juvenile-onset diabetes - Usually strikes children and young adults,
although disease onset can occur at any age - May account for 5 to 10 of all diagnosed cases
of diabetes
- Type 2 diabetes
- Called non-insulin-dependent diabetes mellitus or
adult-onset diabetes - Associated with older age, obesity, family
history of diabetes, history of gestational
diabetes, impaired glucose metabolism, physical
inactivity, and race/ethnicity - Increasingly being diagnosed in children and
adolescents
21Diagnosis
- Acute symptoms of diabetes plus causal plasma
glucose concentration of 200 mg/dL or more - Fasting plasma glucose concentration of 126 mg/dL
or greater - 2-hour plasma glucose is
- 200 mg/dL or greater during an oral glucose
tolerance test
22Type 1 vs Type 2 Diabetes Mellitus
- Type 1
- Insulin deficiency
- Abrupt onset
- Ketosis prone
- Generally not obese
- Insulin dependent
- Not responsive to oral agents
- Onset usually 18 years or younger
- Type 2
- Insulin resistance
- Insidious onset
- Not prone to ketosis
- Usually obese
- Noninsulin dependent
- Responsive to oral hypoglycemic medications
- Onset usually in adults but seen in obese
adolescents
23Type 1 Diabetes
- Incidence 15 per 100,000 people in North America
- Peak ages of onset between 10 and 12 years of
age in girls and 12 to 14 years of age in boys - Risk increases if the child or adolescent has a
first-degree relative or identical twin with
disease - Type 1 diabetes may show a familial tendency
- Theories for disease development include genetic
components, environmental influences such as
viruses, and an autoimmune response that causes
the destruction of insulin-secreting cells of the
pancreas in the islets of Langerhans
24Type 1 Diabetes
- Pathophysiology
- 90 of the insulin-secreting cells of the
pancreas are progressively destroyed - Absence of insulin available for metabolism of
cholesterol causes fats and proteins to be burned - Excess amount of unused cholesterol causes
hyperglycemia - Ketones are produced as a byproduct of fat
metabolism - Ketones cannot be used by the cells in the
absence of insulin - Ketones accumulate in the blood, causing
metabolic acidosis and ketonuria
25Pathophysiology of Type 1 Diabetes Mellitus
26Type 1 Diabetes
- Clinical manifestations
- Polyphagia, polydypsia, and polyuria (3 Ps)
- Unexplained weight loss
- Blurred vision
- Lack of energy
- Diminished reflexes
- Irritability
- Nausea and vomiting
- Fruity odor of breath
- Kussmaul respirations
27Insulin Therapy
Name of Insulin Onset of Action Peak Effect after Injection
Humalog/Novolog (very short acting) 5-15 min 30-60 min
Regular/short acting 30 min 2-3 hr
NPH/intermediate acting 1-2.5 hr 6-9 hr
Lente/intermediate acting 2-4 hr 8-12 hr
Ultra Lente/long acting Lantus (glargine)/long acting 4-6 hr None 8-15 hr 24 hr
Combinations 70/30, 50/50, 75/25 30 min 7-12 hr
28Insulin Therapy
- Dosage
- Starting dose
- Divided as two thirds before breakfast and one
third before dinner - Two thirds as intermediate, one third as short
or rapid - Twice-daily regimen most common
29Insulin Therapy
- Rotation of sites
- Mix insulin from clear to cloudy
- Inject in subcutaneous tissue
- Do not premix any insulin unless advised
- Timing of injections in relation to meals
- Insulin can be stored at room temperature
- Only regular insulin may be administered
intravenously
30Insulin Delivery Systems
- Current systems
- Syringes
- Insulin pens
- Insulin pumps
- Future delivery systems (Not yet FDA approved)
- Powdered inhalers
- Nebulizers
31Monitoring
- Glucose testing is more accurate and is the
preferred method of monitoring glucose levels - Glycosylated hemoglobin (hemoglobin A1c) level
is usually measured every 3 months to evaluate
long-term control - The higher the hemoglobin A1c, the poorer the
control has been over the last 3 months - What is the purpose of monitoring?
- Why is monitoring important in the care and
treatment of diabetes?
32Child Monitoring Blood Glucose Level
33Detection of Type 2 Diabetes in Children
- Difficult in children
- It can go undiagnosed for a long time
- Children often have no symptoms or mild symptoms
- Criteria for differentiating between types of
diabetes in children can be confusing - Children with type 2 diabetes can develop
ketoacidosis - Children with type 1 diabetes can be overweight
34Type 2 Diabetes in Children
- Health care providers are finding more and more
children with type 2 diabetes, a disease usually
diagnosed in adults aged 40 years or older. - The epidemics of obesity and the low level of
physical activity among young people may be major
contributors to the increase in type 2 diabetes
during childhood and adolescence. - Type 2 diabetes in children and adolescents
appears to be a sizable and growing problem among
U.S. children and adolescents.
35Type 2 Diabetes
- Pathophysiology
- The body develops a resistance to insulin and no
longer uses it properly - As the need for insulin rises, the pancreas
gradually loses its ability to produce sufficient
amounts of insulin to regulate blood sugar
36Type 2 Diabetes
- Clinical manifestations
- Polyphagia
- Polyuria
- Polydypsia
- Fatigue
- Blurred vision
- Frequent or slow-healing infections
- Numbness or tingling in hands or feet
- Dry, itchy skin
37Treatment for Type 2 Diabetes
- Sulfonureas (glyburide or glipizide)
- these drugs help the beta cells of the pancreas
increase the release of insulin - Biguanides (metformin) the insulin
sensitizer reduces hepatic glucose production - Glitazones (Avandia) enhances insulin action
in skeletal muscle, adipose tissue, and liver
can decrease or eliminate the need for insulin in
type 2 diabetics - Alpha-glucosidase inhibitors (Acarbose) reduces
the rate of digestion of complex carbohydrates
and the subsequent absorption of glucose
38Benefits of Regular Physical Activity
- Helps the body use glucose more effectively
- Weight loss and maintenance
- Increases HDL and lowers LDL cholesterol
- Lowers blood glucose levels
- Muscular strength
- Cardiorespiratory (aerobic) fitness
- Increases bone mass (through weight-bearing
activities) - Relieves anxiety and stress
- Increases self-esteem
39Diets
- No concentrated sweets (use sugar substitutes,
diet syrups, and diet desserts) - Constant carbohydrate diet (carbohydrates are
based on the number of calories the child needs
each day) - Carbohydrate/insulin ratio (indicates how many
units of insulin are needed to cover a
specified number of carbohydrate grams) - Exchange diet (divides the foods that can be
eaten into six groups and measures each food by
exact serving size) - Calorie restriction
40Complications of Diabetes Hypoglycemia
- Blood sugar of usually less than 70 mg/dL
- Clinical manifestations
- Shakiness, dizziness
- Sweating
- Hunger
- Headache
- Irritability
- Pale skin color
- Sudden moodiness or behavior changes, such as
crying for no apparent reason - Blurred vision
- Increased heart rate
- Weakness and fatigue
41Complications of Diabetes Hypoglycemia
- Causes
- Too little food
- Too much insulin
- Extra or vigorous exercise
- Treatment
- Severe symptoms may require administration of
intramuscular glucagon - Fruit juice, carbonated soda, several hard
candies - Follow with some protein and a complex
carbohydrate - Test and monitor blood sugar once symptoms subside
42Complications of Diabetes Hyperglycemia
- Blood glucose greater than 180 mg/dL and stays
there for several readings - Clinical manifestations
- Extreme thirst
- Frequent urination
- Blurred vision
- Drowsiness
- Nausea
- Hunger
43Complications of Diabetes Hyperglycemia
- Causes
- Not enough insulin
- Larger food intake than usual
- Less exercise than usual
- Illness such as cold or flu
- Stresses from family, school, or personal
situations - Treatment
- Push sugar-free liquids
- Insulin
- Activity
44Diabetic Ketoacidosis
- May lead to the initial diagnosis of type 1
diabetes - Often the first symptom that causes the person to
seek medical attention - Pathophysiology
- Occurs when the body attempts to break down fats
to release glucose for energy use - Ketones produced as a byproduct of fat metabolism
- Ketones cannot be used by the cells in the
absence of insulin, causing metabolic acidosis
and inducing ketonuria - Kussmaul respirations develop as the body tries
to rid itself of carbon dioxide - If the acidosis is not corrected acute renal
failure, severe dehydration, coma, and subsequent
death may occur
45Clinical Manifestations of Ketoacidosis
- Polyuria, polydypsia
- Fatigue, headache, and signs of dehydration
- Nausea, vomiting, abdominal pain
- Lethargy
- Tachycardia, fever, hypotension
- Elevated white blood cell count
- Weight loss
- Warm, dry skin
- Kussmaul respirations
46Diabetes Mellitus
- Nursing considerations
- Provide emotional support to both child and
family, especially if a new diagnosis - Continuously monitor vital signs, respiratory
status, and level of consciousness - Monitor hydration status by checking skin turgor,
urine output, and mucous membranes - Administer intravenous fluids as ordered,
possibly including electrolytes to regulate
acidosis and continuous insulin infusion
47Diabetes Mellitus
- Nursing considerations
- Strict intake and output
- Monitor glucose levels with blood or urine
testing as appropriate - When continuous intravenous insulin infusion is
discontinued, administer subcutaneous insulin as
ordered
48Illness Management
- Continue insulin treatment
- Children with type 1 diabetes need insulin to
live. Illness often increases the amount of
insulin the body needs. Instruct parents that
insulin should never be withheld. - Stay close to the meal planIf the child has an
upset stomach and cannot eat, give clear liquids
that contain carbohydrates (sports drinks,
juices, gelatin, broth, frozen fruit bars). - Give plenty of liquidsEncourage the child to
drink as much water and other noncaffeinated
beverages as possible.
49Illness Management
- Choose medications wisely
- Many over-the-counter medications contain sugar
and/or alcohol. - Glucose in medications can rapidly add up
parents should look for a glucose-free version of
the medication. If unavailable, carbohydrates
must be accounted for in the meal plan. - Medicines that contain alcohol can lower blood
glucose levels. Ensure the child eats something
to prevent hypoglycemia. - Alcohol-free medicines are best.
- Many decongestants can raise blood glucose levels.
50Illness Management
- Check blood glucose and ketone levels frequently
- Diabetic ketoacidosis is a danger when the child
is sick. - To prevent the condition or catch it early, check
the childs blood glucose levels often (every few
hours) while sick. - Check the urine for ketones several times a day.
If vomiting or diarrhea is present, check ketones
more frequently.
51Food for Sick Days
- An ill child may not want to eat the foods he or
she normally loves. - The ill child must eat to keep the body from
burning fats for fuel and to speed healing. - Food ideas for the sick child with diabetes
include
- Fluids
- 1 double-stick popsicle
- 1 cup electrolyte sports drink
- 1 cup soup
- 1/2 cup fruit juice
- 1/2 cup regular soft drink (not diet)
- Solids
- Crackers
- Vanilla wafers
- Graham crackers
- 1 slice dry toast (not light bread)
- Mashed potatoes
- Regular gelatin dessert
52Long-Term Complications of Diabetes
- Microvascular problems
- Neuropathy
- Retinopathy
- Nephropathy
- Macrovascular problems
- Peripheral vascular disease
- Atherosclerosis
-
53Developmental Issues
- Infants
- Very rapid growth
- Continuing brain development
- Trusting relationships with the parents
- Erratic eating habits (food can become a power
struggle) - Erratic sleep patterns
- Treatment schedule is difficult to keep because
of feeding and sleeping patterns
54Developmental Issues
- Toddlers
- Can participate in some self-care
- Look for parental approval while they test their
limits - Show decreased appetite and picky eating habits
(easily distracted from eating) - Begin to show more regular sleep patterns
- Difficult to distinguish a low blood sugar
reaction from a normal temper tantrum
55Developmental Issues
- Preschool
- Peer issues begin to emerge
- Can understand rules
- Can perform more self-care, including blood tests
under parental supervision - Eating behavior is less erratic
- Very energetic, so hypoglycemia can be a problem
- Regular sleep patterns
- May be more challenging to provide snacks and
meals that match what siblings and friends eat
56Developmental Issues
- School age
- Fear of being different from other children
- Can perform most self-care, including blood tests
and insulin injections - Eager to learn
- Beginning to understand consequences of their
actions - Tests independent decision making
- Most time spent away from home
57Developmental Issues
- Early adolescence
- Erratic growth, which affects insulin
requirements - Glucose control may be erratic in spite of
everyones best efforts - Concerned about body image
- Greatly influenced by friends
- May challenge authority
- Development of self-esteem
- Beginning to understand abstract concepts
58Developmental Issues
- Adolescence
- Puberty is well underway
- Concerned with physical appearance
- Clearer sense of self (can set goals)
- Increased autonomy
- Risk-taking behaviors, including not taking
insulin and not performing blood sugar tests - Many social activities are unpredictable
- Counseling regarding contraception, alcohol, and
smoking
59Resources for Parents and Children
- American Diabetes Association www.diabetes.org/hom
e.jsp - Children with Diabeteswww.childrenwithdiabetes.co
m/index_cwd.htm