Congenital Adrenal Hyperplasia

1
Congenital 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

2
Cortisol

• Maintenance of blood sugar levels
• Partial maintenance of body fluids and
  electrolytes
• Protection of the body against stress

3
Normal 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)

4
Cortisol

• 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.

5
Aldosterone

• 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.

6
Adrenal Androgens

• Responsible for the development of pubic and
  axillary hair in girls
• Testicular androgens play the major role in male
  masculinization

7
Adrenal Function and 21-Hydroxylase Deficiency

• Three forms of 21-hydroxylase deficiency
• Salt losing
• Simple virilizing
• Late onset or nonclassic

8
Salt-Losing Form of CAH

• Near-total deficiency of the 21-hydroxylase
  enzyme
• Results in the complete inability to produce
  cortisol and aldosterone

9
Salt-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

10
Simple 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

11
Simple 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

12
Adrenal 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

13
Nonclassic 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

14
Nonclassic or Late-Onset CAH

• Normal cortisol
• Normal aldosterone
• Increased 17-hydroxyprogesterone (moderate)
• Increased androgens masculinization

15
Diagnostic 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

16
Treatment

• 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

17
Nursing 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

18
Inborn 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

19
What 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

20
Types 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

21
Diagnosis

• 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

22
Type 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

23
Type 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

24
Type 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

25
Pathophysiology of Type 1 Diabetes Mellitus
26
Type 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

27
Insulin 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
28
Insulin 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

29
Insulin 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

30
Insulin Delivery Systems

• Current systems
• Syringes
• Insulin pens
• Insulin pumps
• Future delivery systems (Not yet FDA approved)
• Powdered inhalers
• Nebulizers

31
Monitoring

• 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?

32
Child Monitoring Blood Glucose Level
33
Detection 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

34
Type 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.

35
Type 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

36
Type 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

37
Treatment 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

38
Benefits 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

39
Diets

• 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

40
Complications 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

41
Complications 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

42
Complications 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

43
Complications 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

44
Diabetic 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

45
Clinical 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

46
Diabetes 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

47
Diabetes 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

48
Illness 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.

49
Illness 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.

50
Illness 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.

51
Food 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

52
Long-Term Complications of Diabetes

• Microvascular problems
• Neuropathy
• Retinopathy
• Nephropathy
• Macrovascular problems
• Peripheral vascular disease
• Atherosclerosis

53
Developmental 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

54
Developmental 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

55
Developmental 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

56
Developmental 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

57
Developmental 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

58
Developmental 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

59
Resources for Parents and Children

• American Diabetes Association www.diabetes.org/hom
  e.jsp
• Children with Diabeteswww.childrenwithdiabetes.co
  m/index_cwd.htm