Introduction

The endocrine system controls and regulates metabolism; this includes

energy production, growth, fluid and electrolyte balance, response to stress, and

sexual development. This system has three components: (1) the cell that sends a

chemical message using a hormone; (2) the target cells or organs, which receive

the chemical message; and (3) the environment through which the chemical is

transported from the site of synthesis to the site of cellular action (e.g., blood,

lymph, extracellular fluids). The endocrine glands, which are distributed

throughout the body.

DIABETES INSIPIDUS

Definition

The principal disorder of posterior pituitary hypofunction is diabetes

insipidus (DI), also known as neurogenic DI, resulting from under secretion of

antidiuretic hormone (ADH), or vasopressin (Pitressin), and producing a state of

uncontrolled diuresis. This disorder is not to be confused with nephrogenic DI, a

rare hereditary disorder affecting primarily males and caused by unresponsiveness

of the renal tubules to the hormone.

Causes

Neurogenic DI may result from a number of different causes.

  Primary causes are familial or idiopathic; of the total cases, approximately

20% to 50% are idiopathic.

 Secondary causes include trauma (accidental or surgical), tumors,

granulomatous disease, infections (meningitis or encephalitis), and vascular

anomalies (aneurysm). Certain drugs, such as alcohol and phenytoin

(diphenylhydantoin), can cause a transient polyuria. DI may be an early sign

of an evolving cerebral process.

Clinical manifestation

The cardinal signs of DI are

 polyuria and polydipsia.

 In older children, signs such as excessive urination accompanied by a

compensatory insatiable thirst may be so intense that the child does

little more than go to the toilet and drink fluids. Frequently, the first

sign is enuresis.

 In infants, the initial symptom is irritability that is relieved with

feedings of water but not milk.

 These infants are also prone to dehydration, electrolyte imbalance,

hyperthermia, azotemia, and potential circulatory collapse.

Dehydration is usually not a serious problem in older children, who are able

to drink larger quantities of water. However, any period of unconsciousness (such

as after trauma or anesthesia) may be life threatening because the voluntary

demand for fluid is absent. During such instances, careful monitoring of urine

volumes, blood concentration, and IV fluid replacement is essential to prevent

dehydration.

Diagnostic Evaluation

 The simplest test used to diagnose this condition is restriction of oral

fluids and observation of consequent changes in urine volume and

concentration. Normally, reducing fluid intake results in concentrated

urine and diminished volume.

 In DI, fluid restriction has little or no effect on urine formation but

causes weight loss from dehydration. Accurate results from this

procedure require strict monitoring of fluid intake and urinary output,

measurement of urine concentration (specific gravity or osmolality),

and frequent weight checks.

 A weight loss between 3% and 5% indicates significant dehydration

and requires termination of the fluid restriction. If this test result is

positive, the child should be given a test dose of injected aqueous

vasopressin, which should alleviate the polyuria and polydipsia.

Unresponsiveness to exogenous vasopressin usually indicates

nephrogenic DI.

 An important diagnostic consideration is to differentiate DI from other

causes of polyuria and polydipsia, especially DM. DI may be the early

sign of an evolving cerebral process.

Therapeutic Management

Treatment for DI requires hormone replacement using vasopressin.

Vasopressin is administered by intramuscular or subcutaneous injection or using a

nasal spray of aqueous lysine vasopressin. The injectable form has the advantage

of lasting 48 to 72 hours; however, it has the disadvantage of requiring frequent

injections and proper preparation of the drug.

Nursing Care Management

 An early sign of DI may be sudden enuresis in a child who is toilet

trained.

 Excessive thirst with concurrent bedwetting indicates further

investigation.

 Another clue is persistent irritability and crying in an infant that is

relieved only by bottle feedings of water.

 After head trauma or certain neurosurgical procedures, the development

of DI can be anticipated; therefore, these patients must be closely

monitored.

 Nursing assessment includes frequent measurements of a patient's

weight, serum electrolytes, blood urea nitrogen (BUN), hematocrit, and

urine specific gravity.

 Fluid intake and output should be frequently measured and recorded.

  Alert patients are able to adjust fluid intake but unconscious or very

young patients require closer fluid observation.

 In children who are not toilet trained, collection of urine specimens may

require application of a urine-collecting device.

 After confirmation of DI, parents need comprehensive teaching. Specific

clarification that DI is a different condition from DM should be

reinforced.

 Parents and children must realize that treatment is lifelong.

 Caregivers should be taught the correct procedure for preparation and

administration of vasopressin. When children are old enough, they should

be encouraged to assume full responsibility for their care.

 For emergency purposes, children with DI should wear medical alert

identification. Older children should carry the nasal spray with them for

temporary relief of symptoms.

 School personnel need to be aware of a child's diagnosis so that they can

grant children unrestricted use of the lavatory.

JUVENILE HYPOTHYROIDISM

Definition

Hypothyroidism is a condition in which the thyroid gland, located in the

front of the neck, does not produce enough thyroid hormones, which control

overall metabolism and many bodily functions. Hypothyroidism can have several
causes, including an autoimmune disorder (Hashimoto’s disease), in which the

body’s immune system mistakenly destructs its own thyroid gland.

Hypothyroidism is one of the most common endocrine problems of childhood. It

may be either congenital or acquired and represents a deficiency in secretion of

TH.

Causes

 Beyond infancy, primary hypothyroidism may be caused by a number of

defects. For example, a congenital hypoplastic thyroid gland may provide

sufficient amounts of TH during the first year or two but be inadequate

when rapid body growth increases demands on the gland.

 A partial or complete thyroidectomy for cancer or thyrotoxicosis can

leave insufficient thyroid tissue to furnish hormones for body

requirements.

 Radiotherapy for Hodgkin disease or other malignancies may lead to

hypothyroidism. Infectious processes may cause hypothyroidism.

 It can also occur when dietary iodine is deficient, although it is now rare

because iodized salt is a readily available source of the nutrient.

Clinical manifestation

 Clinical manifestations depend on the extent of dysfunction and the

child's age at onset. Primary congenital hypothyroidism is characterized

by
  low levels of circulating THs and raised levels of TSH at birth.

 If left untreated, congenital hypothyroidism causes decreased mental

capacity.

 The presenting symptoms are decelerated growth from chronic

deprivation of TH or thyromegaly.

 Impaired growth and development are less severe when hypothyroidism

is acquired at a later age, and because brain growth is nearly complete by

2 to 3 years old, intellectual disability and neurologic sequelae are not

associated with juvenile hypothyroidism.

 Other manifestations are myxedematous skin changes (dry skin, puffiness

around the eyes, sparse hair), constipation, lethargy, and mental decline.

Medical management

Therapy is TH replacement, the same as for hypothyroidism in infants,

although the prompt treatment needed in infants is not required in children.

Levothyroxine is administered over a period of 4 to 8 weeks to avoid

symptoms of hyperthyroidism. Children treated early continue to have mild delays

in reading, comprehension, and arithmetic but catch up. However, adolescents may

demonstrate problems with memory, attention, and visuospatial processing.

Nursing Care Management

Growth cessation or retardation in a child whose growth has previously been

normal should alert the observer to the possibility of hypothyroidism. Treatment is

daily oral TH replacement. The importance of daily compliance and the need for

periodic monitoring of serum thyroid levels should be stressed to patients and their

families.

HYPERTHYROIDISM

Definition

Graves disease is the most common cause of hyperthyroidism in children.

This disease often runs in families. Graves disease associated hyperthyroidism is

caused by autoantibodies to the TSH receptor causing excess secretion of TH.

Most cases of Graves disease in children occur in adolescence, with a peak

incidence between 12 and 14 years old. Transient Graves disease may be present at

birth in children of thyrotoxic mothers. The incidence is higher in girls than boys.

There is no cure for Graves disease, and treatment options continue to be debated

among pediatric endocrinologists.

Clinical manifestation

Signs and symptoms of Graves disease develop gradually, with an interval

between onset and diagnosis of approximately 6 to 12 months. Clinical features

include

Cardinal Signs

 Emotional lability
  Physical restlessness, characteristically at rest Decelerated school

performance

 Voracious appetite with weight loss in 50% of cases Fatigue

Physical Signs

 Tachycardia

 Widened pulse pressure Dyspnea on exertion

 Exophthalmos (protruding eyeballs)

 Irritability

 Hyperactivity

 short attention span

 tremors

 insomnia, and

 emotional lability.

 Exophthalmos (protruding eyeballs), which is observed in many children,

is accompanied by a wide-eyed staring expression, increased blinking,

eyelid lag, lack of convergence, and

 absence of wrinkling of the forehead when looking upward. As

exophthalmos progresses, the eyelid may not fully cover the cornea.

 Visual disturbances may include blurred vision and loss of visual acuity.

Eye disease associated with hyperthyroidism can develop before or after

the clinical diagnosis.

  Goiter (hypertrophy and hyperplasia) Warm, moist skin

 Accelerated linear growth

 Heat intolerance (may be severe) Hair fine and unable to hold a curl

Systolic murmurs

Thyroid Storm

 Acute onset:

 Severe irritability and restlessness

 Vomiting

 Diarrhea

 Hyperthermia

 Hypertension

 Severe tachycardia

 Prostration

May progress rapidly to:

 Delirium

 Coma

 Death

Diagnostic Evaluation

Graves disease is established on the basis of increased levels of T4 and T3.

TSH is suppressed to unmeasurable levels. Other tests are rarely indicated.

Therapeutic Management

 Therapy for hyperthyroidism is controversial, but the end goal is the

same—decrease the circulating TH. The three acceptable modes available

are antithyroid drugs, subtotal thyroidectomy, and ablation with

radioiodine (131I iodide). Each therapy has advantages and

disadvantages.

 When affected children exhibit signs and symptoms of hyperthyroidism

(e.g., increased weight loss, pulse, pulse pressure, and blood pressure),

their activity should be limited to classwork only. Vigorous exercise is

restricted until thyroid levels are decreased to normal or near-normal

values.

 Thyrotoxicosis (thyroid “crisis” or thyroid “storm”) may occur from

sudden release of TH. Although thyrotoxicosis is unusual in children, it

can be life threatening.

 Clinical signs of thyroid storm are acute onset of severe irritability and

restlessness, vomiting, diarrhea, hyperthermia, hypertension, severe

tachycardia, and prostration. There may be rapid progression to delirium,

coma, and even death.

 A crisis may be precipitated by acute infection, surgical emergencies, or

discontinuation of antithyroid therapy. In addition to antithyroid drugs,

beta blockers are used to control symptoms until normal thyroid function

is achieved. Therapy is usually required for 2 to 3 weeks.

Nursing Care Management

 Because the clinical manifestations often appear gradually, the goiter and

ophthalmic changes may not be noticed, and the excessive activity may

be attributed to behavioral problems.

 Nurses in ambulatory settings, particularly schools, need to be alert to

signs that suggest this disorder.

 Weight loss despite an excellent appetite, academic difficulties resulting

from a short attention span, inability to sit still, unexplained fatigue and

sleeplessness, and difficulty with fine motor skills such as writing, can all

be signs of this disease.

 Exophthalmos may develop long before the onset of the signs and

symptoms and may be the only presenting sign.

 Nursing care focuses on treating physical symptoms before a response to

drug therapy is achieved.

 Children with hyperthyroidism need a quiet, unstimulating environment

that is conducive to rest. Increased metabolic rate may cause heat

intolerance and increased food intake in these patients.

 Mood swings and irritability can disrupt relationships, creating

difficulties within and outside the home.

 Nurses can help parents understand the medical reason for behavior

changes and offer ways to minimize them.

  A school consultation is important to provide education and suggest ways

to assist a child after diagnosis.

 Nurses should know the side effects of antithyroid drug therapy,

including urticarial rash, fever, arthralgias, vasculitis, liver dysfunction,

and agranulocytosis.

 Lymphadenopathy, edema, and diminished taste can also occur. Parents

must understand the signs of hypothyroidism, which can occur from

overdose.

DIABETES MELLITUS

Definition

DM is a chronic disorder of metabolism characterized by hyperglycemia and

insulin resistance. It is the most common metabolic disease, resulting in metabolic

adjustment or physiologic change in almost all areas of the body.

Types

DM had been classified according to the type of treatment needed. The old

categories were insulin-dependent diabetes mellitus (IDDM), or type I, and non–

insulin-dependent diabetes mellitus (NIDDM), or type II.

Type 1 diabetes is characterized by destruction of the pancreatic beta cells,

which produce insulin; this usually leads to absolute insulin deficiency. Type 1

diabetes has two forms. Immune- mediated DM results from an autoimmune

destruction of the beta cells; it typically starts in children or young adults who are
slim, but it can arise in adults of any age. Idiopathic type 1 refers to rare forms of

the disease that have no known cause.

Type 2 diabetes usually arises because of insulin resistance in which the

body fails to use insulin properly combined with relative (rather than absolute)

insulin deficiency. People with type 2 can range from predominantly insulin

resistant with relative insulin deficiency to predominantly deficient in insulin

secretion with some insulin resistance. It typically occurs in those who are older

than 45 years of age, are overweight and sedentary, and have a family history of

diabetes. The symptomatology of diabetes is more readily recognizable in children

than in adults, so it is surprising that the diagnosis may sometimes be missed or

delayed. Diabetes is a great imitator; influenza, gastroenteritis, and appendicitis are

the conditions most often diagnosed when it turns out that the disease is really

diabetes.

Clinical Manifestations of Type 1 Diabetes Mellitus

• Polyphagia Polyuria Polydipsia Weight loss

• Enuresis or nocturia

• Irritability; “not himself” or “not herself” Shortened attention span

• Lowered frustration tolerance Dry skin

• Blurred vision

• Poor wound healing Fatigue

• Flushed skin Headache Frequent infections Hyperglycemia

 • Elevated blood glucose levels

• Glucosuria

Diabetic ketosis

• Ketones and glucose in urine

• Dehydration in some cases

Diabetic ketoacidosis (DKA)

• Dehydration

• Electrolyte imbalance

• Acidosis

• Deep, rapid breathing (Kussmaul respirations)

• Signs of Hyperglycemia: Severe hyperglycemia is most often caused by illness,

growth, emotional upset, or missed insulin doses. Emotional stress from school

finals or examinations or physical response to immunizations are examples of

causes of hyperglycemia. With careful glucose monitoring, any elevation can be

managed by adjustment of insulin or food intake. Parents should understand

how to adjust food, activity, and insulin at the time of illness or when the child

is treated for an illness with a medication known to raise the blood glucose level

(e.g., steroids). The hyperglycemia is managed by increasing insulin soon after

the increased glucose level is noted. Health care professionals should be aware
 that adolescent girls often become hyperglycemic around the time of their

menses and should be advised to increase insulin dosages if necessary.

• Signs of Hypoglycemia : Hypoglycemia is caused by imbalances of food intake,

insulin, and activity. Ideally, hypoglycemia should be prevented, and parents

need to be prepared to prevent, recognize, and treat the problem. They should

be familiar with the signs of hypoglycemia and instructed in treatment,

including care of the child with seizures. Early signs are adrenergic, including

sweating and trembling, which help raise the blood glucose level, similar to the

reaction when an individual is startled or anxious. The second set of symptoms

that follow an untreated adrenergic reaction is neuroglycopenic (also called

brain hypoglycemia). These symptoms typically include difficulty with balance,

memory, attention, or concentration; dizziness or lightheadedness; and slurred

speech. Severe and prolonged hypoglycemia leads to seizures, coma, and

possible death. Hypoglycemia can be managed effectively as outlined in the

Emergency Treatment box.

Pathophysiology

Insulin is needed to support the metabolism of carbohydrates, fats, and

proteins, primarily by facilitating the entry of these substances into the cells.

Insulin is needed for the entry of glucose into the muscle and fat cells, prevention

of mobilization of fats from fat cells, and storage of glucose as glycogen in the

cells of liver and muscle. Insulin is not needed for the entry of glucose into nerve

cells or vascular tissue. The chemical composition and molecular structure of

insulin are such that it fits into receptor sites on the cell membrane. Here it initiates

a sequence of poorly defined chemical reactions that alter the cell membrane to

facilitate the entry of glucose into the cell and stimulate enzymatic systems outside

the cell that metabolize the glucose for energy production.

With a deficiency of insulin, glucose is unable to enter the cells, and its

concentration in the bloodstream increases.

The increased concentration of glucose (hyperglycemia) produces an osmotic

gradient that causes the movement of body fluid from the intracellular space to the

interstitial space and then to the extracellular space and into the glomerular filtrate

to “dilute” the hyperosmolar filtrate.

Normally, the renal tubular capacity to transport glucose is adequate to reabsorb all

the glucose in the glomerular filtrate.

When the glucose concentration in the glomerular filtrate exceeds the renal

threshold (180 mg/dl), glucose spills into the urine (glycosuria) along with an

osmotic diversion of water (polyuria), a cardinal sign of diabetes.

 The urinary fluid losses cause the excessive thirst (polydipsia) observed in

diabetes.

This water “washout” results in a depletion of other essential chemicals, especially

potassium.

Protein is also wasted during insulin deficiency.

Because glucose is unable to enter the cells, protein is broken down and converted

to glucose by the liver (glucogenesis);

this glucose then contributes to the hyperglycemia.

These mechanisms are similar to those seen in starvation when substrate (glucose)

is absent. The body is actually in a state of starvation during insulin deficiency.

Without the use of carbohydrates for energy, fat and protein stores are depleted as

the body attempts to meet its energy needs.

 The hunger mechanism is triggered, but increased food intake (polyphagia)

enhances the problem by further elevating blood glucose.

Long-Term Complications

Long-term complications of diabetes involve both the microvasculature and

the macrovasculature. The principal microvascular complications are

• Nephropathy,

• Retinopathy, and

• Neuropathy.

Microvascular disease develops during the first 30 years of diabetes,

beginning in the first 10 to 15 years after puberty, with renal involvement

evidenced by proteinuria and clinically apparent retinopathy. Macrovascular

disease develops after 25 years of diabetes and creates the predominant problems

in patients with type 2 DM. The process appears to be one of glycosylation,

wherein proteins from the blood become deposited in the walls of small vessels

(e.g., glomeruli), where they become trapped by “sticky” glucose compounds

(glycosyl radicals). The buildup of these substances over time causes narrowing of

the vessels, with subsequent interference with microcirculation to the affected

areas.
 With poor diabetic control, vascular changes can appear as early as to 3

years after diagnosis; however, with good to excellent control, changes can be

postponed for 20 or more years. Intensive insulin therapy appears to delay the

onset and slow the progression of retinopathy, nephropathy, and neuropathy.

Hypertension and atherosclerotic cardiovascular disease are also major causes of

morbidity and mortality in patients with DM

Other complications have been observed in children with type 1 DM.

Hyperglycemia appears to influence thyroid function, and altered function is

frequently observed at the time of diagnosis and in poorly controlled diabetes.

Limited mobility of small joints of the hand occurs in 30% of 7- to 18- year-old

children with type 1 DM and appears to be related to changes in the skin and soft

tissues surrounding the joint as a result of glycosylation.

Diagnostic Evaluation

Three groups of children who should be considered as candidates for

diabetes are

(1) children who have glycosuria, polyuria, and a history of weight loss or

failure to gain despite a voracious appetite;

(2) those with transient or persistent glycosuria; and

(3) those who display manifestations of metabolic acidosis, with or without

stupor or coma. In every case, diabetes must be considered if there is glycosuria,

with or without ketonuria, and unexplained hyperglycemia.

 Glycosuria by itself is not diagnostic of diabetes. Other sugars, such as

galactose, can produce a positive result with certain test strips, and a mild degree of

glycosuria can be caused by other conditions, such as infection, trauma, emotional

or physical stress, hyperalimentation, and some renal or endocrine diseases.

DM is diagnosed based upon any of the following four abnormal glucose

metabolites:

(1) 8-hour fasting blood glucose level of 126 mg/dl or more,

(2) a random blood glucose value of 200 mg/dl or more accompanied by

classic signs of diabetes,

(3) an oral glucose tolerance test (OGTT) finding of 200 mg/dl or more in

the 2-hour sample, and

(4) hemoglobin A1C of 6.5% or more is almost certain to indicate diabetes.

Postprandial blood glucose determinations and the traditional OGTTs have

yielded low detection rates in children and are not usually necessary for

establishing a diagnosis. Serum insulin levels may be normal or moderately

elevated at the onset of diabetes; delayed insulin response to glucose indicates

impaired glucose tolerance.

Ketoacidosis must be differentiated from other causes of acidosis or coma,

including hypoglycemia, uremia, gastroenteritis with metabolic acidosis, salicylate

intoxication encephalitis, and other intracranial lesions. DKA is a state of relative

insulin insufficiency and may include the presence of hyperglycemia (blood

glucose level ≥200 mg/dl), ketonemia (strongly positive), acidosis (pH <7.30 and

bicarbonate <15 mmol/L), glycosuria, and ketonuria. Tests used to determine

glycosuria and ketonuria are the glucose oxidase tapes (Keto- Diastix).

Therapeutic Management

The management of the child with type 1 DM consists of a multidisciplinary

approach involving the family; the child (when appropriate); and professionals,

including a pediatric endocrinologist, diabetes nurse educator, nutritionist, and

exercise physiologist. Often psychological support from a mental health

professional is also needed. Communication among the team members is essential

and extends to other individuals in the child's life, such as teachers, school nurse,

school guidance counselor, and coach.

 The definitive treatment is replacement of insulin that the child is

unable to produce. However, insulin needs are also affected by

emotions, nutritional intake, activity, and other life events, such as

lllness and puberty.

 The complexity of the disease and its management requires that the

child and family incorporate diabetes needs into their lifestyle.

 Medical and nutritional guidance are primary, but management also

includes continuing diabetes education, family guidance, and

emotional support.

Insulin Therapy
  Insulin replacement is the cornerstone of management of type 1 DM.

 Insulin dosage is tailored to each child based on home blood glucose

monitoring.

 The goal of insulin therapy is maintaining near-normal blood glucose

values while avoiding too frequent episodes of hypoglycemia.

 Insulin is administered as two or more injections per day or as

continuous subcutaneous infusion using a portable insulin pump.

Healthy pancreatic cells secrete insulin at a low but steady basal rate with

superimposed bursts of increased secretion that coincide with intake of nutrients.

Consequently, insulin levels in the blood increase and decrease coincidentally, with

the rise and fall in blood glucose levels. In addition, insulin is secreted directly into

the portal circulation; therefore, the liver, which is the major site of glucose

disposal, receives the largest concentration of insulin. No matter which method of

insulin replacement is used, this normal pattern cannot be duplicated.

Subcutaneous injection results in absorption of the drug into the general

circulation, thus reducing the concentrations of insulin to which the liver is

exposed.

Insulin Preparations

 Insulin is available in highly purified pork preparations and in human

insulin biosynthesized by and extracted from bacterial or yeast

cultures.
  Most clinicians suggest human insulin as the treatment of choice.

Insulin is available in rapid-, intermediate-, and long-acting

preparations; and all are packaged in the strength of 100 units/ml.

 Some insulins are available as premixed insulins, such as 70/30 and

50/50 ratios, the first number indicating the percentage of

intermediate-acting insulin and the second number the percentage of

rapid-acting insulin.

Types of Insulin

There are four types of insulin, based on the following criteria:

• How soon the insulin starts working (onset)

• When the insulin works the hardest (peak time)

• How long the insulin lasts in the body (duration)

However, each person responds to insulin in his or her own way. That is why

onset, peak time, and duration are given as ranges.

Rapid-acting insulin (e.g., NovoLog) reaches the blood within 15 minutes

after injection. The insulin peaks 30 to 90 minutes later and may last as long as 5

hours.

Short-acting (regular) insulin (e.g., Novolin R) usually reaches the blood

within 30 minutes after injection. The insulin peaks 2 to 4 hours later and stays in

the blood for about 4 to 8 hours.

 Intermediate-acting insulins (e.g., Novolin N) reach the blood 2 to 6 hours

after injection. The insulins peak 4 to 14 hours later and stay in the blood for about

14 to 20 hours.

Long-acting insulin (e.g., Lantus) takes 6 to 14 hours to start working. It

has no peak or a very small peak 10 to 16 hours after injection. The insulin stays in

the blood between 20 and 24 hours.

Some insulins come mixed together (e.g., Novolin 70/30). For example, you

can buy regular insulin and NPH insulins already mixed in one bottle, which makes

it easier to inject two kinds of insulin at the same time. However, you cannot adjust

the amount of one insulin without also changing how much you get of the other

insulin. NPH, Neutral protamine Hagedorn.

Nutrition

• Essentially, the nutritional needs of children with diabetes are no different

from those of healthy children. Children with diabetes need no special

foods or supplements.

• They need sufficient calories to balance daily expenditure for energy and to

satisfy the requirement for growth and development.

• Unlike children without diabetes, whose insulin is secreted in response to

food intake, insulin injected subcutaneously has a relatively predictable

time of onset, peak effect, duration of action, and absorption rate

depending on the type of insulin used.

• Consequently, the timing of food consumption must be regulated to

correspond to the timing and action of the insulin prescribed.

• Meals and snacks must be eaten according to peak insulin action, and the

total number of calories and proportions of basic nutrients must be

consistent from day to day.

• The constant release of insulin into the circulation makes the child prone to

hypoglycemia between the three daily meals unless a snack is provided

between meals and at bedtime.

• The distribution of calories should be calculated to fit the activity pattern

of each child. For example, a child who is more active in the afternoon will

need a larger snack at that time. This larger snack might also be split to

allow some food at school and some food after school. Food intake should

be altered to balance food, insulin, and exercise. Extra food is needed for

increased activity. Concentrated sweets are discouraged; and because of

the increased risk of atherosclerosis in persons with DM, fat is reduced to

30% or less of the total caloric requirement.

• Dietary fiber has become increasingly important in dietary planning

because of its influence on digestion, absorption, and metabolism of many

nutrients. It has been found to diminish the rise in blood glucose after

meals.
 • For growing children, food restriction should never be used for diabetes

control, although caloric restrictions may be imposed for weight control if

the child is overweight.

• In general, the child's appetite should be the guide for the amount of

calories needed, with the total caloric intake adjusted to appetite and

activity.

Exercise

Exercise is encouraged and never restricted unless indicated by other health

conditions. Exercise lowers blood glucose levels, depending on the intensity and

duration of the activity. Consequently, exercise should be included as part of

diabetes management, and the type and amount of exercise should be planned

around the child's interests and capabilities. However, in most instances, children's

activities are unplanned, and the resulting decrease in blood glucose can be

compensated for by providing extra snacks before (and if the exercise is prolonged,

during) the activity. In addition to a feeling of well-being, regular exercise aids in

utilization of food and often results in a reduction of insulin requirements.

Child and Family Education

Several organizations are prepared to assist with education and

dissemination of knowledge about diabetes. The American Diabetes Association,

Canadian Diabetes Association, Juvenile Diabetes Research Foundation

International, and American Association of Diabetes Educators§ are valuable

resources for a wide variety of educational materials. The National Institute of

Diabetes and Digestive and Kidney Diseases publishes a number of comprehensive

annotated bibliographies, including “Educational Materials for and About Young

People with Diabetes,” a compilation of resource materials for children, siblings,

parents, teachers, and health professionals, and “Sports and Exercise for People

with Diabetes.”

Hygiene

All aspects of personal hygiene should be emphasized for children with

diabetes. Children should be cautioned against wearing shoes without socks,

wearing sandals, and walking barefoot. Correct nail and extremity care tailored to

the individual child (with the guidance of a podiatrist) can begin health practices

that last a lifetime. These children's eyes should be checked once a year unless the

child wears glasses and then as directed by the ophthalmologist. Regular dental

care is emphasized, and cuts and scratches should be treated with plain soap and

water unless otherwise indicated. Diaper rash in infants and candidal infections in

teens may indicate poor diabetes control.

Record Keeping

Home records are an invaluable aid to diabetes self-management. The nurse

and family devise a method to chart insulin administered, blood glucose values,

urine ketone results, and other factors and events that affect diabetes control. The

child and family are encouraged to observe for patterns of blood glucose responses
to events such as exercise. If lapses in management occur (e.g., eating a candy bar),

the child should be encouraged to note this and not be criticized for the

transgression.

Self-Management

Self-management is the key to close control. Being able to make changes

when they are needed rather than waiting until the next contact with health care

professionals is important for self- management and gives the individual and

family the feeling that they have control over the disease. Psychologically, this

helps family members believe they are useful and participating members of the

team. Allowing the child to learn to look at records objectively promotes

independence in self- management support. As children grow and assume more

responsibility for self-management, they develop confidence in their ability to

manage their disease and confidence in themselves as persons. They learn to

respond to the disease and to make more accurate interpretations and changes in

treatment when they become adults.

GALACTOSEMIA

Definition
 Galactosemia is a rare autosomal recessive disorder that results from various

gene mutations leading to three distinct enzymatic deficiencies. The most common

type of galactosemia (classic galactosemia) results from a deficiency of a hepatic

enzyme, galactose 1-phosphate uridyltransferase (GALT), and affects

approximately 1 in 50,000 births. The other two varieties of galactosemia involve

deficiencies in the enzymes galactokinase (GALK) and galactose 4′-epimerase

(GALE); these are extremely rare disorders. All three enzymes (GALT, GALK,

and GALE) are involved in the conversion of galactose into glucose.

Clinical manifestation

• As galactose accumulates in the blood, several organs are affected.

Hepatic dysfunction leads to cirrhosis, resulting in jaundice in the infant

by the second week of life.

• The spleen subsequently becomes enlarged as a result of portal

hypertension.

• Cataracts are usually recognizable by 1 or 2 months of age; cerebral

damage, manifested by the symptoms of lethargy and hypotonia, is

evident soon afterward. Infants with galactosemia appear normal at birth,

but within a few days of ingesting milk (which has a high lactose

content), they begin to experience vomiting and diarrhea, leading to

weight loss. E. coli sepsis is also a common presenting clinical sign.

Death during the first month of life is frequent in untreated infants.

 • Occasionally classic galactosemia is seen with milder, chronic

manifestations, such as growth failure, feeding difficulty, and

developmental delay. This presentation is more frequent among African-

American children with galactosemia

Diagnostic Evaluation

• Diagnosis is made on the basis of the infant's history, physical

examination, galactosuria, increased levels of galactose in the blood, and

decreased levels of GALT activity in erythrocytes.

• The infant may display characteristics of malnutrition; hypoglycemia,

jaundice, hepatosplenomegaly, sepsis, cataracts, and decreased muscle

tone. Newborn screening for this disease is required in most states.

• Heterozygotes can also be identified because heterozygotic individuals

have significantly lower levels of the essential enzyme.

Therapeutic Management

• During infancy, treatment consists of eliminating all milk and lactose-

containing formula, including breast milk. Traditionally, lactose-free formulas

are used, with soy-protein formula being the feeding of choice; however, some

research suggests that elemental formula (galactose-free) may be more

beneficial than soy formulas. However, the American Academy of Pediatrics

recommends the use of soy protein–based formula for infants with

 galactosemia, and it is considerably less expensive than elemental formula. As

the infant progresses to solids, only foods low in galactose should be consumed.

• Certain fruits are high in galactose, and some dietitians recommend that they be

avoided. Food lists should be given to the family to ensure that appropriate

foods are chosen.

• If galactosemia is suspected, supportive treatment and care are implemented,

including monitoring for hypoglycemia, liver failure, bleeding disorders, and E.

coli sepsis.

Prognosis

• Follow-up studies of children treated from birth or within the first 2

months of life after symptoms appear have found long-term

complications, such as hypogonadism, cognitive impairment, growth

restriction, and verbal and motor delays.

• These findings have revealed that eliminating sources of galactose does

not significantly improve the outcome.

• New therapeutic strategies, such as enhancing residual transferase

activity, replacing depleted metabolites, and using gene replacement

therapy, are needed to improve the prognosis for these children.

Nursing Care Management

• Nursing interventions are similar to those for PKU except that dietary

restrictions are easier to maintain because many more foods are allowed.
 However, reading food labels carefully for the presence of any form of

lactose, especially dairy products, is mandatory.

• Many drugs, such as some of the penicillin preparations, contain lactose

as filler and also must be avoided. Unfortunately, lactose is an unlabeled

ingredient in many pharmaceuticals.

• Therefore, instruct parents to ask their local pharmacist about galactose

content of any over-the-counter or prescription medication.

PHENYLKETONURIA

Definition

Phenylketonuria, an inborn error of metabolism inherited as an autosomal

recessive trait (the PAH gene is located on chromosome 12q24), is caused by a

deficiency or absence of the enzyme needed to metabolize the essential amino acid

phenylalanine. Classic PKU is at one end of a spectrum of conditions known as

hyperphenylalaninemia problems.

Clinical manifestation

Clinical manifestations in untreated PKU include

 failure to thrive (growth failure);

 frequent vomiting; irritability;

 hyperactivity; and unpredictable, erratic behavior.

  Cognitive impairment is thought to be caused by the accumulation of

phenylalanine and presumably by decreased levels of the neurotransmitters

dopamine and tryptophan, which affect the normal development of the brain

and CNS, resulting in defective myelinization, cystic degeneration of the

gray and white matter, and disturbances in cortical lamination.

 Older children commonly display bizarre or schizoid behavior patterns such

as fright reactions, screaming episodes, head banging, arm biting,

disorientation, failure to respond to strong stimuli, and catatonia-like

positions.

Diagnostic Evaluation

 The objective in diagnosing and treating the disorder is to prevent

cognitive impairment. Every newborn should be screened for PKU.

 The most commonly used test for screening newborns is the Guthrie

blood test, a bacterial inhibition assay for phenylalanine in the blood.

Bacillus subtilis, present in the culture medium, grows if the blood

contains an excessive amount of phenylalanine.

 If performed properly, this test detects serum phenylalanine levels greater

than 4 mg/dl (normal value, 1.6 mg/dl), but it will not quantify the

results. Other methods for testing include quantitative fluorometric assay

and tandem mass spectrometry, which will give an absolute value. Only

fresh heel blood, not cord blood, can be used for the test.
  Avoid “layering” the blood specimen on the special Guthrie paper.

Layering is placing one drop of blood on top of the other or overlapping

the specimen. This practice results in a falsely high reading, or false

positive, which will lead the newborn screening department to call the

family and physician to arrange for a diagnostic blood phenylalanine test

to determine whether the newborn truly has PKU.

 Best results are obtained by collecting the specimen with a pipette from

the heel stick and spreading the blood uniformly over the blot paper.

Because of the possibility of variant forms of hyperphenylalaninemia,

 PKU cofactor variant screen should be performed in all children

diagnosed with PKU. A major concern is that a significant number of

infants are not rescreened for PKU after early discharge and are at risk

for a missed or delayed diagnosis.

 Give special consideration to screening infants born at home who have no

hospital contact and infants adopted internationally.

Therapeutic Management

Treatment of PKU involves restricting phenylalanine in the diet. Because the

genetic enzyme is intracellular, systemic administration of phenylalanine

hydroxylase is of no value. Phenylalanine cannot be eliminated because it is an

essential amino acid in tissue growth. Therefore, dietary management must meet

two criteria:

(1) meet the child's nutritional need for optimum growth and

(2)maintain phenylalanine levels within a safe range (2 to 6 mg/dl in

neonates and children up to 12 years old, and 2 to 10 mg/dl through adolescence).

• Professionals agree that infants with PKU who have blood phenylalanine levels

higher than 10 mg/dl should be started on treatment to establish metabolic

control as soon as possible, ideally by 7 to 10 days of age. The daily amounts of

phenylalanine are individualized for each child and require frequent changes on

the basis of appetite, growth and development, and blood phenylalanine and

tyrosine levels.

• Because all natural food proteins contain phenylalanine and will be limited, the

diet must be supplemented with a specially prepared phenylalanine-free formula

(e.g., Phenex-1 for infants or Phenex-2 for children and adults).

• The phenylalanine-free formula is an amino acid–modified formula essential in

the low phenylalanine diet to provide the appropriate protein, vitamins,

minerals, and calories for optimal growth and development.

• Because tyrosine becomes an essential amino acid, the phenylalanine-free

formula supplies an adequate amount, but in some cases, additional

supplementation may be needed. The phenylalanine-free amino acid–modified

formula for infants has all the nutrients necessary for adequate infant growth.
 • Because of the low phenylalanine content of breast milk, total or partial

breastfeeding may be possible with close monitoring of phenylalanine levels.

• When treatment for PKU was first instituted, it was believed that phenylalanine

withdrawal during only the first 3 years of age would suffice to avoid cognitive

impairment and other deleterious manifestations of PKU.

• However, most clinicians now agree that to achieve optimal metabolic control

and outcome, a restricted phenylalanine diet, including medical foods and low-

protein products, most likely will be medically required for virtually all

individuals with classic PKU for their entire lives.

• Such lifetime reduction of phenylalanine intake is necessary to prevent

neuropsychological and cognitive deficits because even mild

hyperphenylalaninemia (20 mg/dl) would produce such effects.

• To evaluate the effectiveness of dietary treatment, frequent monitoring of blood

phenylalanine and tyrosine levels is necessary.

• Phenylalanine levels greater than 6 mg/dl in mothers with PKU affect the

normal embryologic development of the fetus, including cognitive impairment,

cardiac defects, and LBW.

• It is recommended that phenylalanine levels below 6 mg/dl be achieved at least

3 months before conception in women with PKU.

Prognosis

• Although many individuals with treated PKU manifest no cognitive and

behavioral deficits, many comparisons of individuals with PKU with control

 participants show lower performance on IQ tests, with larger differences in

other cognitive domains;

• however, their performance is still in the average range. Evidence for

differences in behavioral adjustment is inconsistent despite anecdotal reports

suggesting greater risk for internalizing psychopathology and attention

disorders.

• In addition, insufficient data are available on the effects of phenylalanine

restriction over many decades of life.

Nursing Care Management

• The principal nursing considerations involve teaching the family regarding the

dietary restrictions. Although the treatment may sound simple, the task of

maintaining such a strict dietary regimen is demanding, especially for older

children and adolescents.

• In addition, mothers of children with PKU may have to spend many hours

preparing special foods, such as low-phenylalanine snacks.

• Foods with low phenylalanine levels (e.g., vegetables, fruits, juices, and some

cereals, breads, and starches) must be measured to provide the prescribed

amount of phenylalanine. High-protein foods, such as meat and dairy products,

are eliminated from the diet.

• The sweetener aspartame (NutraSweet) should be avoided because it is

composed of two amino acids, aspartic acid and phenylalanine, and if used will

decrease the amount of natural phenylalanine that is prescribed for the day.
• However, medications that use aspartame as the sweetener may be used if no

other nonaspartame medications are available because the content of the

artificial sweetener is minimal or can be counted in the total daily phenylalanine

allowance.

• Maintaining the diet during infancy presents few problems. Solid foods such as

cereal, fruits, and vegetables are introduced as usual to the infant. Difficulties

arise as the child gets older. Studies show a gradual decline in diet compliance

with consequent increases in blood phenylalanine levels during early

adolescence and young adulthood

• A decreased appetite and refusal to eat may reduce intake of the calculated

phenylalanine requirement. The child's increasing independence may also

inhibit absolute control of what he or she eats.

• Either factor can result in decreased or increased phenylalanine levels. During

the school years, peer pressure becomes a major force in deterring the child

from eating the prescribed foods or abstaining from high-protein foods, such as

milkshakes and ice cream.

• Limitations of this diet are best illustrated by an example: a quarter-pound

hamburger may provide a 2-day phenylalanine allowance for a school-age

child.

• The assistance of a registered dietitian is essential. Parents need a basic

understanding of the disorder and practical suggestions regarding food selection

and preparation.
• Meal planning is based on weighing the food on a gram scale; a less accurate

method is the exchange list. As soon as children are old enough, usually by

early preschool, they should be involved in the daily calculation, menu

planning, and formula preparation.

• Using a computer, voice-activated calculator, cards, or colored beads can help

children keep track of the daily allowance of phenylalanine foods. A system of

goal setting, self-monitoring, contracts, and rewards can promote compliance in

adolescents.

• Preparation of the phenylalanine-free formula can present some challenges. The

formula tends to be lumpy; mixing the powder with a small amount of water to

make a paste and then adding the rest of the required liquid, helps alleviate this

problem.

• A blender or mixer dissolves the powder more easily; a rechargeable hand

mixer can be used when traveling. Although the taste is virtually impossible to

camouflage, many new products are on the market today. Some of the complete

formulas are chocolate, vanilla, strawberry, and orange flavored.

• Incomplete formulas are also available that do not contain the vitamins and

minerals and are plain tasting; these can be added to cold foods instead of

mixing them as a formula.

• Formula bars are convenient for active adolescents.

• Formula capsules are also available, but the patient would need to take 20 or

more capsules per day.

Conclusion

A child’s growth from infancy to adulthood requires endocrine system to

function properly and effectively. If there’s a deficiency or excess of hormones, a

child’s growth may get compromised. In simple terms, too much of a certain

hormone or lack of it can lead to an imbalance in the body, which can be termed as

endocrine disorders. Some disorders may require medication while some life-

threatening diseases may entail surgeries. Problems with growth, puberty, and

sexual development often have their roots in the endocrine system. However, a fair

understanding of endocrine disorders can help give care and attention for child at

the earliest.

Bibliography

1. Abraham, “A Text Book of Paediatrics” 1 st edition 2007 Published

by Mc. Graw Hill International Company Singapore

2. Beharmann, “A Text Book of Paediatrics” 1 st edition 2000 Published

by Harcourt Ara Pvt Ltd Singapore

3. Catherine, E. “A Text Book of Paediatrics” 1st edition 1990 Published

by W.B.Saunders Company Philadelphia.

4. Marlow, Barbara ”A Text Book of Pediatric Nursing” 6 th edition

2003 Published Elsevier publication

5. Parul dutta, “Paediatric Nursing” 2 nd edition 2007 Published by

Jaypee brothers publishers New delhi

 CHILD WITH ENDOCRINE DISORDERS

S. No Table of content Page No

1 Introduction 1

2 Diabetes insipidus 1-5

3 Hypothyroidism 5-7

4 Hyperthyroidism 7-11

5 Diabetes mellitus 11-28

6 Galactosemia 29-32

7 Phenylketonuria 32-39

8 Conclusion 40

9 Bibliography 40
 SEMINAR ON
CHILD WITH ENDOCRINE
DISORDERS

SUBMITTED TO
MRS. CHITRADEVI M. Sc(N).,
ASSISTANT PROFESSOR,
CHILD HEALTH NURSING,
RASS ACADEMY COLLEGE OF NURSING
SUBMITTED BY
MRS. MARIA SOOSAI SUGANTHI P,
II YEAR M.Sc (N),
CHILD HEALTH NURSING,
RASS ACADEMY COLLEGE OF NURSING