FINALS NOTES (ENDOCRINE)
hypoadrenalism, hypoaldosteronism, and
Endocrine or a Metabolic Disorder
PITUITARY GLAND DISORDER
Result from:
• A tumor growing in either the pituitary gland
or the hypothalamus
• Interference with circulation to the gland
• Trauma
• Inflammation
• Structural abnormalities
• Erratic or nonfunctional feedback
mechanisms
• Possibly autoimmune responses
1. GROWTH HORMONE DEFICIENCY
• If production of human growth hormone (GH,
or somatotropin) is deficient, children are not
able to grow to full size.
• May result from a nonmalignant cystic tumor
of embryonic origin that places pressure on the
pituitary gland or from increased intracranial
pressure as a result of trauma.
• In most children with hypopituitarism,
however, the cause of the defect is unknown; it
may have a genetic origin.
Assessment
• Usually normal in size and weight at birth.
• Fall below the third percentile of height and
weight on growth charts.
• The face appears infantile.
• The nose is usually small.
• Teeth may be crowded in a small jaw and
may erupt late.
• Voice may be high pitched.
• Onset of pubic, facial, and axillary hair and
genital growth will be delayed.
• A pituitary tumor must be ruled out as the
cause of decreased GH production.
• Sudden halted growth suggests a tumor.
• Gradual failure suggests an idiopathic
involvement.
• A history of vision loss, headache, an increase
in head circumference, nausea, and vomiting
also suggest a pituitary tumor.
• Evaluate the family history for traits of short
stature or constitutional delay (familial late
development).
• If possible, obtain estimates of the parents’
height and siblings’ height and weight during
their periods of growth.
• Assess the prenatal and birth history for
intrauterine growth restriction.
• Assess for any severe head trauma that could
have injured the pituitary gland or chronic
illness that could have contributed to the
decreased level of growth.
• Take a 24-hour nutrition history to see if
“picky eating habits” are extensive enough to
halt growth.
• Be certain to assess not only the child’s actual
height but also his or her feelings about being
short.
• A physical assessment, including a
funduscopic examination, neurologic testing,
and blood analysis for hypothyroidism,
growth factor–binding proteins are also helpful
in ruling out a lesion or tumor.
• Bone age is established by a wrist X-ray.
• A skull series, computed tomography (CT)
scanning, magnetic resonance imaging (MRI),
or ultrasound will be prescribed to detect
possible enlargement of the sella turcica, which
would suggest a pituitary tumor.
Therapeutic Management
• GH deficiency is treated by the administration
of intramuscular recombinant human growth
hormone (rhGH) usually given daily at bedtime,
the time of day at which GH normally peaks.
• Some children may need suppression of
luteinizing hormone - releasing hormone
(LHRH, or gonadotropin releasing hormone
[GnRH]) to delay epiphyseal closure.
• Other children may need supplements of
gonadotropin or other pituitary hormones if
these are determined to be deficient as well.
2. GROWTH HORMONE EXCESS
• Usually is caused by a benign tumor of the
anterior pituitary (an adenoma).
• If the overproduction occurs before the
epiphyseal lines of the long bones have closed,
excessive or overgrowth will result.
• Weight will also become excessive, but it is
proportional to height.
• The skull circumference typically exceeds
usual, and the fontanels may close late or not
at all.
• After epiphyseal lines close, acromegaly
begins to be evident.
• The tongue can become so enlarged and
thickened that it protrudes from the mouth,
giving the child a dull, apathetic appearance
and making it difficult to articulate words.
• If X-rays or ultrasounds of the skull reveal that
the sella turcica is enlarged or that a tumor is
present, laser surgery to remove the tumor or
cryosurgery (freezing of tissue) is the primary
treatment.
• If no tumor is present, a GH antagonist such
as bromocriptine (Parlodel) taken orally or
octreotide (Sandostatin) taken by injection can
slow the production of GH.
• When GH secretion is halted in this way,
other hormones may also be affected;
therefore, the child may need to receive
supplemental thyroid extract, cortisol, and
gonadotropin hormones in later life.
• A more permanent therapy is irradiation or
radioactive implants of the pituitary gland.
• Counseling about maintaining self-esteem
and making the adjustments necessary to
accommodate larger-than-usual size.
3. DIABETES INSIPIDUS
• There is decreased release of ADH by the
pituitary gland.
• Causes less reabsorption of fluid in the kidney
tubules.
• Urine becomes extremely dilute, and a great
deal of fluid is lost from the body.
• May reflect an X-linked dominant trait, or
transmitted by an autosomal recessive gene.
• May result from a lesion, tumor, or injury to
the posterior pituitary.
• May have an unknown cause.
• In a rare type of diabetes insipidus, pituitary
function is adequate, but the kidneys’ nephrons
are not sensitive to ADH.
Assessment
• The child with diabetes insipidus experiences
excessive thirst (polydipsia) that is relieved only
by drinking large amounts of water; there is
accompanying polyuria.
• The specific gravity of the urine will be as low
as 1.001 to 1.005 (normal values are more
often 1.010 to 1.030).
• Urine output may reach 4 to 10 L in a 24-hour
period (normal range, 1 to 2 L), depending on
age. • Sodium becomes concentrated or
hypernatremia occurs with symptoms of
irritability, weakness, lethargy, fever,
headache, and seizures.
• The signs and symptoms usually appear
gradually.
• Parents may notice the polyuria first as bed-
wetting in a toilet-trained child or weight loss
because of the large loss of fluid.
• If the condition remains untreated, the child
is in danger of losing such a large quantity of
water that dehydration and death can result.
• MRI, CT scanning, or an ultrasound study of
the skull reveals whether a lesion or tumor is
present. • Administration of vasopressin
(Pitressin) to rule out kidney disease. The drug
decreases the blood pressure, alerting the
kidney to retain more fluid in order to maintain
vascular pressure. If the fault that is causing the
dilute urine is with the pituitary gland, the
urine output will decrease. If the fault is with
the kidneys, urine will remain dilute and
excessive in amount.
Therapeutic Management
• Surgery is the treatment of choice if a tumor
is present.
• If the cause is idiopathic, the condition can be
controlled by the administration of
desmopressin (DDAVP), an arginine
vasopressin.
• In an emergency, this drug can be given
intravenously (IV).
• For long-term use, it is given intranasally or
orally.
4. SYNDROME OF INAPPROPRIATE
ANTIDIURETIC HORMONE
• A rare condition in which there is
overproduction of ADH by the posterior
pituitary gland.
• Results in a decrease in urine production,
which leads to water intoxication.
• As sodium levels fall in proportion to water,
the child develops hyponatremia or a lowered
sodium plasma level.
• SIADH can be caused by central nervous
system infections such as bacterial meningitis,
long-term positive pressure ventilation, or
pituitary compression such as could occur from
edema or a tumor.
• Mild symptoms of hyponatremia are weight
gain, concentrated urine, nausea, and vomiting.
• As the hyponatremia grows more severe,
coma or seizures occur from brain edema.
• Therapy consists of restriction of fluid and
supplementation of sodium by IV fluid if
needed. • Demeclocycline (Declomycin), a
tetracycline antibiotic that has the side effect of
blocking the action of ADH in renal tubules and
reducing resorption of water, may be
prescribed.
THYROID GLAND DISORDER
1. CONGENITAL HYPOTHYROIDISM
• Thyroid hypofunction causes reduced
production of both T4 and T3.
• Congenital hypofunction occurs as a result of
an absent or nonfunctioning thyroid gland in a
newborn.
• The increased incidence is associated with
whites,.
• Is evident more in infant girls than boys, and
in newborns of either low birth weight or a
birth weight over 4,500 g.
• May not be noticeable at birth because the
mother’s thyroid hormones, unless she
ingested less than usual amounts of iodine,
maintain adequate levels in the fetus during
pregnancy.
• The symptoms become apparent during the
first 3 months of life in a formula-fed infant and
at about 6 months in a breastfed infant.
• Because congenital hypothyroidism leads to
both severe, progressive physical and cognitive
challenges, early diagnosis is crucial.
Assessment
• A screening test for hypothyroidism is
mandatory at birth in the United States. If an
infant should miss this screening procedure, an
early sign that is that the child sleeps
excessively, but because the tongue is
enlarged, they notice respiratory difficulty,
noisy respirations, or obstruction.
• May suck poorly because of sluggishness or
choking from the enlarged tongue.
• The skin of the extremities feels cold, dry, and
perhaps scaly, and the child does not perspire
• Pulse, respiratory rate, and body temperature
all become subnormal.
• Prolonged jaundice may be present.
• Anemia may increase the child’s lethargy and
fatigue.
• On a physical exam, the hair is brittle and dry,
and the child’s neck appears short and thick.
• The facial expression is dull and open
mouthed because of the infant’s attempts to
breathe around the enlarged tongue.
• The extremities appear short and fat.
• As muscles become hypotonic, deep tendon
reflexes decrease and the infant develops a
floppy, rag-doll appearance.
• Generalized obesity usually occurs.
• Dentition will be delayed, or teeth may be
defective when they do erupt.
• The hypotonia affects the intestinal tract, so
the infant develops chronic constipation; the
abdomen enlarges because of intestinal
distention and poor muscle tone.
• Many infants have an umbilical hernia.
• Infants have low radioactive iodine uptake
levels, low serum T4 and T3 levels, and
elevated thyroid-stimulating factor.
• Blood lipids are increased.
• An X-ray may reveal delayed bone growth.
• An ultrasound reveals a small or absent
thyroid gland.
Therapeutic Management
• Transient hypothyroidism usually fades by 3
months’ time.
• Oral administration of synthetic thyroid
hormone (sodium levothyroxine).
• A small dose is given at first, and then the
dose is gradually increased to therapeutic
levels.
• Supplemental vitamin D may also be given to
prevent the development of rickets when, with
the administration of thyroid hormone, rapid
bone growth begins.
• Any degree of impairment that was already
present cannot be reversed, making the
disorder one of the most preventable causes of
mental development delay known.
• If the dose of thyroid hormone is not
adequate, the T4 level will remain low and
there will be few signs of clinical improvement.
• If the dose is too high, the T4 level will rise
and the child will show signs of
hyperthyroidism: irritability; fever; rapid pulse;
and perhaps vomiting, diarrhea, and weight
loss.
2. ACQUIRED HYPOTHYROIDISM (HASHIMOTO
THYROIDITIS)
• The most common form of acquired
hypothyroidism in childhood.
• The age at onset is most often 10 to 11 years.
• There may be a family history of thyroid
disease. • It occurs more often in girls than in
boys.
• The decrease in thyroid secretion is caused by
the development of an autoimmune
phenomenon that interferes with thyroid
production.
Assessment
• The excretion of thyroid-stimulating hormone
(TSH) from the pituitary increases when thyroid
hormone production decreases in an attempt
by the pituitary gland to increase thyroid
function.
• In response to the increased level of TSH,
hypertrophy of the thyroid gland (goiter) can
occur
• Body growth is impaired by a lack of T4, with
prominent symptoms of obesity, lethargy, and
delayed sexual development.
• Antithyroid antibodies will be present in
serum if the illness was caused by an
autoimmune process.
• If the thyroid enlarges, it may become
nodular as well.
• Although in childhood, a nodular thyroid is
usually benign, an investigation into the
possibility this could be a thyroid malignancy
must be considered.
• For diagnosis, children are administered
radioactive iodine.
• If the nodes are benign, there is generally a
rapid uptake of radioactive iodine (“hot
nodes”). • If there is no uptake (“cold nodes”),
carcinoma is a much more likely diagnosis
(which is rare at this age)
Therapeutic Management
• Administration of synthetic thyroid hormone
(sodium levothyroxine), the same as for
congenital hypothyroidism.
• With adequate dosage, the obesity
diminishes and growth begins again.
• If acquired hypothyroidism exists in a woman
during pregnancy, her infant can be born
cognitively challenged because there was not
enough iodine present for fetal growth.
3. HYPERTHYROIDISM (GRAVES DISEASE)
• Graves disease develops in the newborns of
1% to 2% of pregnant women who have the
disease. • Like transient hypothyroidism, this
usually resolves between 3 to 12 weeks of age
with no long-term results as the maternal
antibodies are cleared.
• In older children, overactivity of the thyroid
gland can occur from the glands being
overstimulated by TSH from the pituitary gland
due to a pituitary tumor.
• More frequently, hyperthyroidism in children
is caused by an autoimmune reaction that
results in overproduction of immunoglobulin G
(IgG), which stimulates the thyroid gland to
overproduce T4.
Assessment
• They always feel hungry and, although they
eat constantly, do not gain weight and may
even lose weight because of the increased
basal metabolic rate.
• On X-ray, bone age will appear advanced
beyond the chronologic age.
• The thyroid gland, which usually is not
prominent in children, appears as a swelling on
the anterior neck as goiter develops.
• They always feel hungry and, although they
eat constantly, do not gain weight and may
even lose weight because of the increased
basal metabolic rate.
• On X-ray, bone age will appear advanced
beyond the chronologic age.
• The thyroid gland, which usually is not
prominent in children, appears as a swelling on
the anterior neck as goiter develops.
• In a few children, the eye globes become
prominent (exophthalmia), giving the child a
wide-eyed, staring appearance.
• Laboratory tests show elevated T4 and T3
levels and increased radioactive iodine uptake.
• Ultrasound will reveal the enlarged thyroid
Therapeutic Management
• Therapy consists first of a β-adrenergic
blocking agent, such as propranolol, to
decrease the antibody response.
• After this, the child is placed on an
antithyroid drug, such as propylthiouracil (PTU)
or methimazole (Tapazole), to suppress the
formation of T4.
• While the child is taking these drugs, the
blood is monitored for leukopenia and
thrombocytopenia as side effects of these
drugs.
• If either of these results, the drug is
discontinued until the white blood cell or
platelet count returns to normal, so the child
does not develop an infection or experience
spontaneous bleeding.
• The child needs to continue to take the drug
for 2 to 3 years before the condition “burns
itself out.”
• The exophthalmos may not recede, but it will
not become worse once therapy is instituted.
• If the child has a toxic reaction to medical
management or is noncompliant about taking
the medicine, radioiodine ablative therapy with
131I or thyroid surgery to reduce the size of the
thyroid gland can be accomplished.
• Hyperthyroidism during pregnancy can lead
to neonatal hyperthyroidism in a fetus.
ADRENAL GLAND DISORDERS
Disorders of the adrenal glands cause either
hypofunction, which can lead to acute or
chronic production of necessary hormones, or
hyperfunction (overactivity), which most often
leads to overproduction of androgen or
cortisol.
1. ACUTE ADRENOCORTICAL INSUFFICIENCY
• Insufficiency of the adrenal gland can occur in
either an acute or chronic form.
• In either type, the function of the entire gland
suddenly becomes nonproductive.
• Usually, this occurs following a severe
overwhelming body infection such as
meningococcemia.
• It also can occur when corticosteroid therapy
such as prednisone, which has been maintained
at high levels for a long period, is abruptly
stopped and the gland does not return to usual
function.
Assessment
• The child’s blood pressure drops to extremely
low levels,
• The child appears ashen gray, and the pulse
will be weak.
• Temperature gradually becomes elevated;
dehydration and hypoglycemia become marked
because cortisol is no longer present to
regulate this.
• As sodium and chloride blood levels fall from
a lack of aldosterone production, the potassium
level becomes elevated.
• The child appears prostrate and seizures may
occur.
• Without treatment, death can occur abruptly
Therapeutic Management
• Acute adrenocortical insufficiency is a medical
emergency.
• Immediate replacement of cortisol (with IV
hydrocortisone sodium succinate [Solu-Cortef]).
• Administration of deoxycorticosterone
acetate (DOCA), the synthetic equivalent of
aldosterone.
• IV 5% glucose in normal saline solution to
restore blood pressure, sodium, and blood
glucose levels.
• A vasoconstrictor may be necessary to
elevate the blood pressure.
2. CONGENITAL ADRENAL HYPERPLASIA
• A syndrome that is inherited as an autosomal
recessive trait and which causes the adrenal
glands to not be able to synthesize cortisol.
• Because the adrenal gland is unable to
produce cortisol, the level of ACTH secreted by
the pituitary increases in an attempt to
stimulate the gland to increase function.
• Although the adrenals enlarge (hyperplasia)
under the effect of ACTH, they still cannot
produce cortisol; instead, they overproduce
androgen.
Assessment
• The excessive androgen production during
intrauterine life causes the genital organs in a
male fetus to “overgrow,” or increase in size; it
masculinizes a female fetus.
• Other female organs appear normal, although
a sinus between the urethra and vagina may be
present.
• If the condition is not recognized at birth and
the child remains untreated, the child is
prevented from reaching a usual adult height. •
Pubic and axillary hair, acne, and a deep
masculine voice will appear precociously.
• At puberty, there will be no breast
development or menstruation.
• By 3 or 4 years of age, untreated boys
develop acne and a deep, mature voice; pubic
hair and still greater enlargement of the penis,
scrotum, and prostate occur.
• In contrast, the testes do not enlarge and so
appear small in relation to the size of the penis.
• Spermatogenesis does not occur with
puberty, leaving the child infertile.
• The condition is usually diagnosed not during
pregnancy but in infancy by serum analysis,
which shows the increased level of androgen.
Therapeutic Management
• The ultimate goal of therapy is to replace the
cortisol that is missing, thereby suppressing
ACTH concentrations and normalizing adrenal
size and androgen production. • For therapy,
infants are given a corticosteroid agent, such as
oral hydrocortisone, to replace what they
cannot produce naturally. This way, stimulation
by ACTH decreases, the production of androgen
returns to normal limits, and no further
masculinization occurs.
3. SALT-LOSING FORM OF CONGENITAL
ADRENOGENITAL HYPERPLASIA
• If there is a complete blockage of cortisol
formation, aldosterone production will also be
deficient.
• Without adequate aldosterone, salt is not
retained by the body, so fluid is not retained.
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• Almost immediately after birth, affected
infants begin to have vomiting, diarrhea,
anorexia, loss of weight, and extreme
dehydration.
• If these symptoms remain untreated, the
extreme loss of salt and fluid can lead to
collapse and death as early as 48 to 72 hours
after birth.
Assessment
• The salt-losing form must be detected before
an infant reaches an irreversible point of salt
depletion.
• Weighing infants at each well-child health
checkup.
• Boys with this syndrome appear normal at
birth and the symptoms may be incorrectly
diagnosed as infection or as failure to thrive.
• In girls, because of the ambiguous genitalia,
the correct diagnosis can be made more easily.
Therapeutic Management
• Supplemented with hydrocortisone, an
increased salt intake, and DOCA, a synthetic
aldosterone, in order to maintain a balance of
fluid and electrolytes.
• A long-acting form of DOCA can be given once
a month intramuscularly.
• Capsules of DOCA can also be implanted
subcutaneously (SC) as another form of long-
acting therapy.
• As the child grows older, fludrocortisone
(Florinef), a mineralocorticoid, may be given
orally to aid salt retention.
4. CUSHING SYNDROME
• Caused by overproduction of the adrenal
hormone cortisol.
• Usually results from increased ACTH
production due to either a pituitary or adrenal
cortex tumor.
• The peak age of occurrence is 6 or 7 years,
but the syndrome can occur as early as infancy.
• The inappropriate use of high-potency steroid
creams for diaper dermatitis may be a possible
cause.
• Results in increased glucose production; this
causes fat to accumulate on the cheeks, chin,
and trunk, causing a moon-faced, stocky
appearance.
• Protein wasting also occurs. This leads to
muscle wasting, making the extremities appear
thin in contrast to the trunk, and loss of calcium
in bones.
• Cortisol suppresses the immune system, so
humoral immunity is decreased, leaving
children susceptible to infections.
• It causes vasoconstriction, so extreme
hypertension may occur.
• Purple striae resulting from collagen deficit
appear on the child’s hips, abdomen, and
thighs, similar to those seen in pregnancy.
• Hyperpigmentation which occurs from the
melaninstimulating properties of ACTH
• Abnormal masculinization or feminization,
which occurs from overproduction of androgen
or estrogen.
• Poor wound healing, which results from
reduced protein regulation.
• Polyuria begins to develop as the body tries
to excrete increased glucose levels.
• Growth ceases, and, if the condition is not
reversed , short stature will result.
Assessment
• The serum of children reveals an elevated
plasma cortisol and increased urinary free-
cortisol levels.
• A dexamethasone suppression test may be
administered for diagnosis. For this test, a child
is administered a dose of dexamethasone (a
glucocorticoid); if the child has the syndrome,
the plasma level of adrenal cortisol will fall.
• It will not fall in children with adrenocortical
tumors because the tumor continues to
stimulate the adrenal glands to over secretion.
• If cosyntropin (Cortrosyn), a synthetic
corticotropin, or ACTH is administered, plasma
cortisol levels will normally rise.
• In children with an adrenal tumor, the gland
is already functioning at full capacity, so no
cortisol elevation occurs.
• A CT scan or ultrasound reveals the enlarged
adrenal or pituitary gland, confirming the
diagnosis.
• Treatment of Cushing syndrome is the
surgical removal of the causative tumor.
• The prognosis depends on whether the tumor
is benign or malignant because a carcinoma of
this type tends to metastasize rapidly.
• If a major part of the adrenal glands are
surgically removed, the child will need
replacement cortisol therapy indefinitely.
Therapeutic Management
• If a major portion of the pituitary gland is
removed because the problem was
overproduction of ACTH, the replacement of all
pituitary hormones may be necessary.
• After adrenal surgery, observe the child
carefully for signs of shock: Without
epinephrine also produced by the gland, the
body’s ability to maintain blood pressure is
severely compromised, and severe hypotension
can result.

Metabolic Disorders
The Pancreas
It is a unique organ that has both exocrine and
exocrine types of tissue.
• Islets of Langerhans – form the endocrine
portion
• Alpha islet cells – secrete glucagon
• Beta islet cells – secrete insulin
Insulin
– It is essential for carbohydrate, fats and
protein metabolism.
– It is formed from amino acids at a rate of 35-
50 units per day in adults and less for children
Production:
– When serum glucose exceeds 100 mg/dl, beta
cells immediately begin insulin production, but
when serum glucose levels are low, production
decreases.
– it is also stimulated by gastrin, a
gastrointestinal hormone that rises when the
stomach is full
– Increasing levels of epinephrine and
norepinephrine inhibits the secretion of insulin
The principal childhood disorders associated
with pancreatic dysfunction are type 1 and type
2 diabetes mellitus and pancreatic fibrosis.
1. TYPE 1 DIABETES MELLITUS
It is a disorder that involves an absolute
deficiency of insulin
ETIOLOGY
- The disease results from immunologic damage
to islet cells in susceptible individuals.
- Children with the disorder have a high
frequency of certain human leukocyte antigens
(HLAs), particularly HLA-DR3 and HLA-DR4,
which is located on chromosome 6, that may
lead to susceptibility.
- If one child in a family has diabetes, there is a
higher chance that a sibling will also develop
the illness.
Disease Process
A. HYPERGLYCEMIA
- If glucose is unable to enter the body cells
because of lack of insulin, it builds up in the
blood stream.
B. GLYCOSURIA
- As soon as the kidneys detect hyperglycemia,
the kidneys attempt to lower it to normal levels
excreting excess glucose into the urine.
C. POLYURIA
- Accompanied by a large loss of body fluid.
D. POLYDIPSIA
- Excess fluid in turn, triggers the thirst
response.
Three Cardinal Symptoms of Diabetes
• Polyuria • Polydypsia • Hyperglycemia
• Because body cells are unable to use glucose,
the body begins to break down protein and fat.
• If large amounts of fat are metabolized,
weight loss occurs and ketone bodies (the acid
end product of fat breakdown) begin to
accumulate in the bloodstream and spill unto
the urine as ketones.
• Potassium and phosphate acts as buffers and
pass from the body cells to the bloodstream
If diabetic children are left untreated: 
- experience weight loss
- become acidotic due to the build up of
ketones in their blood
- dehydrated because of loss of water, 
- experienced an electrolyte imbalance because
of loss of potassium and phosphate in urine 
Because large amounts of protein and fat are
being used for energy instead of glucose,
children lack the necessary components of
growth, and therefore remain short in stature
and underweight
Assessment
• Although children may be prediabetic for
some time, the onset of symptoms in childhood
is usually abrupt.
• Parents notice increased thirst and increased
urination (which may be recognized first as
bedwetting, enuresis).
• The dehydration may lead to constipation
Laboratory Studies
Usually show a random plasma glucose level
greater than 200 mg/dl. Normal range : 70 –
100 mg/dl, Fasting ; 90 – 180 mg/dl, not fasting
Two diagnostic tests that are used to confirm
diabetes:
1, Fasting blood glucose test
2. Random blood glucose test
A diagnosis of diabetes is established if one of
the following three criteria is present on two
separate occasions:
- Symptoms of diabetes plus a random blood
glucose level greater than 200 mg/dl
- A fasting blood glucose level greater than 126
mg/dl
- A 2-hour plasma glucose level greater than
200 mg/dl during a 75-g oral glucose tolerance
(GTT)
ACCEPTABLE BLOOD GLUCOSE RANGES FOR
CHILDREN WITH TYPE 1 DIABETES
TIMING VALUE (mg/dl)
Before a meal 70 – 110
1 hr after a meal 90 – 180
2 hr after a meal 80 – 150
Between 2 am and 4 am 70 – 120
Glucose Tolerance Test
- Typically involves oral ingestion of
concentrated glucose solution followed by
blood glucose levels drawn at fasting ( after 1
hr, and after 2 hrs.
- The test is difficult for children because they
will undergo fasting for 8 hours, drink an overly
sweet solution, and submit to painful, intrusive
procedures.
Other Diagnostic Tests
If diabetes is detected, the diagnostic workup
includes:
• Analysis of blood samples for pH, partial
pressure of carbon dioxide (Pco2), sodium, and
potassium levels
• White blood cell count
• And a glycosylated hemoglobin (HbA1c)
evaluation
Therapeutic Management
- Insulin administration
- Regulation of nutrition and exercise
- Stress management
- Blood glucose and urine ketone monitoring
The standard of care in the United States
regarding a child with newly diagnosed
diabetes involves a 3-day hospital admission,
which includes extensive education involving
the caretakers and the child.
Initial Regulation of Insulin
- They are given insulin iv at a dose of 0.1 to 0.2
units per kg of body weight/hour to correct the
metabolic imbalance.
- Once the blood glucose level falls below 200
mg/dl, the initial insulin infusion is gradually
discontinued.
- Within 12 hours, the acidity should be
significantly lower than when the child was
taken to the hospital, and the serum glucose
level should be near normal
Insulin Administration
Doses / Timing
Children – combined 0.4 to 0.7 units per
kilogram of body weight daily in tow divided
dose (one before breakfast and one before
dinner).
Adolescents – may need as much as 1.2 units
per kg daily divided into two doses.
Most common mixture used for children: 
- combination of an intermediateacting insulin
and a regular acting insulin
- 2:1 ratio ( 0.75 units of intermediate-acting
insulin, 0.33 regular insulin)
- given in the same syringe
- Morning dose is two thirds of the total daily
dose; the evening dose is the remaining on
third
Advantage of using two different types of
insulin: the peak effects occur at different times
• Because the peak time of short acting insulins
is 3 – 4 hrs, the child who takes the insulin
before breakfast will notice a maximum effect
between 10 am to 12 nn.
• The peak effect of period of the intermediate-
acting insulin is 6-14 hrs. or late afternoon, just
before dinner
• These are important times to remember
because these are the times when a child is
most apt to experience hypoglycemia.
Injection Technique
- Teach parents that when insulins are mixed in
one syringe, the regular or the short-acting
insulin should be drawn into the syringe first.
- Most frequent injection sites in children
include the upper outer arms and outer aspects
of the thighs.
- Insulin is always injected SC except in
emergencies, when half the required dose may
be given IV.
- The abdomen is a common injection site for
adults, but most children dislike this site
because abdominal skin is tender.
- Encourage children or parents to rotate sites
in a pattern based on their planned activity.
- Work out a plan of rotation with children so
that everyone who will be giving injections
knows what injection site should be used next.
- If the same injection site is used repeatedly, a
great deal of subcutaneous atrophy
(lipodystrophy) can occur, causing deep
pockmarks.
- Insulin should be administered at room
temperature because this diminishes
subcutaneous atrophy and ensures peak
effectiveness.
- With a short needle (less than 0.4 in)
insulin can be injected at a 90-degree angle
into the subcutaneous tissue.
- Automatic injection devices are available,
such as pens and jet injectors, which are
easy for children to use, come with
prepared doses, promote early independence,
and can be given with the 90-degree technique
Insulin Pumps
- It is an automatic device that delivers insulin
at a constant rate, so it regulates serum glucose
levels better than periodic injections.
- To use pump, a syringe of regular insulin is
placed in the pump chamber; a length of thin
polyethylene tubing leads to the child’
abdomen, where it is implanted into the
subcutaneous tissue of the abdomen by a
small-gauge needle.
Inhalation insulin
- It is not available yet but may be in the future;
production of it is in experimental trials.
- Difficulties with development are constructing
an accurate delivery system and determining
how the development of a cold or allergies will
affect drug absorption.
Nutrition
The diet should contain high-fiber and
controlled amount of carbohydrate.
An overall meal pattern should include:
- Three spaced meals that are high in fiber
- Snacks in the midmorning, midafternoon, and
evening
Insulin-to-Carbohydrate Ratio:
- calculated individually for each child
depending on age and activity to guide insulin
administration
Self-Monitoring of Blood Glucose
- Children as young as early school age (6-12)
can learn the techniques of finger puncture and
reading a computerized monitor.
- Using a spring-loaded injection pen helps
minimize pain; an automatic readout monitor
simplifies the procedure
Urine Testing
- It is not routinely but is used to test for
ketonuria if the child develops a
gastrointestinal “flu” and is not able to eat.
- Acetone revealed by a test strip is a sign fat is
being used for energy or that the child is
becoming acidotic.
The “Honeymoon” Period
- Follows after a child’s diagnosis has been
confirmed and the blood glucose level has been
initially regulated by insulin.
- This is when a minimal amount of insulin, or
none at all. Is needed for glucose regulation.
- This occurs because the exogenous insulin
stimulates the islet cells to produce a small
amount of natural insulin, as if to remind them
of their functions
Stress Adjustments
- When children with diabetes undergo as
stressful situation, either emotionally or
physically, they may need increased insulin to
maintain glucose homeostasis.
- Ask children whether they are having any
difficulty with blood testing or insulin injection
and how things are at home and at school to
detect their stress level.
Complications
● If an infection occurs and the child’s
temperature rises, insulin resistance increases,
causing a need for additional insulin.
● If a child with diabetes is scheduled for
surgery, careful regulation on the day of
surgery and in the immediate postoperative
period is essential, especially if oral fluids will
be restricted.
- In the long term, persistent hyperglycemia,
even if not severe, can lead to complications
affecting your eyes, kidneys, nerves and heart
Pancreas Transplantation
- For children who develop severe kidney
disease or arteriosclerosis, pancreas
transplantation may be considered to prevent
further damage.
- To reduce the child’s immune response and
protect against graft rejection, drugs such as
antilymphocyte globulin, cyclosporine,
prednisone, or azathioprine (Imuran) are
administered after surgery
-- If rejection does start to occur, the patient is
given monoclonal T-cell antibodies (OKT3) to
try to reverse this process.
2.Type 2 Diabetes Mellitus
It is a disorder characterized by diminished
insulin secretion.
Risk Factors:
 Overweight
 Strong family history 
 Children from African, Hispanic, Asian, or
Native Indian descent
 High-fat, highcarbohydrate diet
 Physically inactive
 Development of polycystic ovary
syndrome (PCOS)
Signs and symptoms
 Increased thirst
 Frequent urination
 Increased hunger
 Unintended weight loss
 Fatigue
 Blurred vision
 Slow-healing sores
 Frequent infections
 Numbness or tingling in the hands or feet
 Areas of darkened skin, usually in the
armpits and neck (acanthosis nigricans)
Therapy
• nutrition and exercise
• the same as for type 1 diabetes
• combined with an oral antiglycemic agent
such as a biguanide (metformin), which
decreases the amount of glucose produced by
the liver and increases insulin sensitivity in both
the liver and muscle cells.
 nutrition and exercise
 the same as for type 1 diabetes
 combined with an oral antiglycemic agent
such as a biguanide (metformin), which
decreases the amount of glucose
produced by the liver and increases insulin
sensitivity in both the liver and muscle
cells.
Complication
 Atherosclerosis with thickening of arteries
and capillaries
 Kidney disease 
 poor healing ability
 Blindness
The Parathyroid Glands
The four parathyroid glands, located posterior
and adjacent to the thyroid gland, regulate
serum levels of calcium in the body by
controlling the rate of bone metabolism
through the secretion of parathyroid hormone
1. Hypocalcemia
It is a lowered blood calcium level that occurs
to some extent in all newborns before they
begin sucking well.
Assessment
- Chief sign of hypocalcemia: neuromascular
irritabilty or latent tetany.
- The newborn will demonstrate jitteriness
when handled or if the infant has been crying
for an extended period.
Therapeutic management
• Administered orally as 10% calcium chloride if
the infant can and will suck. Otherwise, it will
be given IV as a 10% solution of calcium
gluconate.
• Newborns who are having generalized
seizures may require anticonvulsant therapy in
addition to the calcium gluconate to halt the
seizures. After immediate therapy to increase
the low blood calcium levels, infants are given
oral calcium therapy until their calcium level
stabilizes at greater than 7.5 mg/dl.
• The infant also may be given a vitamin D
supplement such as calcitriol for the
absorption of calcium from the gastrointestinal
tract
Metabolic Disorders (Inborn Errors of
Metabolism)
1. PHENYLKETONURIA
- PKU is a disease of metabolism, which is
inherited as an autosomal recessive trait.
The infant lacks the liver enzyme
phenylalanine hydroxylase, which is
necessary to convert Phenylalanine into
tyrosine
- As a result, excessive phenylalanine levels
build up in the bloodstream and tissues,
causing permanent damage to brain tissue
and leaving children severely cognitively
challenged
Assessment
- screened at birth by blood spot analysis after
receiving 2 full days of breast or formula
feedings.
Therapeutic management
- Dietary regulation, low phenylalanine formula,
Lofenelac
2. MAPLE SYRUP URINE DISEASE
It is a rare disorder, inherited as an autosomal
recessive trait, in which there is a defect in
metabolism of the amino acids leucine,
isoleucine, and valine, which leads to cerebral
degeneration similar to that observed in
children with PKU.
Signs and symptoms
 difficulty in feeding 
 loss of Moro reflex 
 irregular aspirations 
 opisthotonos (generalized muscular
rigidity) 
 Seizures 
 first or second day of life, the urine of the
child develops the characteristic odor of
maple syrup due to the presence of
ketoacids.
Therapeutic Management
- Well-controlled diet high in well-controlled
diet that is high in thiamine and low in the
amino acids leucine, isoleucine, and valine
3. Galactosemia
It is a disorder of carbohydrate metabolism that
is characterized by abnormal amounts of
galactose in the blood (galactosemia) and in
the urine (galactosuria)
Assessment
Signs & symptoms: lethargy, hypotonia,
diarrhea and vomiting
Complications
 Cirrhosis 
 Jaundice 
 Death (3 days) 
 Cognitively challenged and bilateral
cataracts (survived but left untreated)
Diagnosis
• made by measuring the level of the affected
enzyme in the red blood cells
• A screening test (the Beutler test) can be
used to analyze cord blood if a child is known
to be at risk for the disorder.
Therapeutic management
- Galactose -free diet
- Milk susbtistutes such as casein hydrolysates
(Nutramigen)
4. GLYCOGEN STORAGE DISEASE
It refers to a group of genetically transmitted
disorders that involve altered production and
use of glycogen in the body. Twelve of the 13
described types are inherited as autosomal
recessive traits; the other is a sex-linked
disorder.
Diagnosis
• On an ophthalmoscopic examination, a
characteristic cherry-red macula is noticeable
(caused by lipid deposits).
• The disorder may be detected in utero by
amniocentesis. Carriers for the disease trait
may be identified by hexosaminidase
Assessment
• Infants may appear completely unaffected at
birth
• Initial symptoms (3 and 6 months):
- mild muscle weakness
- twitching or jerking of muscles (myoclonic
jerks)
- exaggerated startle response due to an
increased sensitivity to sound (acoustic
hypersensitivity).
• By 1 year of age:
- spasticity and are unable to perform even
simple motor tasks.
• By 2 years of age
- generalized seizures and blindness will have
occurred.
• By 3 to 5 years of age 
- Most children die of cachexia (malnutrition)
and pneumonia.
There is no cure for Tay-Sachs disease.

Assessment
• Protruded stomach due to large supply of
glycogen in the stomach
• Stunted growth
• Epistaxis or hemorrhage
• Hypoglycemia
• gout

Therapeutic Management
• eat a high-carbohydrate diet with snacks
between meals
• a continuous glucose nasogastric or
gastrostomy feeding during the night
• diazoxide (Proglycem), an antihypoglycemic
drug that inhibits insulin release, may help
regulate the glucose level to provide additional
growth.

5. TAY-SACHS DISEASE (INFANTILE GM2

GANGLIOSIDOSIS)
● It is an autosomal recessively inherited
disease in which the infant lacks
hexosaminidase A, an enzyme necessary for
lipid metabolism.
● Without this enzyme, lipid deposits
accumulate on nerve cells, leading to severe
cognitive challenge, due to deposits on brain
cells, and blindness, due to deposits on optic
nerve cells

Etiology
It is found primarily in the Ashkenazi Jewish
population (Eastern European Jewish ancestry)