Endocrine and Metabolic

Disorders
Jennifer Coleman
 Background review
• Endocrine glands
– Hypothalamus (brain)
– Pituitary gland (brain)
– Thyroid gland (neck)
– Parathyroid glands (thyroid)
– Adrenal glands (top of kidney)
– Ovaries and testes (reproductive)
– Islets of Langerhans (pancreas)
 Hormone functions
• Fetal differentiation of reproductive and
CNS
• Growth and development including
puberty
• Maintaining homeostasis
• Maintaining optimal levels of hormones
 Hypopituitarism
(Growth Hormone Deficiency)
• Decreased activity of pituitary gland
• Nl birth wt and length – by 12 months
often at or below the 3rd %
• S/Sx
– Hypoglycemic seizures, neonatal jaundice,
micropenis, undescended testicles
– Older-overweight, youthful facial features,
high pitched voices, delayed dentition,
skeletal & sexual maturation, hypoglycemia
 Diagnosis and Treatment
• Lab
– IGF (insulin like growth factor)
– Radiographic view of pituitary gland
– Meds given to stimulate GH release
• Treatment
– GH replacement
– Follow-up and monitoring growth
– Educate to treat child by age, not by size
 Hyperpituitarism
• Excessive GH secretion, very rare in
children
• Pituitary adenoma, Hypothalamus tumor
• Before growth plates fuse – 7-8 feet tall
• After growth plates fuse – overgrowth of
facial structure
• Treatment-surgery, radiation, PO meds
 Diabetes Insipidus
• Inability to concentrate urine
– Neurogenic (pituitary gland disruption)
– Nephrogenic (insensitive renal tubules to
ADH)
• Deficiency in ADH (Vasopressin)-posterior
pituitary gland
• Associated with: head injuries, infections,
hypopituitarism, familial, tumors, surgery,
CVA
• S/S: (abrupt onset) Polyuria, polydipsia,
nocturia, enuresis, dehydration, constipation,
fever
 Diabetes Insipidius
• Serum sodium concentration increases
(hypernatremia)
• Plasma AVP (arginine vasopressin) level is
decreased
• Specific gravity <1.010
• U/O > intake (fluid volume deficit)
• Treatment – correct the cause
– IV hypertonic soln, restrict PO fluids
– IV hypertonic soln, inc PO fluids,
Desmopressin acetate (DDAVP) IM injections
Negative Feedback – Thyroid
 Congenital Hypothyroidism
• Present @ birth (1:4000)
– >with T-21 and females
– Autosomal recessive
• Absent or nonfunctioning thyroid
(primary hypothyroidism)
• Hypothermia, lg fontanels, umbilical
hernia, hypotonia, hoarse cry,
respiratory distress, prolonged jaundice,
lethargy, constipation, feeding
difficulties
 Congenital Hypothyroidism

• Test--- ideally 3-6 days old. Routinely after

24 hours of age (mandatory in every state)
• T4 (thyroxine) & TSH (thyroid stim horm)
• High TSH and low T4 & T3
• Originates thyroid, not pituitary
 What you should know:
• Management:
– Early diagnosis and treatment-mental
retardation is severe and permanent
without treatment
– PO Levothyroxine (Synthroid)
– (Pediatric) Endocrine specialist
– Life long treatment
– Monitor growth and development (mental
and physical)
 Acquired Hypothyroidism
Etiology
• Acquired
– 1:1000 school age children
– > 2 y.o.
– F>M
• Autoimmune thyroiditis (Hashimoto’s)
– TSH & T4 values are variable
• Iodine deficiency
– Iodine necessary for thyroid hormone synthesis
• Radiation/surgery to thyroid
• Drug/substance exposure-lithium
 Acquired Hypothyroidism
• Increased risk with family history
• Goiter usually present
• Adverse effects after age 2-3 are
reversible with treatment
• Almost 30% Hashimoto’s spontaneously
recover (remission)
 Acquired Hypothyroidism
• S/Sx-
– Everything slows down
– Cold intolerance, slow GI peristalsis,
decreased appetite, dry skin, coarse hair,
hair loss, bradycardia, decreased DTR,
fatigue, obesity, goiter, lethargy, delayed
puberty, abnormal menses, peripheral
edema, decreased school performance,
enlarged tongue
 Management
• Elevated TSH & decreased T4
• Treatment: PO Levothyroxine
• Treat the disease not the symptoms
• TSH check at least yearly
• Drug therapy is lifelong
• Reassure and educate parents
 Hyperthyroidism
• Thyroid hormone level increased
(thyrotoxicosis – inc BMR) high T4 & T3,
low TSH
• Graves’ disease most common
– Preschool to teen-highly familial, F>M
– Autoimmune-immunoglobulins stimulate
thyroid
– Thyroid hormone-producing tumors (thyroid
or pituitary)
– Congenital-prenatally, mother has Graves’
 Signs and Symptoms
• Goiter
• Exophthalmos (bulging eyes)
• Tachycardia, sweating, tremors, warm skin
• Nervousness, irritability, mood swings
• Decreasing school performance-decreased
concentration
• Increased appetite with weight loss
• Heat intolerance, muscle weakness
• Fine hair, hyperreflexia
• Easily fatigued, unable to sleep
Thyroid - Goiter
 Treatment
• Lab-
– TSH, T3, T4
– Thyroid scan
• Drug therapy (side-effects problems)
– Methimazole (MTZ) Thioamides
– Propylthiouracil (PTU)
• Radiation
• Thyroidectomy
• Often not a lifelong disease – tx continued for
6mo-2yrs then individualized to patient
 Nursing Management
• Support and educate parents and child
• Caloric intake
• Scheduled rest periods
• Cool, quiet environment – few clothes
(layers)
• Medication side effects
• Thyroid storm (surge of thyroid hormone is
release) - life threatening
 Disorders of the Adrenal
Gland
• Cushing's Syndrome
– Glucocorticoid (cortisol) hormone excess
• Congenital Adrenal Hyperplasia (CAH)
– Deficiency of cortisol
• Adrenal Insufficiency
– Acute Adrenocortical Insufficiency
– Chronic Adrenocortical Insufficiency
(Addison’s disease)
• Adrenal gland destruction
 Adrenal Gland
• Adrenal cortex • Adrenal medulla
– Glucocorticoids – Catecholamines
• hydrocortisone • epinephrine
• cortisone • norepinephrine
– Mineralocorticoids
• aldosterone
– Sex steroids
• androgens
• estrogens
• progestins
 Adrenal Anterior
Pathway pituitary

ACTH: Adrenocorticotropic
ACTH

Inhibition
hormone

Adrenal
*Negative feedback loop cortex

Cortisol
 Cushing’s Syndrome
• Adrenocortical hyperfunction
– Excess glucocorticoids (especially cortisol) or
ACTH
– Rare in children (mostly F 30-50 yo)
• Etiology
– Primary – Malignant adrenal tumor
– Secondary – Pituitary adenoma (>8yo)
• adrenocorticotropic hormone (ACTH)
• Ectopic (nonpituitary) ACTH-secreting tumor
– Iatrogenic – excessive/prolonged steroid therapy
(most common cause)
 Cushing’s S/Sx
• Alters metabolism: Catabolism of protein,
dec. absorption of Ca, inc. appetite, salt-
retaining
– Poor wound healing, easily bruised, muscle
wasting, demineralization of bone, osteoporosis,
fat accumulation (protruding abdomen, “buffalo
hump”, “moon face”), striae, edema, HTN,
fatigue, hirsutism, acne, impaired glucose
tolerance, mood swings,
oligomenorrhea/amenorrhea
• Cushingoid appearance reversible with
treatment
 Cushing’s treatment
• Surgical removal of tumor
– cortisol replacement is then required
– malignant adrenal tumor prognosis is poor
– pituitary tumor cure rate ~25%
• Irradiation
• Pharmacologic
– block steroid synthesis, mainly used with
ectopic tumors that can not be resected
• Tapered withdraw of pharmacologically
prescribed glucocorticoids
 Congenital Adrenal
Hyperplasia (CAH)
1:5000-15000 live births - Autosomal recessive
(chromosome 6)
Adrenals enlarged – still cannot produce cortisol
(insufficiency) & overproduce androgen
• Form 1: salt-losing
• Form 2: non-salt-losing (simple
virilization)
 CAH
• Form 1: salt-losing
– Blockage of cortisol & aldosterone production-
excessive salt & fluid excretion
– Adrenal crisis (may be life threatening) recurrent
emesis, dehydration, metabolic acidosis, hypotension,
hypoglycemia, circulatory collapse
• Form 2: non-salt-losing (simple virilization)
– Overproduce androgen
– Females: Ambiguous genitalia-enlarged clitoris, fused
labia, urogenital sinus
– Males: Precocious genital development
• Precocious puberty, tall stature early then short
d/t premature epiphyseal closure
 CAH Treatment
• PO hydrocotisone (corticosteroid) to
suppress ACTH
– given early enough will reverse physical
symptoms
– inc. dose required with acute illness, injury,
surgery
• Salt-losing:
– aldosterone
– supplementary dietary salt
 Acute Adrenal Insufficiency
• Adrenocortical insufficiency (Acute)
• Etiology
– Primary
Addison’s disease (chronic)
Infection/trauma to adrenal gland: TB, AIDS,
fulminating infections (meningococcemia, fungal)
– Secondary
Pituitary tumors, surgery, radiation
Exogenous steroids stopped abruptly
Diagnosis
– Based on clinical symptoms
– Confirm: improvement with cortisol therapy
Acute Adrenocortical Insufficiency
Clinical Manifestations & Treatment
• Symptoms acute and sudden
• BP drops, minimal pulse, elev temp,
severe dehydration & hypoglycemia,
seizures, death
• Cortisol replacement
• IV fluids and glucose
• Antibiotic tx for specific infection
• Blood transfusion (hemorrhagic)
 Diabetes mellitus (Type I)
• Most common endocrine disorder in
childhood
• 1:1500 under 5 yrs
• 1:600 school-aged children
• 1:350 by 16 yrs
• 80 – 95% of children first diagnosed with
diabetes have Type I
 DMI-Etiology
• Autoimmune disease in which islet cell
antibodies lead to the destruction of the
pancreatic beta cells (in islets of
Langerhans) and eventually to a relative
lack of insulin (>90% beta cells are
destroyed)
• Disorder of carbohydrate metabolism
resulting from the decrease in insulin
production
 DMI-Etiology
• Influenced by 3 major factors
– Genetic susceptibility to develop - chromosome 6
– Environment - viruses or chemicals in diet may
damage beta cells
– Immunologic processes - Increase of circulating
antibodies in pancreatic islet cells (inflammatory
process) As the beta cells are destroyed,
antibodies will decrease
 DM-I Onset
• Relatively acute with rapid progression
and deterioration of the child
• “Poly-triad”
– Polyuria
– Polydipsia
– Polyphagia
 Hyperglycemia
• Poor control/unknown disease
• Symptoms:
– lethargic, sleepy, slowed responses,
confusion
– tachypnea, hungry, dehydrated
– weak pulse, flushed, dry skin, thirsty, HA
– abdominal pain, N/V, blurred vision, shock
 Hyperglycemia management
• Good insulin control
– Frequent monitoring
– Correct dosing
– Refrigerated, non-expired insulin
– Appropriate diet
– Regular exercise
Ketoacidosis (Metabolic acidosis)
• Etiology
– Glucose unavailable for metabolism-fats used for
energy
– Glycerol from fat cells converted by liver to ketone
bodies
• Symptoms
– Tachypnea/Kussmaul (deep & rapid) respirations
(d/t inc. CO2)
– Dehydration, flushed ears and cheeks
– Sweet “fruity-like” (acetone) breath
– Decreased bowel sounds, abdominal tenderness
– Weight loss, nausea and vomiting, dec. LOC
 DKA continued
• Serum glucose – >300 mg/dL
• Serum ketones present
• Acidosis (pH</=7.30 + bicarb <
15mEq/L)
• Glycosuria, ketonuria
• Electrolyte disorder
• Coma: serum osmolality > 350mOsm/kg
– potential for cerebral edema-life
threatening
 Hypoglycemia
• Causes
– Insulin excess
– Decrease in food intake
– Increased activity
– Alcohol consumption
• Rapid onset of symptoms
 Symptoms
• Mild – give 10-15 grams carbohydrate
– Pallor, tachycardia, diaphoresis, shakiness,
hunger, fatigue, behavior changes start
• Moderate – give 15-30 grams carbohydrate
– Headache, confusion, poor concentration,
irritability, blurred/double vision, slurred
speech, shallow breathing, photophobia
• Severe – give glucagon SQ
– Numb lips/mouth, disorientation,
combative, loss of consciousness, seizures
 Clinical Manifestations
• Hyperglycemia-chronic complications
– Hypertension
– Deceleration in linear growth and maturation
– Dry, rough skin with poor turgor
– Poor wound healing-impaired immune function
– Decreased acuity and blurred vision Retinal
vascular changes (diabetic retinopathy)
– Heart disease, renal failure, peripheral vascular
disease, neuropathy
– Accelerated atherosclerosis, hepatomegaly
– 30% will develop hypothyroidism
 DMI-Management Goals
• Optimal glycemic control
– Medication
– Diet
– Exercise
• Normal growth and development
• Prevention of future complications
• Empowerment of client and family
 Medication
• Insulin only one to treat Type I
• Stress, illness, infection, growth spurts
and puberty will increase insulin
requirements
• Many types of insulin available (short,
intermediate and long-acting)
• Generally dosed BID-before breakfast
and before evening meal
 Insulin Dosing
• 0.5-1.0 U/kg/day
– 2/3 total dose in morning and 1/3 total dose in
evening
• Short-acting (regular) Intermediate-acting
(NPH) are most common
• Insulin pump - attached via catheter (an
implantable device now in trials)
• Inhalation insulin being researched
• More frequent dosing as indicated
• Rotate SQ injection sites
 Nutrition
• Ideally designed and monitored by a RD
• Goals:
– Low-saturated fat and low-sodium
– 3 meals with 2 snacks
– Prevention of hyper and hypoglycemia
– Attainment of normal growth & development
– Adequate caloric intake-avoid concentrated
sugars
– Lipid levels appropriate for age
– Prevention of obesity
 Exercise
• Benefits
– Improved cardiovascular health
– Improved glucose tolerance
– Increased insulin sensitivity
– Reduced hyperinsulinemia
– Reduces overall blood sugar
– Reduced body fat and weight
 Exercise precautions
• Plan, ideally 60-90 minutes after a meal
• Consume additional snacks
• Consume snacks before and during
strenuous exercise/sports
• Monitor glucose levels closely
• Avoid strenuous exercise in evening or just
before going to bed
• Avoid with glucose levels > 240 mg/dl or
ketouria present
 Monitoring of blood glucose
patterns
• Minimum 3-4 times/day
• 0200-0300 glucose check minimum of
one time a week
• More frequent monitoring during times of
illness, increased activity
• Urine glucose testing of little value
• Test urine for ketones with blood
glucose levels > 240 mg/dl; during
illness
 Sick day rules
• Q 4-6 hour glucose monitoring and
urine ketone checks around the clock
• Insulin must be taken even if anorexia,
N/V
• Regular insulin supplemented if
hyperglycemia and ketonuria are
present
• Increased fluids, especially if ketosis,
hyperglycemia, or fever present
Contact practitioner for following:
• Treatment of precipitating infection/illness
• Assistance with insulin dosage requirements
• Glucose levels remaining > 240 mg/dl or < 80
mg/dl despite following guidelines for illness
• Presence of ketones
• N/V with inability to tolerate fluids
• Diarrhea present > 5X per day
• Change in mental status
• Labored respirations or dyspnea
 Diagnostic criteria
• Many go undiagnosed (~33%) for up to 6
years
• Classic symptoms + >200mg/dL
• No classic symptoms
– 2 fasting plasma glucose levels of >125
mg/dL
– 2 oral glucose tolerance tests with 2-hour
plasma glucose levels plus one intervening
value >200mg/dL
 Laboratory tests
• Plasma glucose
– Normal adult – 80-120 mg/dL
– 1 week to 16 years: 60-105 mg/dl
– >16 years: 70-115 mg/dl
• Hemoglobin A1c (HbA1c)
– Should be performed every 3 months
– 3.9 - 7.7% is normal
– Significantly decrease/delay chronic, long-
term complications with tight control
 Laboratory
• Fasting lipid profile
– > 2 years old after control of blood sugar obtained
– If values normal, should be assessed every 5 yr.
• Urinalysis
– Glucose (renal threshold for glucose 160 mg/dL),
ketones and protein negative
• Serum creatinine
– In children with proteinuria need 24 hr. urine
collection
• Thyroid function tests
 Diabetes Mellitus Type II
• Non-insulin dependent diabetes mellitus
(NIDDM) = insulin resistance + relative insulin
deficiency + excess glucose production by the liver
• “Adult onset diabetes” - >40 y.o. and over weight
– now known to affect record numbers of adolescents
and children – average age of onset in chn/adol is 13
• Risk factors – Obesity, genetic, African-Americans,
Hispanics, Native Americans, Japanese, puberty,
polycystic ovary syndrome, F>M
 DMII
• Most diagnosed after puberty – common to be an
“accidental” diagnosis
• Common to have HTN, dyslipidemia, vaginal
infection, obesity, family history
• Management
– Diet
– Exercise
– Education, support & counseling
– Oral hypoglycemic drug (Glucophage – only one
approved for children)
– Only ~ 20-30% will require any insulin therapy
 Hypocalcemia
• Parathyroid Hormone (PTH)
• S/Sx – dry, scaly skin, brittle hair, thin nails,
tetany, laryngeal stridor, muscle cramps,
twitching, HA, seizures, mood swings, confusion,
diarrhea, vomiting
• Treatment – maintaining normal serum
calcium, long-term Vit D therapy, PO calcium
 Phenylketonuria (PKU)
• Autosomal recessive (1:10,000)
• Absence of liver enzyme to convert
phenylalanine (excess phenylalanine –
permanent brain damage – MR, seizures)
• Musty/mousy odor to urine and sweat
• Early identification essential – screen at 2 days
– Guthrie screening test (heel stick)
• Dietary control – formula Lofenalac
– HIGH – meat, eggs, milk
– LOW – OJ, bananas, potatoes, lettuce, spinach, peas
 Maple Syrup Urine Disease
• Rare, autosomal recessive
• Defect in amino acid metabolism (leucine,
iso-leucine, valine) – brain damage
• Untreated will die within 2-4 weeks
• Maple syrup/ketoacid odor to urine
• Dietary management – even more difficult
than PKU
 Galactosemia
• Autosomal recessive (1:40,000)
• Defect in carbohydrate metabolism –
high galactose in blood and urine – low
glucose – severe brain damage
• Lethargy, hypotonia, diarrhea, vomiting,
liver enlarges (cirrhosis), jaundice
• Untreated – dies in 3 days
• Dietary control – free of galactose
(lactose free diet)
 Glycogen Storage Disease
• Autosomal recessive – group of 13 disorders
• Prevention of glycogen into glucose from liver
storage
• Liver enlarges, hypoglycemia, stunted growth,
possible brain damage, decreased platelet
adhesiveness
• Dietary control – high-carbs, with snacks,
NG/GT night feeding, antihypoglycemic drug,
liver transplant extends life/does not cure
 Tay-Sachs Disease
• Autosomal recessive – Ashkenazi Jewish
(Eastern Europe)
• Lacks enzyme to metabolize lipids
• Lipids accumulate on nerves – MR,
blindness
• Loss of skills at 6 months, seizures,
blindness by 2 yo, death by 3-5 yo
• No cure – no good treatment
 Precocious Puberty
• Early onset of Puberty (premature
activation of pituitary/hypothalamus)
– Ages for girls: 8-13
– Ages for boys: 9 1/2-14
• Development of secondary sex
characteristics and increased rate of
growth and bone maturation (initially tall
for age, then short d/t early closure of
epiphysial plates)
 Precocious Puberty
• Test: gonadotropin, LH, FSH, bone
study, CT, MRI (often no causative
factor is found)
• Treatment:
– none-self resolving (monitor)
– Lupron Depot (synthetic luteinizing
hormone releasing factor)
• Education: parents and child, include
discussions about sexuality (child is
fertile), same-age peers