Diseases in Endocrine System

1. Endocrine and Metabolic
Disorders

2. 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)

3. Hormone functions
 Fetal differentiation of reproductive and CNS
 Growth and development including puberty
 Maintaining homeostasis
 Maintaining optimal levels of hormones

4. 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

5. 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

6. 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

7. 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

8. 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

9. 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

10. 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

11. 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)

12. 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

13. 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)

14. 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

15. 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

16. 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’

17. 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

18. Thyroid - Goiter

22. 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

23. 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

24. 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

25. Adrenal Gland
 Adrenal cortex
 Glucocorticoids
 hydrocortisone
 cortisone
 Mineralocorticoids
 aldosterone
 Sex steroids
 androgens
 estrogens
 progestins
• Adrenal medulla
– Catecholamines
• epinephrine
• norepinephrine

26. Adrenal
Pathway
Anterior
pituitary
ACTH
Adrenal cortex
Cortisol
ACTH: Adrenocorticotropic
hormone
*Negative feedback loop
Inhibition

27. 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)

28. 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

29. 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

30. 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)

31. 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

32. 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

33. 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

34. 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)

35. 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

36. 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

37. 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

38. DM-I Onset
 Relatively acute with rapid progression and
deterioration of the child
 “Poly-triad”
 Polyuria
 Polydipsia
 Polyphagia

39. 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

40. Hyperglycemia management
 Good insulin control
 Frequent monitoring
 Correct dosing
 Refrigerated, non-expired insulin
 Appropriate diet
 Regular exercise

41. 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

42. 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

43. Hypoglycemia
 Causes
 Insulin excess
 Decrease in food intake
 Increased activity
 Alcohol consumption
 Rapid onset of symptoms

44. 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

45. 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

46. DMI-Management Goals
 Optimal glycemic control
 Medication
 Diet
 Exercise
 Normal growth and development
 Prevention of future complications
 Empowerment of client and family

47. 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

48. 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

49. 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

50. Exercise
 Benefits
 Improved cardiovascular health
 Improved glucose tolerance
 Increased insulin sensitivity
 Reduced hyperinsulinemia
 Reduces overall blood sugar
 Reduced body fat and weight

51. 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

52. 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

53. 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

54. 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

55. 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

56. 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

57. 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)

58. 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

59. 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

60. 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)

61. 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