Endocrine and Metabolic Disorders

Endocrine and Metabolic Disorders
Presentation Lecture by Jennifer Coleman, Assistant Professor of Nursing
Arkansas Tech University


Background review
* Endocrine glands
o Hypothalamus (brain)
o Pituitary gland (brain)
o Thyroid gland (neck)
o Parathyroid glands (thyroid)
o Adrenal glands (top of kidney)
o Ovaries and testes (reproductive)
o 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
o Hypoglycemic seizures, neonatal jaundice, micropenis, undescended testicles
o Older-overweight, youthful facial features, high pitched voices, delayed dentition, skeletal & sexual maturation, hypoglycemia

Diagnosis and Treatment
* Lab
o IGF (insulin like growth factor)
o Radiographic view of pituitary gland
o Meds given to stimulate GH release
* Treatment
o GH replacement
o Follow-up and monitoring growth
o 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
o Neurogenic (pituitary gland disruption)
o 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
* 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
o IV hypertonic soln, restrict PO fluids
o IV hypertonic soln, inc PO fluids, Desmopressin acetate (DDAVP) IM injections

Negative Feedback – Thyroid
Congenital Hypothyroidism
What you should know:
* Management:
o Early diagnosis and treatment-mental retardation is severe and permanent without treatment
o PO Levothyroxine (Synthroid)
o (Pediatric) Endocrine specialist
o Life long treatment
o Monitor growth and development (mental and physical)


Acquired Hypothyroidism Etiology
* Acquired
* Autoimmune thyroiditis (Hashimoto’s)
* Iodine deficiency
* 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)
* S/Sx-

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
o Preschool to teen-highly familial, F>M
o Autoimmune-immunoglobulins stimulate thyroid
o Thyroid hormone-producing tumors (thyroid or pituitary)
o 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-
o TSH, T3, T4
o Thyroid scan
* Drug therapy (side-effects problems)
* 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
o Glucocorticoid (cortisol) hormone excess
* Congenital Adrenal Hyperplasia (CAH)
o Deficiency of cortisol
* Adrenal Insufficiency
o Acute Adrenocortical Insufficiency
o Chronic Adrenocortical Insufficiency (Addison’s disease)
+ Adrenal gland destruction
Adrenal Gland
* Adrenal cortex
o Glucocorticoids
+ hydrocortisone
+ cortisone
o Mineralocorticoids
+ aldosterone
o Sex steroids
+ androgens
+ estrogens
+ progestins
* Adrenal medulla
o Catecholamines
+ epinephrine
+ norepinephrine

Adrenal Pathway
Anterior
pituitary
ACTH
Adrenal cortex
Cortisol
ACTH: Adrenocorticotropic hormone
*Negative feedback loop
Inhibition
Cushing’s Syndrome
* Adrenocortical hyperfunction
o Excess glucocorticoids (especially cortisol) or ACTH
o Rare in children (mostly F 30-50 yo)
* Etiology
o Primary – Malignant adrenal tumor
o Secondary – Pituitary adenoma (>8yo)
+ adrenocorticotropic hormone (ACTH)
+ Ectopic (nonpituitary) ACTH-secreting tumor
o 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
o 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
o cortisol replacement is then required
o malignant adrenal tumor prognosis is poor
o pituitary tumor cure rate ~25%
* Irradiation
* Pharmacologic
o block steroid synthesis, mainly used with ectopic tumors that can not be resected
* Tapered withdraw of pharmacologically prescribed glucocorticoids
Congenital Adrenal Hyperplasia (CAH)
* Form 1: salt-losing
* Form 2: non-salt-losing (simple virilization)
CAH

* Form 1: salt-losing
o Blockage of cortisol & aldosterone production-excessive salt & fluid excretion
o Adrenal crisis (may be life threatening) recurrent emesis, dehydration, metabolic acidosis, hypotension, hypoglycemia, circulatory collapse
* Form 2: non-salt-losing (simple virilization)
o Overproduce androgen
o Females: Ambiguous genitalia-enlarged clitoris, fused labia, urogenital sinus
o Males: Precocious genital development
* Precocious puberty, tall stature early then short d/t premature epiphyseal closure
CAH Treatment

* PO hydrocotisone (corticosteroid) to suppress ACTH
o given early enough will reverse physical symptoms
o inc. dose required with acute illness, injury, surgery
* Salt-losing:
o aldosterone
o supplementary dietary salt


Acute Adrenal Insufficiency

* Adrenocortical insufficiency (Acute)
* Etiology
o Primary
Addison’s disease (chronic)
Infection/trauma to adrenal gland: TB, AIDS, fulminating infections (meningococcemia, fungal)
o Secondary
Pituitary tumors, surgery, radiation
Exogenous steroids stopped abruptly

Diagnosis
o Based on clinical symptoms
o 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
o Genetic susceptibility to develop - chromosome 6
o Environment - viruses or chemicals in diet may damage beta cells
o 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”
o Polyuria
o Polydipsia
o Polyphagia
Hyperglycemia

* Poor control/unknown disease
* Symptoms:
o lethargic, sleepy, slowed responses, confusion
o tachypnea, hungry, dehydrated
o weak pulse, flushed, dry skin, thirsty, HA
o abdominal pain, N/V, blurred vision, shock

Hyperglycemia management

* Good insulin control
o Frequent monitoring
o Correct dosing
o Refrigerated, non-expired insulin
o Appropriate diet
o Regular exercise

Ketoacidosis (Metabolic acidosis)

* Etiology
o Glucose unavailable for metabolism-fats used for energy
o Glycerol from fat cells converted by liver to ketone bodies
* Symptoms
o Tachypnea/Kussmaul (deep & rapid) respirations (d/t inc. CO2)
o Dehydration, flushed ears and cheeks
o Sweet “fruity-like” (acetone) breath
o Decreased bowel sounds, abdominal tenderness
o Weight loss, nausea and vomiting, dec. LOC
DKA continued

* Serum glucose – >300 mg/dL
* Serum ketones present
* Acidosis (pH * Glycosuria, ketonuria
* Electrolyte disorder
* Coma: serum osmolality > 350mOsm/kg
o potential for cerebral edema-life threatening

Hypoglycemia

* Causes
o Insulin excess
o Decrease in food intake
o Increased activity
o Alcohol consumption
* Rapid onset of symptoms
Symptoms

* Mild – give 10-15 grams carbohydrate
o Pallor, tachycardia, diaphoresis, shakiness, hunger, fatigue, behavior changes start
* Moderate – give 15-30 grams carbohydrate
o Headache, confusion, poor concentration, irritability, blurred/double vision, slurred speech, shallow breathing, photophobia
* Severe – give glucagon SQ
o Numb lips/mouth, disorientation, combative, loss of consciousness, seizures

Clinical Manifestations

* Hyperglycemia-chronic complications
o Hypertension
o Deceleration in linear growth and maturation
o Dry, rough skin with poor turgor
o Poor wound healing-impaired immune function
o Decreased acuity and blurred vision Retinal vascular changes (diabetic retinopathy)
o Heart disease, renal failure, peripheral vascular disease, neuropathy
o Accelerated atherosclerosis, hepatomegaly
o 30% will develop hypothyroidism
DMI-Management Goals

* Optimal glycemic control
o Medication
o Diet
o 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
o 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:
o Low-saturated fat and low-sodium
o 3 meals with 2 snacks
o Prevention of hyper and hypoglycemia
o Attainment of normal growth & development
o Adequate caloric intake-avoid concentrated sugars
o Lipid levels appropriate for age
o Prevention of obesity
Exercise

* Benefits
o Improved cardiovascular health
o Improved glucose tolerance
o Increased insulin sensitivity
o Reduced hyperinsulinemia
o Reduces overall blood sugar
o 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
o 2 fasting plasma glucose levels of >125 mg/dL
o 2 oral glucose tolerance tests with 2-hour plasma glucose levels plus one intervening value >200mg/dL

Laboratory tests

* Plasma glucose
o Normal adult – 80-120 mg/dL
o 1 week to 16 years: 60-105 mg/dl
o >16 years: 70-115 mg/dl
* Hemoglobin A1c (HbA1c)
o Should be performed every 3 months
o 3.9 - 7.7% is normal
o Significantly decrease/delay chronic, long-term complications with tight control

Laboratory

* Fasting lipid profile
o > 2 years old after control of blood sugar obtained
o If values normal, should be assessed every 5 yr.
* Urinalysis
o Glucose (renal threshold for glucose 160 mg/dL), ketones and protein negative
* Serum creatinine
o 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
o Diet
o Exercise
o Education, support & counseling
o Oral hypoglycemic drug (Glucophage – only one approved for children)
o 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
o HIGH – meat, eggs, milk
o 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)
o Ages for girls: 8-13
o 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:
o none-self resolving (monitor)
o Lupron Depot (synthetic luteinizing hormone releasing factor)
* Education: parents and child, include discussions about sexuality (child is fertile), same-age peers

Endocrine and Metabolic Disorders.ppt