Endocrinology Round 1:
The Endocrine System:

Endocrine system is composed of glands, which secrete chemicals called hormones.
The hormones affect multiple target tissues and organs in the body.
Hormones regulate growth, fluid and electrolytes, energy, sexual maturation, reproduction and stress response.

Disorders are caused by insufficient hormones (Hypofunction), most common
Or excessive hormones (Hyperfunction)
Endocrine system... seesaw which can go up and down creating a problem with homeostasis in susceptible children.

Primary (the affected gland doesn’t work),
Secondary (the pituitary inadequately stimulates the target gland)
Tertiary (the hypothalamus is the cause of the problem).

The endocrine system is the most immature body system at birth.
The endocrine system is closely linked to the central nervous system (CNS).

Glands in endocrine system are the hypothalmus, adrenal, pituitary, pineal, pancreatic islets, parathyroid, thyroid, thymus, ovaries and testes. Most have clear roles except the pineal and the thymus gland.

Curiously, the pineal gland is about the size of a raisin and usually calcified by age 12. It is thought that it may have some something to do with melatonin production while the thymus is generally thought to be part of the immune system.

*The production and secretion of hormones is controlled by a negative feedback system.*

A great review of the endocrine system!






Newborn Screening:

IMG_0740.JPG IMG_0739.JPG




This is a fact sheet about newborn screening located at the SCDHEC. The link is below.

http://www.scdhec.gov/health/mch/nbs/index.htm


Newborn Screening F.A.Q. Sheet

How long has DHEC done this testing?

Testing for phenylketonuria (PKU) began in 1965. A 1976 law made testing mandatory unless parents had religious objections. The other tests were recommended by the Newborn Screening Advisory Committee and approved by the DHEC board.

What diseases are on the test panel?

The SC newborn screening panel includes all 28 core metabolic conditions that are recommended by the March of Dimes and the American College of Medical Genetics. In addition it also includes screening for 24 secondary metabolic conditions that can cause severe problems if not found very early in life. The most common conditions are described below.

Phenylketonuria is an error in amino acid metabolism resulting in profound mental retardation. The consequences can be avoided by very early detection and a diet low in the amino acid phenylalanine. About three babies with PKU are detected each year. Testing can also identify babies with other amino acid metabolism disorders as well as babies with certain organic acid metabolism disorders.


Congenital Hypothyroidism results from the lack of thyroid hormone leading to mental retardation and slow growth. If detected early, thyroid hormone can be given and the consequences reduced or eliminated. About 20 babies are found each year with primary congenital hypothyroidism.


Persons with Hemoglobinopathies (like Sickle Cell Disease) may have impaired oxygen transfer ability and many painful and life-threatening conditions, some of which can be prevented through early diagnosis and monitoring. About 100 babies a year are identified with hemoglobinopathy disorders including sickle cell disease while another 2,400 are identified as carriers.


Galactosemia is caused by an inability to metabolize galactose, a component of lactose found in milk and other foods. Serious gastrointestinal disturbances, failure to gain weight and jaundice may occur. Children with untreated galactosemia develop mental retardation, cataracts and speech delay. Some babies die in the early neonatal period from bacterial sepsis. If detected early, diets low in galactose can minimize the effects of the condition. About one baby a year is born with this condition. Other, less severe forms of galactosemia can also be found through this testing. In SC, around 15 babies are found with less severe forms of galactosemia each year.


Congenital adrenal hyperplasia is an enzyme defect that affects the functioning of the adrenal gland with the overproduction of testosterone. Children with CAH may begin puberty at 3-5 years of age. In some cases, the child may experience dehydration, shock and death. Administration of adrenal hormones can prevent some serious consequences. About three babies a year are identified with this condition.


Medium chain acyl-CoA dehydrogenase deficiency causes an error in fatty acid metabolism resulting in a child's blood sugar becoming dangerously low. About 20 percent of children with MCADD die before diagnosis if screening is not in place and those who survive may have serious residual effects. If detected early, the condition can be treated by making sure the child gets enough carbohydrate, especially during illness or other stressful times. About four babies a year are found with this condition. Testing can also identify babies with other fatty acid metabolism disorders.

Biotinidase deficiency causes a baby to have difficulty using biotin, a vitamin that is found in foods, including breast milk and infant formula. Without biotin, the baby will not grow and develop properly. He or she may have seizures, hearing loss and skin problems. About one baby a year is found with this disorder.

Cystic fibrosis is a genetic disorder that is detected in 10 to 15 babies born in SC each year. When a baby has CF, some fluids in the body that should be thin and slippery are thick and sticky. These fluids can plug up some of the “tubes” or “channels” in the body. This affects the lungs and digestive system the most. Babies with CF often cough or wheeze and can get lung infections that need treatment with strong drugs. They also may not digest their food well, often in spite of a huge appetite. Poor digestion can cause diarrhea and poor growth. Babies found through screening often have not yet started to show much of these problems or to “act sick”.

Do parents sign a consent form?

There is no DHEC consent form for newborn screening. The DHEC Newborn Screening Manual; Law, Regulations, and Official Departmental Instructions states, "The provision of the screening test is covered under the informed consent signed by the parents at the hospital." Parents may refuse the tests only on religious objections.

Do parents get any information in advance?

The regulation requires hospital staff to provide information about the testing. The hospital may give the parents a pamphlet with information about the testing.

How long does it take to do the testing?

On average, testing is completed three working days after the specimen arrives in DHEC’s laboratory. If the results indicate a high likelihood that the infant has a newborn screening disorder, the physician of record is notified by phone by staff in the Division of Women and Children’s Services. If the results are less definite but still abnormal, the physician will be notified by mail. The laboratory needs to keep the specimens, which are blood spots, long enough to complete testing and allow for requests for routine additional tests or repeats.

What happens to the information?

Results are sent to the hospital or mid-wife and to the physician of record. Abnormal results are also immediately sent to DHEC’s Division of Women and Children’s Services for follow-up. The results from children with sickle-cell trait (carriers of sickle cell) are sent by the Laboratory to regional sickle-cell centers for counseling and follow-up.

What happens to the blood specimens after laboratory testing is completed?

The laboratory will destroy the residual blood specimens once they are no longer needed for testing. They are not used in research or for any purpose other than newborn screening.

Does DHEC do any DNA-based newborn screening or store purified DNA?

No. DHEC does no DNA-based (gene) newborn screening. The DNA is stored only because DNA is present in the blood cells. No purified DNA is stored.
Pituitary disorders:
The pituitary is often called the ‘master’ gland.
It has an anterior and posterior lobe.

The anterior pituitary produces growth hormone (GH), luteinizing hormone (LH), follicle stimulating hormone (FSH), adrenocorticotropic hormone (ACTH), thyroid stimulating hormone (TSH), and prolactin hormone (PL).

The posterior pituitary produces oxytocin and stores arginine vasopressin or antidiuretic hormone (ADH), which is produced in the hypothalamus. The anterior lobe of the pituitary regulates growth, sexual development/reproduction and metabolic activity.

Disorders of the anterior pituitary:
Growth hormone deficiency
Precocious puberty

Growth Hormone Deficiency:
Deficiency results in poor growth, short stature.
Boys are evaluated more than girls.
Why?
It may result from tumor, infection, and radiation but in 75% no cause is found.

Pathology:
The hypothalamus releases growth hormone-releasing hormone which stimulates the production of growth hormone.
In growth hormone deficiency the pituitary is unable to respond.

Clinical manifestations:
Increased fat in trunk area
Child-like face, prominent forehead
High-pitched voice
Hypoglycemia
Micropenis, small testes in males
Delayed sexual maturity
Delayed dentition

Diagnosis:
Growth chart *meticulous measurements
Radiographic bone studies
MRI
Baseline blood testing
2-3 provocative tests in which growth hormone stimulate is given

Treatment:
Subcutaneous growth hormone injection 6-7 days a week until adult height
Side effects- slipped femoral epiphysis, pseudotumor, edema, sodium retention

Nursing Diagnosis:
Delayed growth and development
Disturbed body image
Knowledge deficit

Outcomes/planning/teaching:
žFamily teaching regarding medication administration and cost
žPromote positive body image
žLifestyle changes
žPrepare to choose sports/ activities that do not have height requirements
žChildren should dress in clothing that fits their age and not size
žCounseling resources

*The nurse fills the role of teacher, coordinator, advocate*

Growth Hormone Deficiency:



Rachel is adorable. She is six years old.
What are some of the things you note or are noted by her parents to be characteristics of growth hormone deficiency?
What do her parents state was the hardest part of this process for themselves? For Rachel?
What were some of the definitive tests used to make this diagnosis?
What is the treatment?

Precocious puberty:
Caucasian females breast development before age 7-8, before 6-7 in AA females
Testicular enlargement in boys before age 9
*4-10xs more common in girls and AA
Cause in girls idiopathic
Cause boys more likely CNS lesion

Manifestations:
žAccelerated growth rate
žAdvanced bone age
žEvidence of secondary sexual characteristics
žAcne
žBody odor
žBehavioral changes
žPsychosocial development normal
žMood swings

Diagnosis:
žComplete history, Tanner staging
žExposures to exogenous hormones
žCNS trauma or infection
žFamily history of pubertal development
žHormone levels LH, FSH, estradiol or testosterone
CT or MRI to rule out CNS lesion

Treatment:
GnRH analogs, initially will stimulate gonadotrophin release then will suppress ('flare'). Can be given as an injection every 3-4 weeks, a subcutaneous injection daily, a intranasal 2-3 times a day or a histrelin implant. Secondary sexual development will stabilize or regress. When therapy is discontinued puberty will resume. Very expensive.

Precocious puberty:





Disorders of the posterior pituitary:
žDisorders are related to a deficiency or excess of vasopressin or antidiuretic hormone (ADH)

Diabetes insipidus:
A deficiency of antidiuretic hormone (ADH)
Mnemonic - I want a sip of water!

žDisorder of water regulation
žADH is suppose to concentrate the urine by stimulating reabsorption of water in the renal collecting tubules
žWhen this does not happen there are large amounts of diluted urine
žOften seen in children with head trauma, cranial surgery or surgery in the pituitary region, infection, or genetics
žMay be transient or permanent

Manifestations:
žInfants – FTT (weight loss, dehydration, fevers, poor growth, vomiting, constipation)
žOlder child – polyuria, polydipsia, enuresis
žCan have output from a few to 18 liters of urine a day, that's nine 2 liter coke bottles a day!

Treatment:
žHistory
žFirst morning urine to check for osmolarity, specific gravity and sodium, will be dilute
ž*Caution* Child may can become hypernatremic and at risk for a seizure when with holding fluids*
Extended urine screens – requires close monitoring of I&O, weight, vitals, hydration
žDesmopressin (DDAVP) – long acting vasopressin analog (intranasally/orally)
žNurses will teach regarding fluid intake and urine output, daily weights, keeping a journal


žDiabetes Insipidus:


Syndrome of Inappropriate Antidiuretic Hormone (SIADH):

While Diabetes Insipidus involves too little antidiuretic hormone (ADH), SIADH results from too much ADH.
This can be caused by infections, tumors, trauma, pulmonary disorders or chemotherapy
Mnemonic - See I Am Drowning Here ...too much water!


Excessive ADH leads to too much water retention; this leads to water intoxication
Water intoxication = hyponatremia, edema, elevated blood pressure, distended jugular veins, lung crackles,
weight gain, fluid and electrolyte imbalance, decreased urine output

Treatment includes:
Fluid management
Medications
Treatment of the causative factors

Nursing Care:
Maintain electrolyte imbalances
Monitor vital signs,
Monitor Intake and output, note urine osmolarity, specific gravity
Monitor serum sodium
Monitor level of consciousness (LOC), headaches, seizure activity
Daily weights
Parental education

Thyroid/Parathyroid - Hypo and Hyper

Congenital hypothyroidism (CH)
Low concentrations of circulating thyroid hormones T3, T4
Early detection prevents cretinism
TSH surges in first 24-48 hours so best to test after.
Newborn screening tests

Incidence/etiology:
Females 2:1
Higher in Hispanics and infants with Down's syndrome, lower in AA
Most causes are due to absent, partial, or ectopic thyroid
Error in thyroid hormone synthesis (dyshormonogenesis)

Clinical Manifestations:
Asymptomatic at birth
Large posterior fontanel
Umbilical hernia
Constipation
Prolonged jaundice

Also:
Pallor
Hypothermia
Enlarged tongue
Hypotonia, hypoactivity
Feeding difficulties
Delayed mental responsiveness
Cool, dry, scaly skin
Swollen eyelids

Diagnosis:
Mandatory Newborn testing (See endocrinology rounds first page)
If initial positive will have a second test
Persistent elevated TSH (thyroid stimulating hormone) indicates CH
Some will take x-ray of knee to assess previous in utero growth retardation

Treatment:
Thyroid replacement - L-thyroxine (synthroid) 10-15 mcg/kg/day
Checked frequently (2 weeks) until dosage therapeutic
Goal to keep T4 in upper half and TSH in normal range
Lifelong replacement necessary

Nursing Management/Teaching:
Growth closely monitored
Blood tests every 2-4 weeks then every 3-4 months the first years of life.
Adolescence checked every 6-12 months
Reaassure mother she did nothing wrong
Since infants are often asymptomatic urgency must be communicated
Developmental screening
Educate parents that soy milk and iron can interfere with absorption
Crush pill, mix with breast milk or formula, make paste and place on tongue, follow with bottle

Acquired Hypothyroidism:
Recognized after age 2
Primary, secondary or tertiary
Primary caused by autoimmune chronic lymphocytic thyroiditis (Hashimoto's thyroiditis)
Childhood and adolescence - more in girls, diabetes type1, Downs syndrome
Secondary and tertiary are related to pituitary or hypothalmic dysfunction

Pathophysiology:
Antibodies are developed against thyroid gland, it becomes inflamed and destroyed
T4 levels decrease and TSH increases

Diagnosis:
TSH, T4, free T4, Confirmation of thyroiditis with serum thyroid antibodies

Treatment:
Replacing thyroid hormone with L-thyroxine doasge based on weight
*Must be careful child or adolescent may experience side effects of hyperthyroidism if restoration too rapid*
Symptoms of hyperthyroidism > agressive behavior, deterioration in school, increased intracranial pressure
So small dose and titrate up to euthyroid


Hypothyroidism:



Baby Gabriella is just 2 weeks old. Her second newborn testing is positive for Hypothyroidism. Her parents are upset. They feel like they have already been through a lot, since she had to stay in the nursery under bili-lights because of her jaundice. She also has an umbilical hernia which they worried about and now this! They have been looking up the deficiency on the internet and want to know if she has cretinism.

Does she have cretinism? If not why?

Explain to the parents what causes hypothyroidism.

What medicine will she take and why?

What is a good way to administer this with an infant?

Does anything affect the absorption of the medicine?

What are some nursing diagnoses, interventions and outcomes?

Gabriella was born with hypothyroidism but it can also be aquired. Hashimoto's thyroiditis is an autoimmune response. The gland becomes inflamed and is destroyed. Symptoms include fatigue, weakness, constipation and dry skin. Some children may have a goiter. It can be silent with growth delays and delayed teeth eruption. Treatment is replacement of the hormone slowly to avoid a thyroid crisis.

Hyperthyroidism:
Rare before age 10.
More frequent in girls age 11-15.
60% family history
Pathophysiology:
Antibodies formed against antigens in the thyroid gland, orbital tissue and dermis
Antibodies mimic action of TSH causing gland to inappropriately produce thyroid hormone
Goiter present

Clinical Manifestations:
May be overlooked initially > emotional lability, insomnia, increased growth, warm moist skin,
growth patterns may change > weight loss, excellent appetite,
Also > fine tremors, opthalmic changes, heat intolerance, tachycardia
Mistaken for ADHD

Diagnosis:
Serum thyroid tests
TSH suppressed
T3, T4 elevated

Treatment:
Difficult, chronic
Anti-thyroid medication - propylthiouracil (PTU), methimazole (MTZ, Tapazole), blocks synthesis of T3, T4
11-22% have side effects must be discontinued (rash, leukopenia, arthalgia, hair loss, lupus-like symptoms, hepatitis)

Beta-adrenergic blockers propranolol (Inderal) relieve tachycardia, restlessness, tremors

Radioactive iodine therapy (RAI) for over 15 years, tissue destruction in 6-18 weeks, hypothyroidism may occur

Thyroidectomy - noncompliant caregiver or failed other options
Spontaneous remission may occur 25%

Nursing Management:
Teaching about disease
Treatment options
Routine blood tests
Medications
Side effects
Light weight clothing
Low stress, low pressure
Alert school if parents wish
May help monitor behavior, vitals, symptoms

Hyperthyroidism:



This young lady talks about her thyroid levels being low when she was hyperthyroid at age 13. She is referring to her TSH levels were low due to the overabundance of T3 and T4. She then went into remission until she is 21. Then she describes her hypothyroid episode which when treated make her experience hyperthyroid symptoms again. Interesting video.

Hypoparathyroidism:
Rare
May result from congenital disorders (DiGeorge Syndrome), surgical removal of parathyroids, destruction of parathyroid from Wilson's disease or hemachromatosis or medications.

Signs and Symptoms:
Life threatening hypocalcemia (tetany and convulsions)
Hyperirritability, muscle rigidity, seizures, vomiting, abdominal distention, apneic episodes, intermittent cyanosis
Muscle pain, cramps
Positive Chvostek sign (spasm of facial muscles after tapping facial nerve)
Positive Trousseau's sign

Nursing Management:
Access and maintain airway, breathing and circulation
Replace Calcium
Educate parents

Hypocalcemia - Positive Chvostek and Trousseau's signs


Hyperparathyroidism:
Rare
Result of adenoma
Secondary to kidney disease (unable to reabsorb calcium)

Signs and symptoms:
Bone pain
Kidney stones
Pathologic bone fractures
Hypercalcemia - muscle weakness, peptic ulcer disease, fatigue, volume displacement, mental disturbance
Diagnosed by elevated serum calcium and elevated parathyroid hormone (PTH)

Nursing management:
Fluid and electrolyte monitoring
Surgery support
Airway maintenance around trachea due to surgery area
Signs and symptoms of infection
Calcium supplementation after surgery








References:

Hockenberry, M. J. (2009). Chapter 29: The child with endocrine dysfunction. In M. J. Hockenberry & D. Wilson (Eds.), Wong's essentials of pediatric nursing (2009 ed., pp. 1023-1059). St. Louis, MO: Mosby Elsevier.

Videos:

Dr. Jean Dussault Hypothyroidism
http://youtu.be/pH1z1JQwPjA

Hyperthyroidism by Kellbell117
http://youtu.be/-Rit9veaKUA

Hypocalcemia by Larry Mellick
http://youtu.be/hOzOCNCfa_Y

Hypercalcemia by theedexitvideo
http://youtu.be/IXKWpeIinb4
References:

Hockenberry, M. J. (2009). Chapter 29: The child with endocrine dysfunction. In M. J. Hockenberry & D. Wilson (Eds.), Wong's essentials of pediatric nursing (2009 ed., pp. 1023-1059). St. Louis, MO: Mosby Elsevier.

Videos:
Endocrine System
http://youtu.be/-S_vQZDH9hY

Growth hormone deficiency by the Magic Foundation
http://youtu.be/SAljS-uqoh8

Precocious Puberty by Akron Children's Hospital
http://youtu.be/QPV7pnlDOAA

Diabetes Insipidus by isadoraseventeen
http://youtu.be/J0YoJ0xKymY