Endocrinology

Question 1

What is the most common endocrine disease in childhood?

Answer 1

IDDM, occurring in 1 to 500 children and adolescents

Question 2

What is the main risk factor of diabetes mellitus?

Answer 2

family history - first-degree relative, presence of DR3 and DR4 major histocompatibility antigens

Question 3

What is the history of diabetes mellitus?

Answer 3

new-onset weight loss, polydipsia, polyphasic, and polyuria

Question 4

What is the physical exam of diabetes mellitus?

Answer 4

generally normal in type 1 DM unless DKA present

Question 5

How does a child with DKA appear?

Answer 5

the child with DKA appears acutely ill and suffers from moderate to profound dehydration

• symptoms include polyuria, polydipsia, fatigue, headache, nausea, emesis, and abdominal pain
• on pe, tachycardia, and hyperpnea (Kussmaul respirations, fruity odor to the breath due to ketosis

Question 6

How is the dx of diabetes mellitus made?

Answer 6

diagnosis of DM is made by one of the following

• random blood glucose levels of >200 mg/dL + diabetic symptoms
• two separate fasting (8-hours) glucose levels of >126 mg/dL
• 2-hour plasma glucose of >200 on an oral glucose tolerance test (3-hour GTT is the gold standard in GDM)
• glycated hemoglobin (A1C) >6.5 percent
• insulin and C-peptide levels - low or inappropriately normal C-peptide and insulin level with concomitant hyperglycemia
• high fasting insulin and C-peptide levels suggest T2DM

-insulin, GAD65, and IA-2 antibodies - if one or more of the antibodies is present, and especially if two or more are positive, the patient should be presumed to have type 1 diabetes and should be treated with insulin replacement therapy

Question 7

What is the tx of diabetes mellitus?

Answer 7

as a general goal for glycemic control, we suggest a target glycated hemoglobin (A1C) of <7.5 percent of children and adolescents

• intensive insulin therapy combines the administration of a basal level of insulin together with primal boluses of rapid-acting insulin
• multiple daily injections (MDI) - consists of injections of a long-acting insulin analog once or twice daily, and rapid-or-short-acting insulin before each meal and snack
• insulin pump - this is a device that delivers a continuous subcutaneous infusion of a rapid-or-short-acting insulin, which is supplemented by boluses before each meal or snack
• options of blood glucose monitoring include finger sticks (at least four times daily) or one of several type of device for continuous glucose monitoring (CGM)

Question 8

What are most cases of hyperthyroidism in children is caused by what?

Answer 8

Graves’ disease

-other causes include hyper functioning “hot” thyroid nodule or acute suppurative thyroiditis

Question 9

What are the symptoms of hyperthyroidism?

Answer 9

voracious appetite (without weight gain or with weight loss), heat intolerance, emotional lability, restlessness, excessive sweating, frequent loose stools, and poor sleep

Question 10

What are the other symptoms of hyperthyroidism?

Answer 10

• exophthalmos is uncommon in children
• older children may complain of palpitations
• there is often a change in behavior and school performance
• the thyroid gland is generally enlarged, smooth, firm, and contender
• neonatal graves disease, due to the passage of TSH receptor-stimulating antibodies across the placenta
• neonates will have typical hyperthyroid symptoms, including goiter

Question 11

How is hyperthyroidism dx?

Answer 11

• T4 levels are elevated
• T3 is elevated
• TSH is suppressed

Question 12

What is the tx of hyperthyroidism?

Answer 12

PTU, methimazole or radio iodine may be used to treat Graves’ disease and must be titrated carefully because too high a dose can result in hypothyroidism

• treating with methimazole (MMI) rather than propylthiouracil (PTU) because MMI has fewer side effects
• fifty percent of children with Graves’ disease have a spontaneous remission and may be taken off antithyroid medications after 12-24 months of treatment
• all children with a history of hyperthyroidism should have lifelong monitoring of thyroid function, regardless of treatment choice and outcome
• neonatal graves can be controlled with propranolol +/- methimazole, most cases remit within 2-3 months

Question 13

What is the most common cause of juvenile or acquired hypothyroidism?

Answer 13

Hashimoto’s thyroiditis
-other causes include panhypopituitarism, ectopic thyroid dysgenesis, administration of antithyroid medications, and surgical or radioactive iodine ablation for treatment of hyperthyroidism

Question 14

How do congenital hypothyroidism present?

Answer 14

also known as cretinism

• often presents with hypotonia, lethargy, macroglossia, large fontanelles, and dry skin
• it is one of the leading causes of intellectual disability in the world

Question 15

Who does hypothyroidism occur more often in?

Answer 15

girls 4x > than boys, family history

Question 16

When do most children with hypothyroidism present?

Answer 16

adolescence, it is unusual to develop thyroiditis before 5 years of age

Question 17

What are the symptoms of hypothyroidism?

Answer 17

symptoms generally appear after the first year of life include

• cold intolerance
• diminished appetite
• lethargy
• constipation

Question 18

What are the physical findings of hypothyroidism?

Answer 18

delayed puberty, immature body proportions, coarse puffy facies, dry thin hair, dry skin, and DTRs with delayed relaxation time

Question 19

How is hypothyroidism dx?

Answer 19

• decrease T4 and T3
• increased TSH in primary hypothyroidism
• if secondary hypothyroidism is present, the TSH level may be depressed, normal, or elevated
• palpation of thyroid nodule should prompt evaluation with a thyroid scan

Question 20

What is the tx of hypothyroidism?

Answer 20

thyroid replacement with synthetic levothyroxine (Synthroid) is provided and adjusted to maintain normal serum free T4 levels, normal TSH levels, growth, and development
-thyroid function tests should be monitored frequently

Question 21

What are the characteristics of obesity?

Answer 21

• has become one of the most important public health problems in the US
• the history should include the age of onset of overweight and information about the child’s eating and exercise habits, along with medication history, medical history, family history, and psychosocial history
• calculation of body mass index is a clinically practical tool for the assessment of overweight and obesity in children

Question 22

How is obesity dx?

Answer 22

all children older than two years should have their BMI calculated at least annually from measured height and weight
-the results should be plotted on an appropriate growth curve to determine the BMI percentile and trend

Question 23

What BMI is considered underweight for children between 2 and 20 years of age?

Answer 23

BMI <5th percentile for age and sex

Question 24

What BMI is considered normal weight for children between 2 and 20 years of age?

Answer 24

BMI between 5th percentile and <85th percentile for age and sex

Question 25

What BMI is considered overweight for children between 2 and 20 years of age?

Answer 25

BMI >85th to <95th percentile for age and sex

Question 26

What BMI is considered obese for children between 2 and 20 years of age?

Answer 26

BMI >95th percentile for age and sex

Question 27

What BMI is considered severe obesity for children between 2 and 20 years of age?

Answer 27

BMI >120 percent of the 95th percentile values or a BMI >35 kg/m2 (whichever is lower)

Question 28

What labs do you want to draw when you have an obese patient?

Answer 28

lipids, BP, A1C, and fasting glucose, ALT between ages 9 and 11 to evaluate for fatty liver disease -additional testing based on clinical findings may be warranted - PCOS, OSA, Cushing's, hypothyroidism

Question 29

What is the tx of obesity?

Answer 29

overweight and obese children and adolescents with comorbidities should be referred to a pediatric obesity specialist for weight control - referral for severely obese children at any age, particularly those who are younger than two years - one of the first things that can be done is limiting sugar intake, particularly sweet beverages - children between ages 2 to 18 years old should consume less than 25 g or roughly 6 teaspoons, of added sugar each day - one can of soda contains about 39 grams, or 9 teaspoons of sugar - one apple juice carton contains about 28 grams, or 7 teaspoons of sugar - ideally, plates should be about 1/2 fruits and vegetables, 1/4 whole grains (like rice or pasta), and 1/4 protein

Question 30

What is a common concern for parents?

Answer 30

short stature

Question 31

What is a normal cause for short stature?

Answer 31

normal causes include familial (genetic short) stature and constitutional deny -eighty percent of cases of short stature are attributed to these two causes

Question 32

What are the characteristics of familial short stature?

Answer 32

- children with familial short stature establish growth curves at or below the fifth percentile by the age of 2 - they are otherwise completely healthy, with a normal physical exam - these children have normal bone age, and puberty occurs at the expected time

Question 33

What are the characteristics of constitutional delay?

Answer 33

children grow and develop at or below the fifth percentile at normal growth velocities - this results in a curve parallel to the fifth percentile - puberty is delayed which results in a delay in the bone age

Question 34

What cause may result in either disproportionate or proportionate short stature?

Answer 34

pathologic causes

Question 35

What are the characteristics of disproportionate short stature?

Answer 35

is characterized by short limbs but an average-sized trunk | -rickets and achondroplasia (dwarfism)

Question 36

What are the characteristics of proportionate short stature (PSS)?

Answer 36

is when the person is small, but all the parts are in the usual proportions - prenatal etiologies include intrauterine growth retardation, placental dysfunction, intrauterine infections, teratogens, and chromosomal abnormalities (trisomy 21 and Turner's syndrome) - postnatal causes include malnutrition, chronic systemic disease, psychosocial deprivations, drugs and endocrine disorders (hypothyroidism), GH deficiency, glucocorticoid excess, and precocious puberty

Question 37

How is short stature dx?

Answer 37

because most cases of short stature result from ether familial short stature or constitutional delay, diagnosis studies are generally not necessary unless abnormalities are found on the exam - bone age (AP x-ray of the left wrist) helps delineate familial short stature from constitutional delay - an advanced bone age = precocious puberty - a normal bone age = familial short stature - delayed bone age = constitutional delay - thyroid function tests = rule out hypothyroidism - urinalysis and renal function tests = rule out chronic renal disease - CBC and SED rate = chronic system infection - albumin and total protein to determine the child's nutritional status - IGF-1 and IGF-BP3 to look for GH deficiency - karyotype = chromosomal anomaly - MRI of the head = hypothalamic or pituitary process that is resulting in decreased GH secretion from the pituitary

Question 38

What are the characteristics of hypercalcemia?

Answer 38

less common in children than in adults but is more likely to be clinically significant in younger patients - clinical features may be nonspecific in neonates and infants, and hypercalcemia is often discovered when a chemistry panel is obtained to evaluate failure-to-thrive - primary hyperparathyroidism is far less common in children and adolescent than in adults - nearly all patients (79%) are symptomatic at presentation and end-organ damage (nephrocalcinosis, nephrolithiasis, acute pancreatitis, or bone involvment) is common (44%)

Question 39

How is hypercalcemia dx?

Answer 39

serum calcium concentrations are greater in children than in adults, therefore the diagnosis of hypercalcemia in younger patients requires the use of age-appropriate normal ranges

Question 40

What is the tx for hypercalcemia?

Answer 40

the initial approach to the medical treatment of severe or symptomatic hypercalcemia is to increase the urinary excretion of calcium - in most cases, hypercalcemia is due to osteoclastic bone resorption and agents that inhibit or destroy osteoclasts are therefore effective treatment (calcitonin, bisphosphonates, zoledronic acid) - parathyroid surgery, the conventional treatment for adults with symptomatic primary hyperparathyroidism, is recommended for all children with primary hyperparathyroidism