Endocrinology Flashcards Preview

Peds > Endocrinology > Flashcards

Flashcards in Endocrinology Deck (393):
1

What is responsible for the formation of male external genitals?

Presence of androgens

2

What results in the regression of female internal duct structures?

Presence of mullerian inhibiting factor

3

What is the default pattern of differentiation of the genital system?

Towards phenotypic "femaleness"...unless the system is dominated by the influence of androgens and mullerian inhibiting factor

4

What is the sequence of male pubertal development?

Testicular growth - Pubarche - Penile growth - Peak height velocity

5

What is the first sign of pubertal development in males?

Testicular enlargement

6

What defines testicular enlargement?

Testicular length greater than 2.5cm... indicates the onset of puberty

7

When do boys typically being puberty (testicular enlargement)?

Between 10-11

8

What is typically done for gynecomastia in a male or asymmetric breasts in a female?

Nothing... this is normal and you usually just need to reassure them

9

What condition presents with gynecomastia that you need to watch out for other signs/symptoms?

Klinefelter

10

What 2 situations with breast development should be considered an abnormal finding?

History of exposure to ketoconazole or bilateral gynecomastia in males

11

What street drug can cause galactorrhea?

Marijuana

12

What suggests androgen stimulation from outside the gonadal area in a male?

Pubic hair development and penis enlargement in the absence of testicular enlargement

13

What is the sequence of female pubertal development?

Breast budding - Pubarche - Peak Height Velocity - Menarche

14

When can females begin puberty?

As young as age 8... prior to this is considered abnormal

15

When is puberty defined as delayed?

If there are no pubertal signs by age 14 in boys and no breast development by age 13 in girls

16

What is the most likely cause of delayed puberty in boys?

Constitutional delay of puberty

17

What is your clue that delayed puberty is benign?

The growth curve they will show you for delayed puberty is likely to look exactly like the one for constitutional delay of growth...if growth curve is abnormal, then consider other conditions as the cause for the delay.

18

With constitutional delay of puberty, what is the typical bone age?

Typically 2 or more years delayed

19

What are 3 common/important things to consider with delayed puberty in girls?

1. Constitutional delay of puberty
2. Functional gonadotropin deficiency (anorexia nervosa)
3. Primary ovarian failure (Turner Syndrome)

20

True or False: Delayed puberty has various psychosocial effects on teens (boys more than girls).

True...many feel inadequate and report that their lack of development has affected their success either at work, at school, or socially.

21

Should kids with delayed puberty be evaluated by endocrinology?

Yes

22

How are boys with delayed puberty treated?

Monthly IM injections of testosterone

23

How are girls with delayed puberty treated?

Oral estrogen (higher doses required for those girls with Turner Syndrome)

24

What is it called when a girl has the presence of androgenic sexual characteristics (axillary hair, pubic hair, acne, and/or adult body odor) without estrogenic sexual characteristics (breast development and menarche) and without the growth spurt of puberty?

Premature adrenarche

25

What are the 3 lab findings associated with premature adrenarche?

1. Elevated serum dehydroepiandosterone (DHEA)
2. Elevated serum dehydroepiandrosterone-sulfate (DHEA-S)
3. Low concentrations of testosterone

26

Does premature adrenarche require treatment?

No

27

What are 3 things that can cause adrenarche in males or females?

1. Exogenous androgen
2. Endogenous androgen-secreting tumor
3. Late-onset congenital adrenal hyperplasia

28

What hormone producing tumors can cause pubertal change in boys, but not girls?

Tumors producing HCG

29

What hormones do girls require to stimulate ovarian estrogen production?

LH and FSH

30

Which hormone is somewhat elevated and low in kids with premature adrenarche?

DHEA-S is somewhat elevated
Testosterone concentrations are low

31

What is thought to be a primary factor in the increased incidence of premature adrenarche in overweight children?

Insulin resistance

32

What can be an early sign of polycystic ovary syndrome in adolescent girls?

Premature adrenarche

33

What are 2 benign conditions that don't represent true precocious (central) puberty?

1. Premature adrenarche
2. Premature thelarche

34

What is required with respect to bone age to be premature adrenarche or premature thelarche?

They bone age must not be advanced more than one year. If bone age is advanced, must consider other causes for symptoms

35

How does benign premature thelarche present?

Unilateral or bilateral breast development in the absence of other symptoms

36

When is benign premature thelarche usually present?

Before age 4... this is a relatively benign finding

37

In what % of cases does true central precocious puberty develop later on after benign premature thelarche?

10%

38

Girls with benign premature thelarche have an increased risk for developing what?

Ovarian hyperandrogenism (PCOS)

39

What is premature thelarche?

Breast development in girls younger than 8 in the absence of other sexual characteristics

40

What are some causes of premature thelarche?

1. Usually benign an due to premature activation of hypothalamic-pituitary axis
2. Exogenous estrogen
3. Estrogen-producing tumor

41

What are some sources of exogenous sex steroids?

1. Skin preparations
2. Oral contraceptive medication exposure
3. Weight lifting steroids
4. Plant-based phytoestrogens
(Don't forget to consider an estrogen-producing tumor)

42

Development of secondary sexual characteristics that are accompanied by acceleration in linear growth (crossing percentiles) or advanced bone age is indicative of what?

True central puberty

43

At what age for boys and girls is true central puberty defined as precocious?

Before age 9 in boys
Before age 8 in girls

44

If true central precocious puberty is caught early enough, what is one possible treatment?

Leuprolide... this is a GnRH agonist which will arrest the progression (very expensive)

45

Which groups of patients is leuprolide more often recommended for?

1. Male patients
2. Younger than 6
3. Very rapidly advancing bone age
4. Psychosocial disturbances
This is decided in consultation with endocrinology

46

What is the only significant consequence of true precocious puberty?

Short adult height

47

What is the best approach to think when working up precocious puberty?

Anatomically from top to bottom

48

When you hear "optic fundus abnormal" or "visual field deficits", what should you think?

CNS lesion...possibly a pituitary mass

49

"Acne", "Facial and axillary hair", "muscle bulk"

Androgenic

50

Change in vaginal color and more prominent labia minora

Estrogenic

51

What test can be done to look for an adrenal (premature appearance of pubic hair) or ovarian (premature breast development) mass?

US

52

What imaging study is helpful in drawing a comparison between bone age and chronological age?

Bone age XR

53

Name some causes of central precocious puberty (true precocious puberty) that can be found by MRI.

1. Hamartoma
2. Hydrocephalus
3. Arachnoid or ventricular cysts
4. Meningitis
5. Encephalitis
6. Neoplasms
7. CNS trauma

54

Which 3 lab tests help differentiate peripheral from central endocrinology disorders?

1. LH
2. FSH
3. Adrenal steroids

55

What can ambiguous genitalia be confused with?

Micropenis

56

What constitutes a micropenis?

Normally-formed penis with the meatus in the right place and testes present within the scrotal sacs

*Ambiguous genitalia might not have testes present or the meatus in the proper place

57

Describe a patient with androgen insensitivity syndrome (used to be called testicular feminization syndrome)

Genetic male, but on the outside they are perfectly normal looking females. They have a blind-ending vagina and no uterus.

58

What causes androgen insensitivity syndrome?

Genetic males with end organ insensitivity to androgens which results in the inability to develop male external genitalia

59

True or False: True hermaphroditism (both ovarian and testicular tissue) is extremely rare

True...unlikely to be correct answer

60

What is a deficit in all hormones produced by the pituitary gland?

Panhypopituitarism

61

What should you think in a patient who presents with a micropenis and hypoglycemia?

Panhypopituitarism

62

If you suspect panhypopituitarism, what should you do next?

Check ALL pituitary hormones

63

What 3 syndromes can panhypopituitarism be a part of?

1. Prader-Willi (sick Willy)
2. Kallmann (poor sense of smell)
3. Septo-optic dysplasia

64

If you have a female present with inguinal masses, what should you consider?

That these could be testes and she has androgen insensitivity syndrome

65

Patient presents with primary amenorrhea and workup reveals no uterus or ovaries?

Androgen insensitivity syndrome

66

How is androgen insensitivity syndrome inherited?

X-Linked

67

Why do patients with androgen insensitivity syndrome have no uterus or ovaries?

Mullerian inhibiting factor is produced...so there is no development of ovaries or uterus (why the vagina ends in a blind pouch)

68

Child who is phenotypically female. Hint that kid is genetically male. Describes an X-linked disorder... what is diagnosis?

Androgen insensitivity syndrome

*Watch for signs of a genetic male and description of an X-linked disorder. Don't rule out x-linked disorders just cause they give phenotypical description of female gender.

69

What are 2 ways the adrenals can stop working?

1. They can stop functioning on their own (primary)
2. Shut down if not getting signal from pituitary (secondary) which is ACTH

70

What is the most common cause of adrenal insufficiency in infants?

Congenital adrenal hyperplasia

71

How and when does CAH present?

Often (but not always) in newborn period with a shocky/septic picture

72

What are the genital findings with CAH in males and females?

1. Males: No ambiguous genitalia, but there could be excessive scrotal pigmentation
2. Females: Ambiguous genitalia

73

What are some descriptions they will use for female ambiguous genitalia?

1. Ruggated labia
2. Clitoral hypertrophy

74

What causes the male features in CAH?

Increased androgen levels

75

Patient with growth delay. No medical care to date. History of hirsutism and amenorrhea. Most likely underlying condition?

CAH...can present beyond newborn period, so don't rule this out because the kid hasn't gotten medical intervention to date

*There is also a late-onset form of CAH that can be considered as a possible cause of growth delay

76

How is CAH inherited?

Autosomal Recessive

77

What can be due to cortisol production being blocked?

CAH

78

What is required to produce both aldosterone and cortisol?

21-Hydroxylase... when this is blocked, production of steroids leading up to the block is increased

79

What causes the virilization seen in CAH?

Increased levels of testosterone... due to 21-Hydroxylase deficiency and build up of steroids (because aldosterone and cortisol can't be produced)

80

What is important to note in family history if a male or female patient presents with virilization?

Family members taking prescribed testosterone gels for hypogonadism... this can be absorbed by other close contacts

81

Labs that imply other "salt-wasting disorders" (besides CAH), family history of early death, implication of ambiguous genitalia

CAH... don't be tricked into thinking this is CF. CF has an increased amount of sodium present in sweat, resulting in decreased serum sodium and "salt wasting". So even though CF is a salt water, it doesn't have anything to do with ambiguous genitalia

82

What is the most common cause of CAH?

21-hydroxylase deficiency

83

What lab values are seen in the salt-wasting variety of CAH?

1. Hyperkalemia
2. Hyponatremia

84

What specific hormone has high levels in 21-hydroxylase deficiency?

17-hydroxyprogesterone (this is the precursor before the deficient enzyme)

85

How is newborn screening for CAH done?

17-hydroxyprogesterone assay

86

What should be done of the 17-hydroxyprogesterone assay for CAH is elevated?

Repeat the test

87

If a repeat test of the 17-hydroxyprogesterone assay for CAH is elevated, what is next?

Measure serum electrolytes and urinary sodium/potassium excretion

88

True or false: Prenatal screening of CAH is available via molecular genetic testing of fetal cells

True

Measurement of 17-hydroxyprogesterone in amniotic fluid is not the correct answer...not how prenatal screening is done anymore

89

How is CAH treated?

Glucocorticid....usually as hydrocortisone

If hydrocortisone is given in high enough doses, it will have a mineralocorticoid effect in addition to a glucocorticoid effect

90

What are the 2 main hormones secreted by the adrenal glands?

1. Aldosterone
2. Cortisol

91

Which hormone secreted by the adrenal glands helps control the amount of salt and fluid in the body?

Aldosterone

92

Which hormone secreted by the adrenal glands helps control how the body uses sugar and how it responds to stress?

Cortisol

93

What is most likely to occur in primary adrenal insufficiency because of the associated mineralocorticoid deficiency and salt loss?

Adrenal crisis

94

True or False: Adrenal crisis is a medical emergency that may lead to shock and death if not recognized and treated promptly

True

95

Name symptoms of adrenal crisis.

Anorexia, vomiting, abdominal pain, weakness, fever, fatigue, lethargy, hypotension, confusion, coma (these are sudden and vague)

96

What are electrolyte abnormalities in adrenal crisis?

1. Hypoglycemia
2. Hyponatremia ("salt-wasting")
3. Hyperkalemia

97

What are the 3 steps to treating and adrenal crisis?

1. Give 20mL/kg of D5NS (with no K) IV over 1 hour
2. Add IV hydrocortisone
3. Add glucocorticoid replacement (after crisis has been treated)

98

What lab value can be elevated in adrenal insufficiency and what diagnosis might this trick you into thinking?

Antidiuretic hormone (ADH)... in this case the elevation can be an appropriate response

-Could fool you into choosing SIADH

99

Name 3 reasons the adrenals might stop working.

1. Autoimmune disease
2. Infection
3. Idiopathic
*There are a variety of reasons

100

What is the message in the brain when the adrenals stop functioning?

"Pour out ACTH by the bucketful"

101

What causes the hyperpigmentation in primary adrenal deficiency (Addison Disease)?

Increased ACTH (elevated ACTH stimulates melanin production)

102

In primary adrenal deficiency (Addison Disease) you have a ton of ACTH being produced, but no aldosterone produced, which leads to what 3 lab values?

1. Salt wasting
2. Hyperkalemia
3. Hyponatremia
(Fatigue and weight loss are other signs)

103

How are patients with adrenal insufficiency usually treated?

1. Fludrocortisone (for mineralocorticoid replacement)
2. Hydrocortisone (for glucocorticoid replacement)

104

What type of disease is Addison disease and what are the implications of this?

Usually autoimmune... these patients are at risk for other endocrine disorders including diabetes, ovarian failure, and hypothyroidism

105

Where is the problem in secondary adrenal deficiency?

The pituitary...there is no problem with the adrenal gland itself

106

What happens to ACTH in secondary adrenal deficiency?

It is low... the pituitary makes ACTH and the pituitary is the problem in secondary adrenal deficiency

107

What happens to ACTH in primary adrenal deficiency?

ACTH levels are high

108

True or False: In secondary adrenal deficiency, you find hyperkalemia, hyponatremia, and salt wasting?

False: Since there is normal aldosterone, there is no hyperkalemia, hyponatremia, or salt wasting

109

Which form of adrenal deficiency has hyperpigmentation and why?

Primary... there is no hyperpigmentation in secondary because there is no excess ACTH

110

How do people who abruptly stop taking adrenocorticoid or glucocorticoid medication present?

Signs of adrenal insufficiency... muscle weakness, decreased cardiac function (increased pulse and decreased BP)

111

Are electrolyte imbalances seen in adrenal insufficiency due to medication withdrawal?

No

112

What stimulates the pituitary to release ACTH?

CRH

113

What can CRH be used to distinguish between?

Pituitary disorders from hypothalamic failure in secondary adrenal deficiency

114

What happens in the cosyntropin stimulation test (ACTH stimulation test) if you have primary adrenal deficiency?

No rise in cortisol levels

115

What happens in the cosyntropin stimulation test (ACTH stimulation test) if you have secondary adrenal deficiency?

Cortisol is released during the test...the adrenals usually have normal cortisol stores

116

What is tested with the cosyntopin stimulation test (ACTH stimulation test)?

Adrenals

117

What morphological feature will be in the question if they are hinting at secondary adrenal deficiency (with the problem being in the pituitary)?

Midline defects... cleft lip and/or palate

118

Patient treated chronically for adrenal insufficiency with oral mineralocorticoid and hydrocortisone. Patient is going for surgery or has an acute febrile illness including vomiting... how do you adjust your medications?

-In context of vomiting patient or patient going for surgery, give parenteral hydrocortisone, typically hydrocortisone hemisuccinate (there is no such thing as parenteral mineralocorticoid)

*Don't pick IV/IM mineralcorticoid or oral medication variations

119

What is cosyntropin?

Synthetic corticotropin (ACTH 1-24)

120

What does Cushing syndrome refer to?

Glucocorticoid excess of any origin

121

What refers to the excessive production of corticotropin by the pituitary gland, which leads to excess cortisol production by the adrenal gland?

Cushing disease

122

Name classic features of Cushing syndrome

Acne, purple striae, hirsutism, virilization, and buffalo hump

123

What does Cushing almost always lead to in children?

Increased BMI with growth arrest (gain in weight without gain in height)

124

Obesity due to increase caloric intake leads to what?

Gain in weight and gain in height

125

What is seen in bone age for children with Cushing?

Delayed bone age (children with non-Cushing obesity will have advanced bone age)

126

What is important to note if they present you with an obese child and ask for most likely diagnosis?

Growth arrest... if they gain weight and height, probably increased caloric intake. If it is just weight with no gain in height, think Cushing.

127

What is the most common cause of Cushing syndrome (in both kids and adults)?

Chronic use of topical, inhaled, or oral corticosteroids

128

What is treatment of Cushing syndrome caused by medication?

Stop the medication

129

What is Cushing syndrome in infants often caused by?

McCune Albright syndrome

130

Name 3 tests to confirm excess cortisol production (endogenous or exogenous)?

1. 24-hour urinary free cortisol excretion
2. Midnight sleeping plasma cortisol level
3. Dexamethasone suppression test

131

What test is the cold standard for confirming hypercortisolism?

24-hour urinary free cortisol excretion

132

Which test has the greatest sensitivity of all tests for Cushing Syndrome in children?

Midnight sleeping plasma cortisol level

133

In Cushing Syndrome, what should dexamethasone suppression tests lead to?

Undetectable plasma cortisol levels after dexamethason administration

134

What are the levels of morning corticotropin in cases of Cushing syndrome from adrenal tumors?

Undetectable

135

If you suspect Cushing syndrome from an adrenal tumor what is the next step (after you see undetectable corticotropin levels in the morning)?

Adrenal CT or MRI to try to locate the tumor

136

If a morning corticotropin level is elevated, what should be done next?

Pituitary MRI

137

What is the peak growth velocity prior to puberty?

5-6 cm/year

138

When does a slight, but significant deceleration in height growth occur?

Just before puberty

139

What happens to growth rate during puberty?

There is a gradual increase in growth rate

140

When does peak growth velocity reach its maximum?

Around SMR 3 in both boys and girls

141

When does peak growth occur in boys versus girls?

Occurs in boys roughly 2 years after girls

142

How long before menarche does peak growth velocity occur in girls?

About 1.5 years before menarche

143

Once females have reached menarche, they are within how many inches of their adult height?

1-2 inches

144

Maturing earlier usually means what for height?

Shorter adult height

145

True or False: Growth hormone deficiency is a common cause of short stature on boards?

False: When you are presented with short stature, look for clues for other causes like hypothyroidism, syndromes (Hurlers, Hunters, Morquio, or Turner), chronic illness, familial short stature, or constitutional short stature

146

What are 2 correct scenarios for growth hormone deficiency on boards?

1. Kid with headaches and growth attenuation due to a space-occupying lesion
2. Congenital GHD

147

What can impact pituitary hormone secretion (including growth hormone secretion)?

Cranial irradiation...it is important to monitor for growth hormone deficiency in kids receiving cranial irradiation therapy

148

When and how does congenital growth hormone deficiency present?

1. Usually during infancy (around 6 months)
2. Slowed growth

149

What is the triad of congenital growth hormone deficiency?

1. Micropenis
2. Hypoglycemia
3. Short stature

150

Name 3 clues to congenital growth hormone deficiency (besides micropenis, hypoglycemia, and short stature)?

1. Septo-optic dysplasia
2. Breech presentation
3. Prolonged jaundice

151

What can happen to bone age in congenital growth hormone deficiency?

It can be significantly delayed

152

4 year old child who was at the 50th percentile for both height and weight at birth. She is now at the 25h percentile for weight, but her height is below the 5th percentile. No family history of short stature. Physical exam is non-contributory. Cause?

Growth hormone deficiency...(could also be hypothyroidism if this was a choice)...If she went from 50% for height to less than 5%, she didn't triple her height or grow 5cm/year

NOT:
-Constitutional growth delay: Parents have no history
-Inadequate nutrition: Weight at 25%

153

What is seen with height and weight for kids with nutrition deficiency?

Underweight and underheight (as evidence of chronic malnutrition)

154

What is seen with bone age in kids with nutrition deficiency?

Bone age is normal

155

Kid with growth delay who is otherwise asymptomatic. Most likely cause/next step to establish diagnosis?

Order an ESR...Crohn's disease can result in growth delay, which can precede GI symptoms (don't rule this out just because the kid is asymptomatic)

*If elevated ESR is included in labs, this could be the clue for this being Crohn's too

156

Which growth delay is noted as the classic "late bloomer"?

Constitutional growth delay

157

Which gender is constitutional growth delay more common in?

Males

158

What is typically described in family history of someone with constitutional growth delay?

History of similar growth pattern in father and brother

159

What can be seen in the growth curve of a kid with constitutional growth delay?

Growth curve may show a decrease in growth rate, usually in early teen years

160

What are the 2 "rules" in constitutional growth delay?

1. Delayed onset of puberty
2. Bone age below chronological age )

161

When does increased growth velocity occur with constitutional growth delay?

Later onset of the increased growth velocity... growth rate may accelerate at around age 16

162

Besides height, what else lags behind with constitutional growth delay?

Sexual development

163

What is the memory aid for constitutional growth delay and bone age?

Bone age is below (younger than) chronological age...think of the gap as the "bud" for the later bloomer to blossom in the spring

164

What is the best way to assess for growth delay?

Compare bone age to chronological age

*Also look at family history (remember, least invasive and less exotic the answer, more likely it is to be correct)

165

When is a workup warranted for growth velocity that is blunted in early adolescence?

When this is preceded by poor weight gain

166

Name an example of a GI condition that can cause growth delay and can be distinguished from constitutional growth delay through lab studies?

Celiac disease

167

15 year old male who is short for his age, low SMR. Growth velocity is normal. Father had same "problem" and received "shots". Most appropriate intervention?

Reassure and wait...this is constitutional growth delay

*If they note history of maternal delayed onset of menarche, this is associated with constitutional growth delay in boys and girls
*Father getting IM shots is diversion...this tells you nothing

168

What is it called when someone is just plain short?

Familial short stature/Genetic short stature

*Sometimes short kids are just kids who are from "short stock", and will grow up to be short adults

169

What are some indications that a short kid is just familial short stature?

1. Around or below 5th percentile for height
2. Bone age equal to chronological age
3. Growth velocity normal
4. May mention parents are short as well

170

Parents want to know potential height. Give parents' heights, but imply that one or both parents were malnourished growing up.

Child will likely be taller than the parents, assuming the child is receiving adequate nutrition

*Diversion is giving parents heights...don't miss factoring in parents' failure to reach their genetic potential due to malnourishment

171

How can you distinguish familial short stature from constitutional growth delay?

In familial short stature, bone age is equal to chronological age

172

Name 4 syndromes that make you short

1. Turner Syndrome
2. Achondroplasia
3. Premature puberty
4. Hypothyroidism

173

What is an example of a syndrome that makes you short, but might not become evident until puberty?

Turner

174

Pedal edema, webbed neck, shield-like chest, scant breast tissue...what should be considered as part of workup?

Karyotype to rule out Turner

175

What syndrome should be considered in any short female?

Turner (even if they don't mention any of the phenotypic hints)

176

How are Turner patients often treated to help with their growth?

Growth hormone

177

Name a syndrome that presents with short stature, but the short stature isn't proportionate.

Achondroplasia

178

Why does premature puberty cause the patient to be short?

Increased androgens result in premature closure of growth plates

179

Describe the height and weight of a kid with hypothyroidism.

Short and overweight (rarely described this way)

180

What happens with the bone age in kids with hypothyroidism?

Delayed bone age...might describe an 11 year old with height consistent with a 9 year old, and bone age of 7 year old

181

Name 4 clues that would be consistent with hypothyroidism.

1. Cold intolerance
2. Constipation
3. Dry skin
4. Myxedema (relatively "hard edema" of the subcutaneous tissue)

182

What lab studies in addition to karyotype are appropriate in a patient suspected of having Turner syndrome?

1. LH
2. FSH
3. Estradiol
4. TSH

183

What happens to LH and FSH in girls with Turner syndrome?

LH and FSH are expected to be elevated (due to ovarian failure)

184

What happens to estradiol levels in Turner syndrome?

Low

185

Which test is not useful in girls in early puberty to evaluate for Turner syndrome?

Estradiol...although these would be low in Turner, estradiol assays might not provide an accurate picture in early puberty...so this would not be a useful measure in girls in this age group with suspected Turner syndrome

186

For a girl in early puberty, which tests are better to evaluate for Turner syndrome?

LH and FSH... not estradiol

"Fish for Turner with FSH and LH, than turn the dial of Estradiol"

187

Why are TSH levels warranted in evaluating for Turner syndrome?

Turner is associated with a higher risk of hypothyroidism (TSH would be elevated in primary hypothyroidism)

188

What would you expect TSH to be in Turner Syndrome?

Elevated (primary hypothyroidism)

189

If you are presented with a child who is "tall" for age and asked for the most important determinant for adult height..?

Sexual maturity rating

190

If you are presented with a "tall" kid, what can be used to predict adult height?

Bone age XR...this will help determine how much additional growth is left

191

Name 4 conditions that can cause tall stature.

1. Klinefelter syndrome
2. Marfan syndrome
3. Soto's syndrome
4. High caloric intake

192

True or False: A child with Klinefelter syndrome will appear physically normal at birth

True (eventually they will be tall)

193

What is the genomic issue with Klinefelter syndrome?

47 XXY

194

What are 3 other problems with Klinefelter syndrome besides tall stature?

1. Learning disabilities (intelligence is often normal)
2. Small testicles
3. Gynecomastia

195

What is one of the main features of Marfan Syndrome?

Cardiac defect (including aortic aneurysm)

196

Sudden death with tall stature?

Marfan Syndrome...these individuals are at risk for sudden death

197

Describe the stature of a patient with Marfan syndrome

-Disproportionately long legs and arms in comparison to trunk
-Significantly long tapering fingers...arachnodactyly (spider fingers)

198

Larger than normal head circumference as well as cognitive deficits...most likely presented in the context of parents who aren't tall

Soto's Syndrome

199

What is the problem with a kid who is tall, often overweight, and has normal to advanced bone age?

High caloric intake (big and fat)

200

What is one way to distinguish between exogenous obesity and endogenous obesity?

1. Exogenous obesity tends to be tall
2. Endogenous obesity (secondary to endocrine disorders) tend to be short

201

What were patients with congenital hypothyroidism previously known as?

Cretins

202

Why is untreated hypothyroidism a rare disorder in real life (except on Boards)?

Neonatal screening thyroid tests are now performed routinely

203

What % of hypothyroid infants have no clinical manifestations at birth?

More than 95%...symptoms develop over time

204

Name some findings associated with congenital hypothyroidism.

Non-specific...poor feeding, jaundice
More specific...constipation, hypotonia, hoarse cry, large tongue (macroglossia), umbilical hernia, large anterior fontanelle

205

What is the most preventable cause of potential intellectual disability?

Hypothyroidism

206

What % of hypothyroidism is sporadic and usually due to what?

85%...usually due to thyroid dysgenesis (aplasia, hypoplasia, ectopy)

207

What do most states use for newborn screening?

Initial total T4 followed by TSH testing when needed

208

What is needed for infants who fail a thyroid newborn screen?

Immediate testing of free T4 and TSH... most experts recommend starting newborns on oral levothyroxine (Synthroid) while lab results are pending

209

How is oral tablets of Synthroid given to babies?

They should be crushed and mixed in formula, human milk, or water... but NOT with soy formulas (reduces the absorption of T4)

210

What are the consequences of delayed treatment of congenital hypothyroidism?

Long-term consequences...learning disabilities, cognitive deficits, clumsiness and diminished fine motor skills. The longer the diagnosis and treatment are delayed, the lower the IQ.

211

If you are presented with a teenager with TSH results that are inconsistent with treatment, what is likely the correct explanation?

Poor compliance

212

Which lab results are important before changing the dose of thyroxine in someone with congenital hypothyroidism?

Both free T4 and TSH

213

What are T4 and T3 reversibly bound to?

Thyroid binding globulin

214

Which form of thyroid hormone is metabolically active?

Free unbound hormone (not bound to TBG)

215

Under which 4 findings is a deficiency in TBG suspected?

1. Low serum total T4 concentrations (what is measured in most newborn screen assays)
2. Normal free T4
3. Clinically euthyroid patient
4. Normal TSH

216

How is diagnosis of thyroxine binding globulin deficiency made?

Confirmed by measuring a TBG level

217

How is thyroxine binding globulin deficiency treated?

Thyroid replacement isn't necessary...normal free T4 concentrations are maintained and the patients remain euthyroid

218

Secondary hypothyroidism can be caused by disease at which 2 levels?

Hypothalamic or pituitary

219

In secondary hypothyroidism, what happens to TSH and free T4?

TSH may be low or normal
Free (unbound) T4 is low

220

What is Hashimoto thyroiditis also known as?

Chronic lymphocytic thyroiditis

221

What type of disease is Hashimoto thyroiditis?

Autoimmune disease characterized by antibodies to thyroid tissue and lymphocytic infiltration

222

Which gender is hashimoto thyroitis more common in?

Females (as with most autoimmune conditions)

223

What is the most common cause of acquired childhood hypothyroidism and of goiter in adolescents?

Hashimoto thyroiditis

224

What is the thyroid state of patients with Hashimoto thyroiditis?

Clinically euthyroid or hypothyroid

225

How do many cases of Hashimoto thyroiditis present?

Most are asymptomatic and discovered by the presence of a goiter

226

If you have a patient with a goiter who has Hashimoto thyroiditis, but is asymptomatic what needs to be checked regularly?

TSH

227

True or False: Some cases, patients with Hashimoto thyroiditis can develop a thyrotoxicosis known as Hashitoxicosis

True...watch for clues for Hashimoto disease in a patient who is also hyperthyroid

228

What should be considered if you are presented with a child who "suddenly" develops ADHD?

Hashitoxicosis....thyrotoxicosis in a patient with Hashimoto thyroiditis

229

Hashimoto can be a part of what polyendocrine autoimmune syndromes?

Schmidt Syndrome: Adrenal involvement, APS, or PGA type II, typically in adults

230

What endocrine disorder can occur with Hashimoto thyroiditis?

Type 1 DM

231

Hashimoto thyroiditis is common in people with what types of disorders?

Chromosomal disorders...Down syndrome, Turner syndrome, and Klinefelter syndrome

232

What is key for diagnosis of Hashimoto thyroiditis?

TSH (since T4 can be normal in compensated hypothyroidim)

233

What things should you look for in the blood to help diagnose Hashimoto thyroiditis?

1. Anti-thyroglobulin
2. Anti-thyroid peroxidase

234

Memory aid for Hashimoto thyroiditis?

-2 O's to remind you hypOthyroidism is the more typical presentation
-I to remind you that it can present with transiently high thyroid hormone

235

What is treatment for Hashimoto thyroiditis?

Lifelong levothyroxine replacement

236

How can you distinguish between hyperthyroidism in Graves and Hashimoto?

Radioactive iodine uptake...Elevated in Graves and normal or low in Hashimoto

-Presence of bulging eyes may tip you off that it is Graves, but the absence doesn't rule it out
-Can measure human thyroid stimulating immunoglobulin, but this can't be done everywhere

237

What is the difference for treatment of hyperthyroidism between Graves and Hashimoto?

-Antithyroid therapy is appropriate with Graves disease, but inappropriate with Hashimoto (this is usually transitory and requires only monitoring)

238

What is Graves disease caused by?

IgG antibody...known as thyroid-stimulating immunoglobulin (known as LATS during early 80s)

239

What is pathognomonic for Graves disease?

Bulging eyes (infiltrative opthalmopathy)

240

What might they describe for a child with Graves disease?

-Emotional lability (since kids with Graves disease tend to be "revved up"...don't be tricked into thinking this is a psychiatric diagnosis)
-Weight loss
-Sleep disturbance
-Heat intolerance
-Lid lag

241

What are some subtle findings that can be seen in more mild Graves disease?

Increased appetite with weight loss, decreased muscle strength or endurance, decreased school performance, hyperactivity, itching, tremors, sweating, increased urination at night, decreased menstrual flow, and/or decreased frequency of menses

242

What is the first line drug treatment of choice for Graves disease?

Methimazole

243

How does methimazole work?

Blocks organification of iodide and so decreases thyroid hormone synthesis

244

Patient with emotional lability and hyperactivity, information hinting at diagnosis of Graves Disease buried in the question...

Consider a diagnosis of Graves disease in emotionally labile and disorganized kids...especially if they provide physical and other findings consistent with Graves disease...don't fall for diversion to draw you away from a diagnosis of Graves and towards a diagnosis of bipolar or ADHD by emphasizing the emotional lability or disorganization

245

What is neonatal thyrotoxicosis due to?

Maternal thyroid stimulating antibodies crossing the placenta

246

How does neonatal thyrotoxicosis present?

Irritability, tremors, and tachycardia in the immediate newborn period

Can also see failure to thrive, feeding problems, and hyperbilirubinemia

247

How do you distinguish between neonatal thyrotoxicosis and inborn errors of metabolism?

Neonatal thyrotoxicosis presents in immediate newborn period while inborn errors of metabolism usually do not manifest in the immediate newborn period

248

What are symptoms in utero of neonatal thyrotoxicosis?

Increased heart rate and a high output state

249

What does lab testing reveal in neonatal thyrotoxicosis?

Low TSH, High free T4

250

Why is an immediate post-birth thyroid level indicated in neonatal thyrotoxicosis?

Because of the risk of cardiac arrhythmias

251

What is the treatment for neonatal thyrotoxicosis?

Methimazole until the maternal antibodies are cleared

252

True or False: A solitary thyroid nodule can be a sign of thyroid cancer?

True

253

True or False: There is a greater chance of a thyroid nodule being malignant in an adult versus adolescent?

False: There is a greater chance of a nodule being malignant in an adolescent than in an adult

254

Is watchful waiting of a thyroid nodule an option in an adolescent?

No...even though this is an accepted practice in adults

255

What is the diagnostic test of choice for a thyroid nodule?

Fine needle aspiration... this can identify virtually all thyroid malignancies

256

When can a thyroid nodule be considered lower risk and be evaluated initially by an US?

Nodule measuring less than 1cm. with a defined border, and is soft and mobile

257

What is a risk factor for thyroid malignancy?

Past history of exposure to "ionizing radiation"

258

True or False: Exposure to "ultraviolet radiation" is a risk factor for thyroid malignancy?

False

259

When do you use a 131-iodine thyroid scan?

You don't...it is no longer felt to be useful and will be the wrong answer even though it was once used to distinguish hot from cold nodules

260

Name 5 situations in which you can diagnose diabetes

1. HbA1C equal to to greater than 6.5%
2. 2 Random glucose values over 200
3. 1 Random glucose value over 200 with classic symptoms of hyperglycemia
4. Fasting glucose over 126
5. 2 Hour post glucose tolerance serum glucose over 200

261

What is type 1 DM due to?

Islet cell destruction resulting in the inability to produce insulin

262

What is Type 1 DM also known as?

Insulin dependent diabetes

263

How does Type 1 DM present?

Classic polyuria, polydipsia, increased appetite, and weight loss

264

What is treatment for Type 1 DM?

Short and long acting SQ insulin...insulin pumps are also used with a baseline rate and manual override for bolus doses for meals

265

When is an eye exam indicated for health maintenance in type 1 DM?

Older than age 10

266

When do you begin monitoring lipid levels in a type 1 DM?

Starting at age 12

267

What is a crucial component of effective treatment of type 1 DM?

Family education regarding disease management

268

Patients with type 1 DM are at an increased risk for what types of diseases?

Other autoimmune diseases

269

Which GI condition do Type 1 DM have an increased risk for...especially in those who have onset of DM before age 10?

Celiac disease

270

DKA is present if what 2 conditions are met?

1. Blood glucose level greater than 200mg/dL
2. Venous pH less than 7.30 or a bicarb level less than 15mmol/L

271

True or False: DKA may be seen in type 1 or type 2 DM?

True

272

What are the top 2 triggers for DKA?

1. Poor compliance
2. Intercurrent illness

273

Why is there a gradual reduction in the amount of insulin needed soon after the diagnosis of type 1 DM?

The last drops of insulin are being squeezed from the islet cells...this doesn't mean the diagnosis is incorrect...this is the honeymoon phase

274

What is the best way to check long term compliance in a diabetic?

Glycosylated hemoglobin test (hemoglobin A1C)

275

What is the hemoglobin A1C a reflection of?

Glucose levels over the past 3 months

276

Describe the progression of DKA.

1. Initially develop polyuria, polydipsia, polyphagia, and weight loss
2. This worsens until they develop nausea, emesis, and abdominal pain
3. This leads to metabolic acidosis
4. To compensate for the acidosis, they develop hyperpnea (Kussmaul respirations)
5. May progress to drowsiness and coma

277

What % dehydration should be assumed for DKA?

5-10% Dehydration

278

How is fluid replaced in DKA?

1. Rapid volume expansion with 10-20 cc/kg of normal saline or lactated ringers boluses over 1-2 hours
2. Rest of rehydration should be administered evenly over next 48 hours

279

What is the initial measured sodium in DKA?

Low

280

Why is the initial measured sodium level low in DKA?

Osmotic effects of hyperglycemia leads to increased extracellular fluids... this leads to a dilutional hyponatremia

281

How do you calculate the corrected sodium for DKA?

Corrected NA = Measured NA + 0.3 (glucose-5.5)mmol/L

282

What is a sign of severe dehydration in DKA?

If the initial sodium is high

283

How is the sodium level managed in DKA?

It should gradually come up with rehydration

284

What does it mean if the measured sodium doesn't rise as the glucose falls during DKA treatment?

It can be attributed to overzealous fluid correction and this represents an increased risk for cerebral edema

285

What should you think if you are presented with a patient with mental status changes during DKA correction?

Concern for cerebral edema due to overzealous fluid correction

286

What is wrong with potassium in DKA?

There is a K deficit, regardless of the initial value they give you

287

How much potassium can be given when the serum potassium is low at presentation of DKA and under what circumstances?

Up to 60mEq K/L
Provided urine output is established

288

True or False: The dilutional hyponatremia seen in DKA is not the same as pseudohyponatremia seen in other conditions?

True

289

Describe what is causing the dilutional hyponatremia seen in DKA.

1. The hyperglycemia draws water into the intravascular compartment through osmotic pressure
2. The increased water results in the dilutional hyponatremia seen in DKA
3. Sodium levels don't go down and as hyperglycemia is corrected and hyponatremia should resolve accordingly

290

Why do potassium levels fall in DKA?

Variety of reasons, mainly having to do with correction of acidosis

Less K comes out of IC fluid into the EC fluid
More K is lost in urine with correction

291

When do you add insulin to the IV fluids when treating DKA?

After the initial 1-2 hours of fluid rehydration

292

When is dextrose added to IV fluids when treating DKA?

When blood glucose drops below 300

293

When can the insulin be changed to SQ from IV when treating DKA?

Until the acidosis has resolved (pH and bicarb normalized) and the patient is well enough to tolerate oral intake

294

What is considered resolved acidosis when treating DKA?

-Blood sugar no more than 300
-pH greater than 7.3
-Bicarb greater than 15

295

What do you need to watch for with too rapid rehydration while treating DKA?

Cerebral edema

296

What is the treatment for cerebral edema caused by too rapid rehydration when treating DKA?

Same as for any case of increased ICP

297

When is bicarb given in DKA treatment?

It should not be used in DKA because its use has been associated with cerebral edema...insulin and IV fluids are the only treatments needed to correct the acidosis

298

What is type 2 DM primarily due to?

Insulin resistance

299

What is the typical presentation of type 2 DM?

Obese child, acanthosis nigricans (dark, thickened, velvety patches of skin usually in the back of the neck or in the axillae)

300

What is the initial treatment of Type 2 DM?

Non-pharmacological...improved nutrition, less eating, and more exercise

301

What is used for type 2 DM if non-pharmacological treatment doesn't work?

Metformin (oral hypoglycemic agent)

302

How can type 1 and type 2 diabetes be distinguished from each other?

1. Measure autoantibodies against pancreatic beta cells (should only be present in type 1 DM)
2. Type 1 DM tends to be thin, Type 2 DM tends to be overweight
3. Type 1 DM more likely to present with classic diabetes symptoms. Type 2 DM tend to present after puberty and are much more likely to have a 1st degree relative with DM.

303

What are the screening criteria for Type 2 DM?

Being overweight (BMI >85% PCT) plus any 2 of following
1. Family history of Type 2 DM in 1st or 2nd degree relative
2. High risk race or ethnicity (Native American, African American, Latino, Asian American/Pacific Islander)
3. Signs of insulin resistance (acanthosis nigricans, HTN, dyslipiemia, or PCOS)

304

When should testing begin for Type 2 DM?

At age 10 or sooner if puberty occurs sooner

305

What is the preferred screening test for Type 2 DM?

Fasting plasma glucose

306

True or False: Type 2 diabetics who are insulin resistant with high glucose may present with non-ketotic hyperosmolar diabetic coma?

True

307

What presents with an elevated serum osmolality and serum glucose?

Hyperosmolar non-ketotic coma

308

What is the goal of treatment for hyperosmolar non-ketotic coma?

Same as DKA...make patient euvolemic and euglycemic without throwing them into cerebral edema

309

Over how many hours should fluid replacement occur for treatment of hyperosmolar non-ketotic coma?

36-48 hours (similar to managing hypernatremic dehydraion)

310

What is metabolic syndrome?

A series of clinical and laboratory findings that are felt to be the result of insulin resistance

311

What are 4 parts to the current definition of metabolic syndrome?

1. Hyperinsulinemia or insulin resistance
2. Dyslipidemia
3. HTN
4. Obesity (particularly central adiposity)

312

What is the management of metabolic syndrome?

Primarily weight loss and adoption of healthy lifestyle including regular exercise

313

True or False: There are no current recommendations for the use of metformin in treating metabolic syndrome?

True

314

What is hypercalcemia?

Serum calcium greater than 11mg/dL

315

What should you think if they present a patient with prolonged immobilization?

Elevated calcium

316

What are symptoms of hypercalcemia?

Constipation, fatigue, depression, muscle weakness, changes in sensorium (including coma)

317

Memory aid for causes of hypercalcemia?

A wishbone is made of calcium:
W: Williams Syndrome
I: Ingestion (Vitamin D/A intoxication, Thiazide diuretics)
S: Skeletal disorders (Dysplasias and Immobilization/Body Casts)
H: Hyperparathyroidism

318

How is hypercalcemia treated?

High volume fluid, furosemide (Lasix), and EKG monitoring.. In rare cases calcitonin is used.

319

What is hypocalcemia?

Ionized calcium lower than 4.5 mg/dL (1.0 mmol/L)
Total calcium lower than 8.5 mg/dL

320

Name 4 components of a classic presentation of hypocalcemia.

1. Painful muscle spasms
2. Generalized seizures
3. Vomiting
4. Prolonged QT interval on EKG

321

What should you consider with a siezure that is resistant to diazepam?

Hypocalcemia

322

What are 2 classic signs to watch out for with hypocalcemia?

1. Chvostek
2. Trosseau

323

What electrolyte abnormality do you need to be mindful of with hypocalcemia?

Hypomagnesemia

324

What is elicited by tapping just anterior to the ear lobe below the cheek bone?

Chvostek sign

325

What is a positive finding for Chvostek sign?

Contraction of distal muscles when you tap just anterior to the ear lobe below the cheek bone

326

How is Trousseau sign elicited?

By inflating the BP cuff above systolic pressure and leaving it there for 2 minutes

327

What is a positive finding for Trousseau sign?

When you have a carpal muscle spasm on that side after inflating the BP cuff above systolic pressure and leaving it there for 2 minutes

328

Memory aid for causes of hypocalcemia?

Picture somebody getting drained of all the calcium (colored white for milk)...if you were drained of your pigmentation, you would look quite PINK

P: Pseudohypoparathyroidism
I: Intake (nutritional deficiency), Immune deficiency (DiGeorge syndrome)
N: Nephrotic syndrome (with low albumin, low calcium)
K: Kidney (renal insufficiency results in higher phosphate, lower calcium, and a secondary hyperparathyroidism)

329

What neurological problem can occur with hypocalcemia?

Seizures

330

A combination of hypocalcemia and hyperphosphatemia correlates with what?

Hypoparathyroidism

331

What does the combination of hypercalcemia and hypophosphatemia correlate with?

Hyperparathyroidism

332

What does hypocalcemia and hypophosphatemia correlate with?

Vitamin D deficiency

333

What is it when peripheral tissue is resistant to the effects of the parathyroid hormone (they just aren't listening) and PTH levels are high?

Pseudohypoparathyroidism

334

How does pseudohypoparathyroidism present?

High PTH and hypocalcemia

335

Why does pseudohypoparathyroidism occur?

Due to end organ resistance to PTH

336

How would someone with pseudohypoparathyroidism be described?

Developmentally delayed, short, and obese with moon facies and calcification of the basal ganglia

337

If you are presented with a neonate who is LGA and hypoglycemic with hypocalcemia, what should you think?

Strong probability that you are being presented with an infant of a diabetic mother, even if this isn't stated outright

338

Name 4 situations in which calcium may be needed emergently?

1. Hypocalcemia
2. Hyperkalemia
3. CCB ingestion
4. Hypermagnesemia

339

What is rickets?

The deficient mineralization of bone at the growth plate (so rickets can't occur after growth plates are closed)

340

What is it called if deficient mineralization happens at the bone matrix?

Osteomalacia

341

What does normal bone mineralization require?

Both calcium and phosphate

342

If you have an issue with calcium what type of rickets?

Calcipenic rickets

343

If you have an issue with phosphate what type of rickets?

Phosphopenic rickets

344

How do kids with rickets present?

Bone pain, anorexia, decreased growth rate, widening of the wrists and knees, delayed eruption of teeth, and bowed legs. Enlarged costochonral junctions (rachitic rosary). Softening of skull bones (craniotabes).

345

Children on what type of medications are at risk for developing rickets?

Anti-convulsant medications

346

What lab value is elevated in all forms of rickets?

Alkaline phosphatase

347

True or False: Serum calcium can be normal or low in calcipenic rickets?

True... calcipenic means not enough calcium to meet needs of growing bones

348

What are the 3 types of calcipenic rickets?

1. Vitamin D deficient rickets
2. Vitamin D dependent rickets type 1
3. Hereditary Vitamin D resistant rickets (formerly known as Vitamin D dependent rickets type 2)

349

What is always elevated in calcipenic rickets?

PTH (think of this as the bone phoning home for more calcium)

350

What 2 issues with Vitmain D can also result in calcipenic rickets?

1. Secondary defects in Vitamin D metabolism
2. Defects in Vitamin D or calcium absorption

351

What 2 other types of diseases can you see rickets in?

1. Extremely severe liver disease
2. Intestinal disorders like celiac disease

352

What is the most common type of rickets?

Vitamin D deficient (nutritional) rickets

353

Name 4 risk factors to watch out for in the presenting history that should point you toward a diagnosis of nutritional rickets

1. Breast feeding without vitamin D supplementation
2. Poor exposure to natural sunlight (pay attention if they note the baby is dark skinned)
3. Low birth weight, prematurity, or both
4. Infants on strict vegan diets which exclude dairy products (if Mom was on a nondairy diet while pregnant, infant may be born with congenital rickets)

354

How many IU of Vitamin D do infants need daily?

400IU

355

If the majority of an infants intake is breast milk, what do they need?

Vitamin D supplementation starting by 2 weeks of age (Vitamin D isn't very bioavailable in breast milk)

356

Which ethnicity of babies are at particular risk for vitamin D deficient (nutritional) rickets?

African American...lower absorption of UV light

357

What is the typical presentation of Vitamin D deficient (nutritional) rickets?

African American infant, born in fall or early winter, who is being breastfed without vitamin D supplementation

358

What dietary issue should you be mindful of Vitamin D deficient (nutritional) rickets?

Lactose intolerance...since the patient is avoiding dairy products they are vulnerable to Vitamin D deficient rickets

359

Which of the calcipenic rickets is the only one where a 25-hydroxy vitamin D level will be low?

Vitamin D deficient rickets (kind of obvious)

360

How is Vitamin D Deficient (nutritional) rickets treated?

Vitamin D and calcium supplementation

361

True or False: Serum calcium and phosphorous levels may be normal in the face of rickets?

True

362

Which lab value is always elevated in rickets?

Serum alkaline phosphatase

363

When rickets occurs with chronic liver disease what is it usually due to?

Result of reduced availability of bile salts in the gut and subsequent decreased absorption of vitamin D (not due to the lack of hydroxylation)

364

How is vitamin D dependent rickets type 1 inherited?

AR

365

What is vitamin D dependent rickets type 1 due to?

Inadequate renal production of 1,25 dihydroxy vitamin D

366

What happens to calcium and 25 hydroxy vitamin D in vitamin D dependent rickets type 1?

Serum calcium is low
25 hydroxy vitamin D is normal (liver is still doing its job)

367

What reflects the amount of vitamin D stored in the body?

25-hydroxy-vitamin D

368

What is the active metabolite of vitamin D?

1,25-dihydroxy-vitamin D

369

Which organs add the 25 and 1 to vitamin D?

25 is added by the liver
1 is added later by the kidney

370

What is seen in the head of a patient with rickets?

Crainotabes: Delayed suture and fontanel closure, skull thickening, "frontal bossing", and bad tooth enamel

371

What is seen in the extremities of a patient with rickets?

Widened physes of wrists and ankles, femoral/tibial bowing

372

What is seen in the chest of a patient with rickets?

"Pigeon chest", rachitic rosary (costcochondral joints are enlarged)...could be shown as picture

373

With what type of organ disease can you see rickets?

Liver disease

374

Memory aid to remember rachitic rosary with rickets?

Ricketic rosary

375

Vitamin D Dependent Rickets Type 1 is also known as what?

pseudo-Vitamin D-resistant rickets

376

What is the presentation of Vitamin D Dependent Rickets Type 1

Same as vitamin D deficient rickets

377

How is Vitamin D Dependent Rickets Type 1 treated?

Vitamin D2 and 1,25-dihydroxy vitamin D

378

What used to be known as vitamin D dependent rickets Type 2?

Hereditary Vitamin D Resistant Rickets

379

How is hereditary vitamin D resistant rickets inherited?

Autosomal recessive

380

What is hereditary vitamin D resistant rickets due to?

End organ resistance to vitamin D

381

What is the primary difference between Type 1 and Type 2?

Type 1: 1,25-dihydroxy vitamin D is decreased due to poor or absent production
Type 2: 1,25-dihydroxy vitamin D is elevated due to end organ resistance

382

In phosphoenic rickets, what is the problem?

Phosphate is low

383

True or False: In phosphopenic rickets, the calcium and PTH may be normal?

True

384

What is the most common form of phosphopenic rickets in children and adolescents?

Due to renal phosphate wasting

385

What is the problem in X-linked hypophosphatemic rickets?

Excessive phosphate loss through the kidneys

386

How is X-linked hypophosphatemic rickets inherited?

X-linked dominant

387

What is the most common cause of rickets in industrialized countries?

X-linked hypophosphatemic rickets

388

How is X-linked hypophosphatemic rickets treated?

With phosphate supplementation...in addition, 1,25-dihydroxy vitamin D is needed

389

What is the
1. Underlying cause
2. Phosphate
3. Calcium
4. Alkaline phos
5. PTH
6. 25-Vitamin D
7. 1,25 Vitamin D
in Vitamin D deficient rickets?

1. Nutritional deficit OR poor UV light exposure
2. Low or normal
3. Low or normal
4. High
5. High
6. Low
7. Normal

390

What is the
1. Underlying cause
2. Phosphate
3. Calcium
4. Alkaline phos
5. PTH
6. 25-Vitamin D
7. 1,25 Vitamin D
in Vitamin D dependent type 1 rickets?

1. 1-alpha hydroxylase deficiency
2. Low or normal
3. Low
4. High
5. High
6. Normal
7. Low

391

What is the
1. Underlying cause
2. Phosphate
3. Calcium
4. Alkaline phos
5. PTH
6. 25-Vitamin D
7. 1,25 Vitamin D
in Hereditary Vitamin D resistant rickets?

1. End organ resistance
2. Low or normal
3. Low
4. High
5. High
6. Normal
7. Very high

392

What is the
1. Underlying cause
2. Phosphate
3. Calcium
4. Alkaline phos
5. PTH
6. 25-Vitamin D
7. 1,25 Vitamin D
in X-linked hypophosphatemic rickets?

1. Defect in tubular reabsorption of phosphate
2. Very low
3. Normal
4. High
5. Normal
6. Normal
7. Normal

393

What is the
1. Underlying cause
2. Phosphate
3. Calcium
4. Alkaline phos
5. PTH
6. 25-Vitamin D
7. 1,25 Vitamin D
in renal disease rickets?

1. Defect in phosphate excretion
2. High
3. Decrease
4. High
5. High
6. Low
7. Low