Endocrinology Flashcards

1
Q

sequence of male puberty

A

testicular growth, pubarche, penile growth, peak height velocity

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2
Q

testicular length that indicates start of puberty

A

> 2.5 cm

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3
Q

onset of puberty for males is usually

A

10 to 11

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4
Q

sequence of female puberty

A

breast budding, pubarche, peak height velocity, menarche

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5
Q

puberty before what age is abnormal in females

A

8

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6
Q

delayed puberty ages

A

13 girls, 14 boys

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7
Q

most common cause of delayed puberty in boys

A

constitutional delay of puberty

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8
Q

common cause of delayed puberty in girls

A

functional gonadotropin deficiency (ex: anorexia) or primary ovarian failure (ex: turners)

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9
Q

axillary hair, pubic hair, acne, body odor without breast development or growth spurt

A

premature adrenarche

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10
Q

lab findings in premature adrenarche

A

elevated DHEA and DHEA-S, low testosterone

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11
Q

premature adrenarche in girls could indicate

A

PCOS

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12
Q

premature adrenarche in overweight due to

A

insulin resistance

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13
Q

development of secondary sexual characteristics with acceleration of linear growth or advanced bone age

A

true precocious puberty (before 9 in boy, 8 in girls)

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14
Q

consequence of precocious puberty

A

short adult height

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15
Q

treatment for precocious puberty

A

usually none but can use leuprolide (GnRH agonist)

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16
Q

micropenis and hypoglycemia

A

panhypopituitarism

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17
Q

blind ending vagina without a uterus

A

androgen insensitivity

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18
Q

mullerian inhibiting factor

A

stops uterus and ovaries from developing in males

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19
Q

most common cause of adrenal insufficiency in infants

A

congenital adrenal hyperplasia

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20
Q

excessive scrotal pigmentation in males

A

congenital adrenal hyperplasia

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21
Q

rugged labia and shock like picture

A

congenital adrenal hyperplasia

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22
Q

deficiency in CAH

A

21-hydroxylase

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23
Q

levels that are high in CAH

A

17-hydroxyprogesterone

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24
Q

newborn screening for CAH

A

17-hydroxyprogesterone

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25
Q

next step if 17-hydroxyprogesterone is elevated on newborn screen

A

repeat it, if still positive then measure electrolytes and urine Na, urine K+

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26
Q

CAH treatment

A

hydrocortisone (high doses = mineralocorticoid and glucocorticoid effects)

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27
Q

lab findings in adrenal crisis

A

hypoglycemia, hyponatremia and hyperkalemia

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28
Q

adrenal crisis treatment

A

20/Kg D5NS over one hour then IV hydrocortisone. replace glucocorticoid once crisis is treated

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29
Q

adrenal insufficiency may have what lab value elevated

A

ADH

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30
Q

hyperpigmentation in Addisons is due to

A

increased ACTH released from brain (trying to stimulate aldosterone)

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31
Q

Addison disease treatment

A

fludrocortisone for mineralocorticoid and hydrocortisone for glucocorticoid

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32
Q

ACTH levels in primary adrenal insufficiency

A

low

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33
Q

ACTH levels in secondary adrenal insufficiency

A

high

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34
Q

how to distinguish pituitary vs hypothalamus disorder w/ secondary adrenal insufficiency

A

CRH levels (high if pituitary, low if hypothalamus)

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35
Q

cosyntropin stimulation test

A

ACTH stim test - no release of cortisol if primary adrenal but will release if secondary adrenal insufficiency

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36
Q

glucocorticoid excess of any origin

A

Cushing syndrome

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37
Q

excess corticotropin from pituitary leading to excess cortisol from adrenals

A

Cushing disease

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38
Q

Cushing syndrome growth chart

A

increased BMI with growth arrest (obesity from increased caloric intake increases weight and height)

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39
Q

bone age in Cushing syndrome vs caloric intake obesity

A

delayed bone age in Cushing, advanced bone age in obesity

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40
Q

most common cause of Cushing syndrome

A

chronic use of topical, inhaled or oral corticosteroids

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41
Q

Cushing syndrome in infants is 2/2

A

mccune albright syndrome

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42
Q

gold standard testing to confirm hypercortisolism

A

24 hour urinary free cortisol excretion

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43
Q

test with greatest sensitivity for Cushing syndrome in children

A

midnight sleeping plasma cortisol level

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44
Q

Cushing syndrome with undetectable morning corticotropin levels

A

adrenal tumor

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45
Q

Cushing syndrome with elevated morning corticotropin levels

A

pituitary

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46
Q

peak growth speed

A

5 to 6 cm/year prior to puberty

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47
Q

peak growth velocity in girls

A

SMR 3, ~1.5 years before menarche

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48
Q

once girls reach menarche they are within ____ of adult height

A

7.5 cm

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49
Q

peak growth velocity in boys

A

SMR 4

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50
Q

growth hormone deficiency triad

A

micropenis, hypoglycemia and short stature

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51
Q

bone age if underweight and short

A

normal (nutritional deficiency)

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52
Q

growth delay without any other symptoms could be

A

Crohn’s (growth delay can precede GI symptoms)

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53
Q

constitutional delay is more common in

A

males

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54
Q

decreased growth rate in early teens, delayed onset puberty and bone age below chronological age

A

constitutional delay

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55
Q

best way to assess growth delay

A

compare bone age to chronological age, and look at family history

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56
Q

normal yearly growth velocity after age 2

A

5 cm/yr

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57
Q

bone age in familial short stature

A

equal to chronological age

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58
Q

short stature that is not proportionate

A

achondroplasia

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59
Q

premature puberty and growth

A

increased androgens causes premature closure of growth plates

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60
Q

hypothyroidism bone age

A

delayed

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61
Q

most important determinant of ultimate adult height in a tall kid

A

SMR

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62
Q

tall male w/ learning disabilities, small testicles and gynecomastia

A

klinefelter’s (47 XXY)

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63
Q

male with tall stature and sudden death

A

Marfan’s (aortic aneurysm)

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64
Q

tall person with larger than normal head circumference and cognitive deficits

A

Soto’s syndrome

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65
Q

tall, overweight and normal bone age

A

high caloric intake

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66
Q

constipation, hypotonia, hoarse cry, macroglossia, umbilical hernia and large anterior fontanelle

A

congenital hypothyroidism

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67
Q

most common preventable cause of intellectual disability worldwide

A

congenital hypothyroidism

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68
Q

congenital hypothyroid treatment

A

levothyroxine tablets crushes in formula, milk or water (not soy bc reduces absorption)

69
Q

total t4 is low but free t4 is normal

A

thyroxine binding globulin deficiency

70
Q

thyroxine binding globulin deficiency inheritance

A

boys (x-linked)

71
Q

diagnosis of thyroxine binding globulin deficiency

A

TBG level

72
Q

chronic lymphocytic thyroiditis aka

A

Hashimoto thyroiditis

73
Q

hashimoto thyroiditis is more common in

A

females

74
Q

most common cause of acquired childhood hypothyroidism and goiter in adolescents

A

hashimotos thyroiditis

75
Q

common findings in hashimotos thyroiditis

A

mostly asymptomatic but goiter on exam

76
Q

hashitoxicosis

A

hyperthyroid as gland is destroyed and hormone is released

77
Q

antibodies in hashimotos thyroiditis

A

anti-thyroglobulin and anti-thyroid peroxidase

78
Q

most important measurement in hashimotos thyroiditis

A

TSH (T4 can be normal in compensated hypothyroid)

79
Q

hashimotos thyroiditis treatment

A

lifelong levothyroxine

80
Q

graves disease cause

A

thyroid stimulating immunoglobulin (IgG antibody)

81
Q

weight loss, sleep disturbance, emotional lability and lid lag

A

graves disease

82
Q

graves disease treatment

A

methimazole

83
Q

methimazole MOA

A

blocks organification of iodide which decreases thyroid hormone synthesis

84
Q

PTU risk

A

liver failure

85
Q

test to distinguish Hashimoto thyroiditis from graves

A

radioactive iodine uptake (elevated in graves, normal or low is hashimotos)

86
Q

irritability, tremors and tachycardia in the immediate newborn period

A

neonatal thyrotoxicosis from maternal thyroid stimulating antibodies crossing the placenta

87
Q

lab findings in neonatal thyrotoxicosis

A

low TSH, high free T4

88
Q

treatment of neonatal thyrotoxicosis

A

methimazole until maternal antibodies are cleared

89
Q

thyroid nodule in adolescent

A

high likelihood of malignancy

90
Q

testing for thyroid nodule

A

fine needle aspiration

91
Q

diabetes diagnosis requires

A

1 of 4 criteria with hyperglycemic symptoms OR 1 of 4 criteria on 2 separate occasions without symptoms

  1. A1c >/= 6.5
  2. random glucose >/= 200
  3. fasting glucose >/= 126
  4. 2 hour GTT >/= 200
92
Q

type 1 DM 2/2

A

islet cell destruction so cannot produce insulin

93
Q

when to start monitoring lipids in T1DM

A

age 12

94
Q

increase risk of other autoimmune disease with T1DM if onset prior to

A

age 10

95
Q

DKA diagnosis

A

glucose >200 and venous pH <7.2 OR bicarb <15

96
Q

hydration status in DKA

A

assume 5 to 10% dehydrated

97
Q

Na in DKA

A

initial measurement low but bc hyperglycemia = increased ECF causing dilution hyponatremia

98
Q

initial hypernatremia in DKA indicates

A

severe dehydration

99
Q

in DKA as glucose decreases Na should

A

increase (if not then rehydrated too quickly and increased risk of cerebral edema)

100
Q

K in DKA

A

low regardless of value

101
Q

add dextrose to fluids in DKA when glucose is less than

A

300

102
Q

too rapid of rehydration in DKA could cause

A

cerebral edema

103
Q

why not bicarb in DKAq

A

risk of cerebral edema

104
Q

when to start screening for T2DM if overweight w/ risk factors

A

age 10 or sooner if puberty is sooner (fasting plasma glucose)

105
Q

cause of metabolic syndrome

A

insulin resistance

106
Q

metabolic syndrome definition

A
  1. hyperinsulinemia or insulin resistance
  2. dyslipidemia
  3. HTN
  4. obesity (central adiposity)
107
Q

hypercalcemia definition

A

> 11

108
Q

prolonged immobilization with constipation, fatigue, muscle weakness, depression

A

hypercalcemia

109
Q

hypercalcemia treatment

A

high volume fluid, furosemide and EKG monitoring (rarely calcitonin)

110
Q

hypocalcemia definition

A

ionized calcium <4.5 and total calcium <8.5

111
Q

painful muscle spasms, generalized seizures, vomiting, prolonged QT

A

hypocalcemia

112
Q

seizure resistant to diazepam and hypomagnesemia

A

hypocalcemia

113
Q

hypocalcemia and hyperphosphatemia

A

hypoparathyroid

114
Q

hypercalcemia and hypophosphatemia

A

hyperparathyroid

115
Q

high PTH and hypocalcemia

A

pseudohypoparathyroid

116
Q

deficient mineralization of bone at the growth plate

A

rickets (cannot occur if growth plates are closed)

117
Q

deficient mineralization at bone matrix

A

osteomalacia

118
Q

softening of skull bones

A

craniotabes

119
Q

serum alk phos in rickets

A

elevated in all forms

120
Q

types of calcipenic rickets

A
  1. vitamin D deficient rickets
  2. vitamin D dependent rickets
  3. hereditary vitamin D resistant rickets
121
Q

PTH in calcipenic rickets

A

high

122
Q

most common type of rickets

A

nutritional (vitamin D deficient rickets)

123
Q

rickets with low 25-hydroxy vitamin D level

A

nutritional (vitamin D deficient rickets)

124
Q

rickets 2/2 chronic liver disease MOA

A

reduced availability of bile salts in the gut causing decreased absorption of vitamin D

125
Q

vitamin D dependent MOA

A

1-alpha hydroxylase deficiency causing inadequate renal production of 1,25 dihydroxy vitamin D

126
Q

vitamin D deficient rickets treatment

A

calcium and vitamin D

127
Q

vitamin D dependent rickets treatment

A

vitamin D2 and 1,25-dihydroxy vitamin D

128
Q

most common cause of phosphopenic rickets

A

renal phosphate wasting

129
Q

absence of optic chasm, optic nerve hypoplasia, agenesis of corpus callosum and hypothalamic insufficiency is what syndrome

A

septa-optic dysplasia aka mossier syndrome

130
Q

most likely deficiency in 5 yr old w. solitary central incisor

A

growth hormone deficiency (mid facial anomaly)

131
Q

4% chance of what with cleft lip or palate

A

growth hormone deficiency

132
Q

tumor that destroys pituitary stalk

A

craniopharyngioma

133
Q

most likely diagnosis in 1 week old with normal height and weight but micropenis

A

growth hormone deficiency

134
Q

drug known to induce DI

A

lithium

135
Q

child that grows rapidly over first 5 years but then normal rate, clumsy with big feet and hands, bone age slightly advanced

A

sotos syndrome

136
Q

most likely diagnosis in 18 yr old female with headache, amenorrhea and galactorrhea

A

prolactinoma

137
Q

screening in beckwith-wiedemann

A

abdominal US and alpha-fetoprotein every 3 months until 4, then renal US every 3 months from 4 to 7 years

138
Q

responsible for onset of puberty

A

hypothalamic pulsatile secretion of gonadotropin-releasing hormone (GnRH) to regular production of LH and FSH

139
Q

most common brain lesion to cause central precocious puberty

A

hypothalamic hamartoma

140
Q

diagnosis of 4 yr old w/ vaginal bleeding, large cafe au lait spots and fibrous dysplasia on xray

A

mccune albright

141
Q

OCPs and T4

A

high total T4 but normal free T4 and TSH (increased estrogen levels = increased thyroxine binding globulin)

142
Q

most common cause go congenital hypothyroidism

A

thyroid dysgenesis

143
Q

syndrome with T1DM, autoimmune thyroiditis and adrenal cortical insufficiency

A

schmidt syndrome (autoimmune polyglandular syndrome type 2)

144
Q

increased pigmentation in Addisons disease is 2/2 increased

A

proopiomelanocortin (POMC)

145
Q

diagnosis of 17 year old with anorexia, fatigue, salt craving, nausea and vomiting, increased pigmentation

A

addison’s disease

146
Q

fatty acid levels that are elevated in adrenoleukodystrophy

A

very long chain fatty acids (lack of breakdown in peroxisomes)

147
Q

most common cause of CAH

A

21-hydroxylase deficiency

148
Q

diagnosis of newborn with virilization and HTN

A

11B-hydroxylase deficiency

149
Q

diagnosis with Cushing syndrome, blue nevi, cardiac and skin myxomas and sexual precocity

A

carney complex

150
Q

screening tests for Cushing syndrome

A

24 hr urinary free cortisol, midnight salivary cortisol, dexamethasone suppression test

151
Q

diagnosis with HTN , hypokalemia and suppressed plasma renin levels

A

primary hyperaldosteronism

152
Q

diagnosis in infant with hyperaldosteronism, increased renin secretion, no HTN, increased calcium excretion in urine

A

Bartter syndrome

153
Q

syndrome with HTN, hypokalemia, low renin, low aldosterone and family history

A

liddle syndrome

154
Q

liddle syndrome MOA

A

dysregulation of epithelial sodium channel (ENaC) causing high number of channel in the collecting duct leading to hyepraldosterone effect

155
Q

klinefelters = increased risk for what cancer

A

breast cancer

156
Q

diagnosis with anosmia and hypogonadism

A

kallmann syndrome

157
Q

prader willi chromosome deletion

A

q11-13 region of chromosome 15 deletion (missing fathers)

158
Q

Turner syndrome most common cardiac abnormality

A

nonstenotic bicuspid aortic valve

159
Q

most frequent X chromosome abnormality in girls

A

triple X (47, XXX)

160
Q

most common effect on newborn w. mom exposed to androgens after 13th week gestation

A

clitoral enlargement and labial fusion

161
Q

gene on Y chromosome needed for male phenotype to occur

A

SRY gene

162
Q

syndrome with 46, XY npehropathy w/ renal failure usually by age 3, ambiguous genitalia and total deficiency of testicular function

A

Denys-Drash syndrome

163
Q

syndrome with vagina, uterus and Fallopian tubes but no breasts or menstration, gonads are undifferentiated streams XY chromosome

A

Swyer syndrome (XY pure gonadal dysgenesis)

164
Q

syndrome with microcephaly, ptosis, syndactyly, intellectual disability and pyloric stenosis

A

smith-lemli-opitz syndrome

165
Q

urine testing in T1DM

A

yearly urine micro albumin starting 5 years after diagnosis

166
Q

syndrome with IUGR, fasting hypoglycemia, postprandial hyperglycemia, insulin 100x normal, acanthuses nigricans, death during first year

A

Donohue syndrome

167
Q

syndrome with retinitis pigmentosa, obesity, intellectual disability, polydactyly, genital hypoplasia with hypogonadism

A

Laurence-moon and bardet-biedl syndromes

168
Q

name for high morning blood sugars

A

dawn phenomenon