Endocrinology Flashcards
1
Q
sequence of male puberty
A
testicular growth, pubarche, penile growth, peak height velocity
2
Q
testicular length that indicates start of puberty
A
> 2.5 cm
3
Q
onset of puberty for males is usually
A
10 to 11
4
Q
sequence of female puberty
A
breast budding, pubarche, peak height velocity, menarche
5
Q
puberty before what age is abnormal in females
A
8
6
Q
delayed puberty ages
A
13 girls, 14 boys
7
Q
most common cause of delayed puberty in boys
A
constitutional delay of puberty
8
Q
common cause of delayed puberty in girls
A
functional gonadotropin deficiency (ex: anorexia) or primary ovarian failure (ex: turners)
9
Q
axillary hair, pubic hair, acne, body odor without breast development or growth spurt
A
premature adrenarche
10
Q
lab findings in premature adrenarche
A
elevated DHEA and DHEA-S, low testosterone
11
Q
premature adrenarche in girls could indicate
A
PCOS
12
Q
premature adrenarche in overweight due to
A
insulin resistance
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)
14
Q
consequence of precocious puberty
A
short adult height
15
Q
treatment for precocious puberty
A
usually none but can use leuprolide (GnRH agonist)
16
Q
micropenis and hypoglycemia
A
panhypopituitarism
17
Q
blind ending vagina without a uterus
A
androgen insensitivity
18
Q
mullerian inhibiting factor
A
stops uterus and ovaries from developing in males
19
Q
most common cause of adrenal insufficiency in infants
A
congenital adrenal hyperplasia
20
Q
excessive scrotal pigmentation in males
A
congenital adrenal hyperplasia
21
Q
rugged labia and shock like picture
A
congenital adrenal hyperplasia
22
Q
deficiency in CAH
A
21-hydroxylase
23
Q
levels that are high in CAH
A
17-hydroxyprogesterone
24
Q
newborn screening for CAH
A
17-hydroxyprogesterone
25
next step if 17-hydroxyprogesterone is elevated on newborn screen
repeat it, if still positive then measure electrolytes and urine Na, urine K+
26
CAH treatment
hydrocortisone (high doses = mineralocorticoid and glucocorticoid effects)
27
lab findings in adrenal crisis
hypoglycemia, hyponatremia and hyperkalemia
28
adrenal crisis treatment
20/Kg D5NS over one hour then IV hydrocortisone. replace glucocorticoid once crisis is treated
29
adrenal insufficiency may have what lab value elevated
ADH
30
hyperpigmentation in Addisons is due to
increased ACTH released from brain (trying to stimulate aldosterone)
31
Addison disease treatment
fludrocortisone for mineralocorticoid and hydrocortisone for glucocorticoid
32
ACTH levels in primary adrenal insufficiency
low
33
ACTH levels in secondary adrenal insufficiency
high
34
how to distinguish pituitary vs hypothalamus disorder w/ secondary adrenal insufficiency
CRH levels (high if pituitary, low if hypothalamus)
35
cosyntropin stimulation test
ACTH stim test - no release of cortisol if primary adrenal but will release if secondary adrenal insufficiency
36
glucocorticoid excess of any origin
Cushing syndrome
37
excess corticotropin from pituitary leading to excess cortisol from adrenals
Cushing disease
38
Cushing syndrome growth chart
increased BMI with growth arrest (obesity from increased caloric intake increases weight and height)
39
bone age in Cushing syndrome vs caloric intake obesity
delayed bone age in Cushing, advanced bone age in obesity
40
most common cause of Cushing syndrome
chronic use of topical, inhaled or oral corticosteroids
41
Cushing syndrome in infants is 2/2
mccune albright syndrome
42
gold standard testing to confirm hypercortisolism
24 hour urinary free cortisol excretion
43
test with greatest sensitivity for Cushing syndrome in children
midnight sleeping plasma cortisol level
44
Cushing syndrome with undetectable morning corticotropin levels
adrenal tumor
45
Cushing syndrome with elevated morning corticotropin levels
pituitary
46
peak growth speed
5 to 6 cm/year prior to puberty
47
peak growth velocity in girls
SMR 3, ~1.5 years before menarche
48
once girls reach menarche they are within ____ of adult height
7.5 cm
49
peak growth velocity in boys
SMR 4
50
growth hormone deficiency triad
micropenis, hypoglycemia and short stature
51
bone age if underweight and short
normal (nutritional deficiency)
52
growth delay without any other symptoms could be
Crohn's (growth delay can precede GI symptoms)
53
constitutional delay is more common in
males
54
decreased growth rate in early teens, delayed onset puberty and bone age below chronological age
constitutional delay
55
best way to assess growth delay
compare bone age to chronological age, and look at family history
56
normal yearly growth velocity after age 2
5 cm/yr
57
bone age in familial short stature
equal to chronological age
58
short stature that is not proportionate
achondroplasia
59
premature puberty and growth
increased androgens causes premature closure of growth plates
60
hypothyroidism bone age
delayed
61
most important determinant of ultimate adult height in a tall kid
SMR
62
tall male w/ learning disabilities, small testicles and gynecomastia
klinefelter's (47 XXY)
63
male with tall stature and sudden death
Marfan's (aortic aneurysm)
64
tall person with larger than normal head circumference and cognitive deficits
Soto's syndrome
65
tall, overweight and normal bone age
high caloric intake
66
constipation, hypotonia, hoarse cry, macroglossia, umbilical hernia and large anterior fontanelle
congenital hypothyroidism
67
most common preventable cause of intellectual disability worldwide
congenital hypothyroidism
68
congenital hypothyroid treatment
levothyroxine tablets crushes in formula, milk or water (not soy bc reduces absorption)
69
total t4 is low but free t4 is normal
thyroxine binding globulin deficiency
70
thyroxine binding globulin deficiency inheritance
boys (x-linked)
71
diagnosis of thyroxine binding globulin deficiency
TBG level
72
chronic lymphocytic thyroiditis aka
Hashimoto thyroiditis
73
hashimoto thyroiditis is more common in
females
74
most common cause of acquired childhood hypothyroidism and goiter in adolescents
hashimotos thyroiditis
75
common findings in hashimotos thyroiditis
mostly asymptomatic but goiter on exam
76
hashitoxicosis
hyperthyroid as gland is destroyed and hormone is released
77
antibodies in hashimotos thyroiditis
anti-thyroglobulin and anti-thyroid peroxidase
78
most important measurement in hashimotos thyroiditis
TSH (T4 can be normal in compensated hypothyroid)
79
hashimotos thyroiditis treatment
lifelong levothyroxine
80
graves disease cause
thyroid stimulating immunoglobulin (IgG antibody)
81
weight loss, sleep disturbance, emotional lability and lid lag
graves disease
82
graves disease treatment
methimazole
83
methimazole MOA
blocks organification of iodide which decreases thyroid hormone synthesis
84
PTU risk
liver failure
85
test to distinguish Hashimoto thyroiditis from graves
radioactive iodine uptake (elevated in graves, normal or low is hashimotos)
86
irritability, tremors and tachycardia in the immediate newborn period
neonatal thyrotoxicosis from maternal thyroid stimulating antibodies crossing the placenta
87
lab findings in neonatal thyrotoxicosis
low TSH, high free T4
88
treatment of neonatal thyrotoxicosis
methimazole until maternal antibodies are cleared
89
thyroid nodule in adolescent
high likelihood of malignancy
90
testing for thyroid nodule
fine needle aspiration
91
diabetes diagnosis requires
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
type 1 DM 2/2
islet cell destruction so cannot produce insulin
93
when to start monitoring lipids in T1DM
age 12
94
increase risk of other autoimmune disease with T1DM if onset prior to
age 10
95
DKA diagnosis
glucose >200 and venous pH <7.2 OR bicarb <15
96
hydration status in DKA
assume 5 to 10% dehydrated
97
Na in DKA
initial measurement low but bc hyperglycemia = increased ECF causing dilution hyponatremia
98
initial hypernatremia in DKA indicates
severe dehydration
99
in DKA as glucose decreases Na should
increase (if not then rehydrated too quickly and increased risk of cerebral edema)
100
K in DKA
low regardless of value
101
add dextrose to fluids in DKA when glucose is less than
300
102
too rapid of rehydration in DKA could cause
cerebral edema
103
why not bicarb in DKAq
risk of cerebral edema
104
when to start screening for T2DM if overweight w/ risk factors
age 10 or sooner if puberty is sooner (fasting plasma glucose)
105
cause of metabolic syndrome
insulin resistance
106
metabolic syndrome definition
1. hyperinsulinemia or insulin resistance
2. dyslipidemia
3. HTN
4. obesity (central adiposity)
107
hypercalcemia definition
>11
108
prolonged immobilization with constipation, fatigue, muscle weakness, depression
hypercalcemia
109
hypercalcemia treatment
high volume fluid, furosemide and EKG monitoring (rarely calcitonin)
110
hypocalcemia definition
ionized calcium <4.5 and total calcium <8.5
111
painful muscle spasms, generalized seizures, vomiting, prolonged QT
hypocalcemia
112
seizure resistant to diazepam and hypomagnesemia
hypocalcemia
113
hypocalcemia and hyperphosphatemia
hypoparathyroid
114
hypercalcemia and hypophosphatemia
hyperparathyroid
115
high PTH and hypocalcemia
pseudohypoparathyroid
116
deficient mineralization of bone at the growth plate
rickets (cannot occur if growth plates are closed)
117
deficient mineralization at bone matrix
osteomalacia
118
softening of skull bones
craniotabes
119
serum alk phos in rickets
elevated in all forms
120
types of calcipenic rickets
1. vitamin D deficient rickets
2. vitamin D dependent rickets
3. hereditary vitamin D resistant rickets
121
PTH in calcipenic rickets
high
122
most common type of rickets
nutritional (vitamin D deficient rickets)
123
rickets with low 25-hydroxy vitamin D level
nutritional (vitamin D deficient rickets)
124
rickets 2/2 chronic liver disease MOA
reduced availability of bile salts in the gut causing decreased absorption of vitamin D
125
vitamin D dependent MOA
1-alpha hydroxylase deficiency causing inadequate renal production of 1,25 dihydroxy vitamin D
126
vitamin D deficient rickets treatment
calcium and vitamin D
127
vitamin D dependent rickets treatment
vitamin D2 and 1,25-dihydroxy vitamin D
128
most common cause of phosphopenic rickets
renal phosphate wasting
129
absence of optic chasm, optic nerve hypoplasia, agenesis of corpus callosum and hypothalamic insufficiency is what syndrome
septa-optic dysplasia aka mossier syndrome
130
most likely deficiency in 5 yr old w. solitary central incisor
growth hormone deficiency (mid facial anomaly)
131
4% chance of what with cleft lip or palate
growth hormone deficiency
132
tumor that destroys pituitary stalk
craniopharyngioma
133
most likely diagnosis in 1 week old with normal height and weight but micropenis
growth hormone deficiency
134
drug known to induce DI
lithium
135
child that grows rapidly over first 5 years but then normal rate, clumsy with big feet and hands, bone age slightly advanced
sotos syndrome
136
most likely diagnosis in 18 yr old female with headache, amenorrhea and galactorrhea
prolactinoma
137
screening in beckwith-wiedemann
abdominal US and alpha-fetoprotein every 3 months until 4, then renal US every 3 months from 4 to 7 years
138
responsible for onset of puberty
hypothalamic pulsatile secretion of gonadotropin-releasing hormone (GnRH) to regular production of LH and FSH
139
most common brain lesion to cause central precocious puberty
hypothalamic hamartoma
140
diagnosis of 4 yr old w/ vaginal bleeding, large cafe au lait spots and fibrous dysplasia on xray
mccune albright
141
OCPs and T4
high total T4 but normal free T4 and TSH (increased estrogen levels = increased thyroxine binding globulin)
142
most common cause go congenital hypothyroidism
thyroid dysgenesis
143
syndrome with T1DM, autoimmune thyroiditis and adrenal cortical insufficiency
schmidt syndrome (autoimmune polyglandular syndrome type 2)
144
increased pigmentation in Addisons disease is 2/2 increased
proopiomelanocortin (POMC)
145
diagnosis of 17 year old with anorexia, fatigue, salt craving, nausea and vomiting, increased pigmentation
addison's disease
146
fatty acid levels that are elevated in adrenoleukodystrophy
very long chain fatty acids (lack of breakdown in peroxisomes)
147
most common cause of CAH
21-hydroxylase deficiency
148
diagnosis of newborn with virilization and HTN
11B-hydroxylase deficiency
149
diagnosis with Cushing syndrome, blue nevi, cardiac and skin myxomas and sexual precocity
carney complex
150
screening tests for Cushing syndrome
24 hr urinary free cortisol, midnight salivary cortisol, dexamethasone suppression test
151
diagnosis with HTN , hypokalemia and suppressed plasma renin levels
primary hyperaldosteronism
152
diagnosis in infant with hyperaldosteronism, increased renin secretion, no HTN, increased calcium excretion in urine
Bartter syndrome
153
syndrome with HTN, hypokalemia, low renin, low aldosterone and family history
liddle syndrome
154
liddle syndrome MOA
dysregulation of epithelial sodium channel (ENaC) causing high number of channel in the collecting duct leading to hyepraldosterone effect
155
klinefelters = increased risk for what cancer
breast cancer
156
diagnosis with anosmia and hypogonadism
kallmann syndrome
157
prader willi chromosome deletion
q11-13 region of chromosome 15 deletion (missing fathers)
158
Turner syndrome most common cardiac abnormality
nonstenotic bicuspid aortic valve
159
most frequent X chromosome abnormality in girls
triple X (47, XXX)
160
most common effect on newborn w. mom exposed to androgens after 13th week gestation
clitoral enlargement and labial fusion
161
gene on Y chromosome needed for male phenotype to occur
SRY gene
162
syndrome with 46, XY npehropathy w/ renal failure usually by age 3, ambiguous genitalia and total deficiency of testicular function
Denys-Drash syndrome
163
syndrome with vagina, uterus and Fallopian tubes but no breasts or menstration, gonads are undifferentiated streams XY chromosome
Swyer syndrome (XY pure gonadal dysgenesis)
164
syndrome with microcephaly, ptosis, syndactyly, intellectual disability and pyloric stenosis
smith-lemli-opitz syndrome
165
urine testing in T1DM
yearly urine micro albumin starting 5 years after diagnosis
166
syndrome with IUGR, fasting hypoglycemia, postprandial hyperglycemia, insulin 100x normal, acanthuses nigricans, death during first year
Donohue syndrome
167
syndrome with retinitis pigmentosa, obesity, intellectual disability, polydactyly, genital hypoplasia with hypogonadism
Laurence-moon and bardet-biedl syndromes
168
name for high morning blood sugars
dawn phenomenon
