Endo, Misc + CDB Flashcards
1
Q
Syndrome characterized by disturbance of metabolism of carbohydrate, protein, and fat, resulting from deficiency in insulin secretion or its action
A
DIABETES
2
Q
Most common endocrine disorder of the pediatric age group
A
Diabetes
3
Q
HLA-DR3 and -DR4 (chromosome 6)
A
Insulin dependent DM
4
Q
Type I vs Type II DM: Ketosis common
A
Type I
5
Q
Type I vs Type II DM: Hyperosmolar coma
A
Type II
6
Q
Type I vs Type II DM: Impaired glucose tolerance
A
Type II
7
Q
Diagnosis of DM in children
A
Fasting blood glucose > 126 mg/dL Random blood glucose > 200 mg/dL
8
Q
Primary ETIOLOGY of HYPERPITUITARISM
A
Pituitary Adenoma Growth hormone (GH)-secreting adenoma Prolactin-secreting adenoma
9
Q
Secondary ETIOLOGY of HYPERPITUITARISM
A
Primary hypogonadism Primary hypoadrenalism Primary hypothyroidism
10
Q
Deficiency of more than one pituitary hormone or growth hormone alone
A
HYPOPITUITARISM
11
Q
PANHYPOPITUITARISM in neonates
A
Hypoglycemia and a micropenis
12
Q
Craniopharyngioma, hyper vs hypopituitarism
A
HYPOPITUITARISM
13
Q
Insulin counter-regulatory hormones
A
GH and cortisol
14
Q
Poor linear growth, hypoglycemia
A
GH deficiency
15
Q
HYPOPITUITARISM: LH and FSH deficiency manifests as
A
pubertal delay
16
Q
HYPOPITUITARISM: Treatment
A
Hormonal replacement
17
Q
Prolactin secretion is tonically inhibited by
A
Dopamine
18
Q
Headache Amenorrhea Galactorrhea
A
Prolactinoma
19
Q
DI: Acquired, any age
A
Central
20
Q
DI: X-linked recessive, males—early infancy
A
Nephrogenic
21
Q
Toxins that cause nephrogenic DI
A
Lithium, demeclocycline
22
Q
Tumors that can cause central DI
A
Suprasellar tumors (craniopharyngioma)
23
Q
Central vs nephrogenic DI: Polyuria
A
Both
24
Q
Central vs nephrogenic DI: Excessive thirst, enuresis
A
Central
25
Central vs nephrogenic DI: Polyuria, failure to thrive (FTT), hyperpyrexia, vomiting, hypernatremic dehydration
Nephrogenic
26
High urine output despite significant dehydration
DI
27
Increased serum osmolality (N less than 290 mOsm/L) Increased serum Na (N less than 145 mmol/L) Dilute urine (N \> 150 mOsm/L)
DI
28
Treatment for central DI
Fluids, Desmopressin (DDAVP)
29
Treatment for nephrogenic DI
Fluids, Thiazide diuretic (paradoxical effect)
30
Endocrinologic abnormality seen that may be seen with Positive pressure ventilation Rocky Mountain spotted fever Pneumonia
SIADH
31
SIADH is asymptomatic until Na \_\_\_
Less than 100
32
Urine osmolality ___ excludes diagnosis of SIADH
Less than 100 mOsm/kg
33
T/F SIADH presents with edema
F
34
SIADH: Hyponatremia vs hypernatremia
Hyponatremia
35
SIADH: Urina Na increased vs decreased
Increased
36
Treatment for SIADH if symptomatic
Hypertonic (3%) saline
37
Treatment for SIADH if asymptomatic
Fluid restriction
38
NORMAL FEMALE PUBERTAL PROGRESSION
Thelarche → height growth spurt → pubic hair → menarche (13 years)
39
NORMAL MALE PUBERTAL PROGRESSION
Testicular enlargement → penile enlargement → height growth spurt (14 years) → pubic hair
40
T/F Increase in height velocity in boys occurs at a later chronologic age than in girls
T
41
Most normal \_\_\_-year-old girls have pubic hair
11
42
Precocious Puberty: Referred to as premature pubic hair development
Adrenarche
43
Precocious Puberty etiology, male and female
Premature activation of the hypothalamic–pituitary–gonadal axis (Gonadotropin dependent—increased FSH and LH OR Gonadotropin independent—excess sex steroids (decreased FSH and LH))
44
Precocious Puberty etiology, male
1) Gonadotropin from brain tumor (Bilateral testicular enlargement) 2) Gonadal tumor—testicular Leydig cell tumor (Unilateral testicular enlargement) 3) Adrenal CAH (prepubertal testes)
45
T/F Precocious puberty in girls is usually idiopathic, while in boys it usually has an organic cause
T
46
Tanner stages, breast
47
Tanner stages, male genital
48
Tanner stages, female and male pubic hair
49
Precocious Puberty etiology, female
1) McCune Albright syndrome (CAH or ovarian granulosa cell tumor) 2) Exogenous sex steroids
50
Normal growth rate and bone age Prepubertal level of gonadotropins and estrogen Isolated breast development
Premature Thelarche
51
Androgen normal for pubertal stage but elevated for chronologic age. Adrenal tumor needs to be excluded.
Premature adrenarche (early appearance of sexual hair without other signs of sexual development)
52
Delayed Puberty is defined as absence of pubertal development by ___ in girls and ___ in boys
13 years; 14 years
53
Delayed Puberty is more common in, males vs females
Males
54
Causes of delayed puberty in females
Constitutional Primary ovarian failure Turner’s syndrome Hypogonadotropic hypogonadism Kallmann’s syndrome Hypopituitarism Prader–Willi syndrome
55
Causes of delayed puberty in males
Same as female but Turner not applicable + Klinefelter’s syndrome
56
X-linked hypogonadotropic hypogonadism affecting males and females, associated with anosmia, cleft lip/palate, and other midline defects
Kallman syndrome
57
Pseudohermaphrotidism in females
CAH
58
Enzyme deficient in CAH
21-hydroxylase
59
Normal gonads and uterus (both gonads are ovaries) with virilization of exter- nal genitalia in a patient with a 46,XX karyotype
CAH
60
Signs and symptoms of CAH
Ambiguous genitalia Virilization of external genitalia Clitoral hypertrophy Labioscrotal fusion
61
46,XY male Normal testes (both gonads are testes) Undervirilization of external genitalia
Pseudohermaphrotidism in males
62
Etiology of pseudohermaphrotidism in males
Androgen insensitivity Enzyme defects in testosterone synthesis
63
SIGNS AND SYMPTOMS of pseudohermaphrotidism in males
Small phallus Hypospadias Undescended testes
64
MCC of tall stature
Familial
65
Syndromes associated with tall stature
1) Marfan 2) Homocystinuria 3) Klinefelter 4) Sotos (cerebral gigantism)
66
Short stature is defined as
Height below 5th percentile or more than 2 SD below normal mean for age and gender
67
Normally, stature is characterized by
Chronological age = Bone age = Height age
68
Normal growth rate
5cm/year
69
MCC of short stature
Familial (at least 1 parent has short stature)/constitutional/normal variants (at least 1 parent has short stature)
70
In CONSTITUTIONAL short stature, height is normal at birth, then decelerate between
6 mos and 1 year old
71
In CONSTITUTIONAL short stature, normal growth rate is resumed by
2-3 y/o
72
Familial vs constitutional short stature: Normal bone age, Puberty at average age
Familial
73
Familial vs constitutional short stature: Delayed puberty, Delayed bone age (bone age = height age)
Constitutional
74
Children with this type of short stature are the so-called “late-bloomers.”
Constitutional
75
NUTRITIONAL causes of short stature
Irritable bowel disease Celiac disease Anemia
76
Endocrine causes of short stature
GROWTH HORMONE DEFICIENCY, HYPOTHYROIDISM, PITUITARY, CUSHING’S SYNDROME
77
Children with psychosocial deprivation clinically resemble children with ___ with retardation of bone age and similar findings on ___ testing
GH deficiency; GH stimulation
78
T/F In PSYCHOSOCIAL DEPRIVATION, testing and growth revert to normal when the child is removed from the deprived environment
T
79
GH therapy increases the risk of what CA
Leukemia
80
Pathologic causes of short stature
GROWTH HORMONE DEFICIENCY, HYPOTHYROIDISM, CUSHING’S SYNDROME
81
Substances that may be used for GH stimulation test
Insulin, Arginine, GHRH
82
Result of GH stimulation test in GROWTH HORMONE DEFICIENCY
Inadequate respons
83
GROWTH HORMONE DEFICIENCY Treatment
Biosynthetic human GH
84
What inhibits growth in CUSHING’S SYNDROME
Cortisol
85
CHROMOSOMAL DISORDERS that cause short stature
Turner’s syndrome/Noonan syndrome Down’s syndrome Silver–Russell syndrome
86
Genotype of Noonan
46,XX or 46,XY
87
Chromosome affected in Noonan
12
88
EPIDEMIOLOGY of Noonan, gender
Males = Females
89
T/F Patients with Noonan’s syndrome have a normal karyotype
T
90
Distinguishing features of Noonan
Cardiac—often pulmonary stenosis Pectus carinatum/excavatum Short webbed neck Prominent pads of digits
91
A slow growth rate regardless of stature
Growth failure
92
Short stature that requires diagnostic evaluation
Height 3.5 SDs below the mean; Height velocity below the 5th percentile for age; Height below the target height corrected for mid-parental height
93
Most important factor affecting growth on a worldwide basis
Nutrition
94
Increasing secretion of gonadal sex steroids as a result of the maturation of the hypothalamic-pituitary-gonadal axis
Gonadarche
95
Crucial to prevent or minimize cognitive impairment in congenital hypothyroidism
Early diagnosis
96
Classic findings of congenital hypothyroidism are rare in the early neonatal period due to
Placental transfer of maternal thyroid hormone (T4)
97
ETIOLOGY of Congenital Hypothyroidism
Hereditary Prenatal exposure to radioiodine or antithyroid medications
98
Most common cause of congenital hypothyroidism in the US
Thyroid dysgenesis
99
Most frequent form of thyroid dysgenesis
Ectopic thyroid
100
\_\_\_ of thyroid dysgenesis present with aplasia
1/3
101
\_\_\_ of thyroid disease present with ectopic thyroid tissue (lingual) or hypolastic
2/3
102
Antibody seen in maternal autoimmune thyroid diseases like Hashimoto thyroiditis
Thyrotropin receptor-blocking antibody
103
Congenital hypothyroidism: F:M ratio
2:1
104
DOC for congenital hypothyroidism
L-thyroxine
105
Low serum total T4 concentration, normal TSH, and normal serum free T4; euthyroid condition, does not require treatment
Congenital thyroxine-binding globulin deficiency
106
Most thyroid-dependent brain maturation occurs
2-3 years after birth
107
Treatment of congenital hypothyroidism with L-thyroxine provides excellent prognosis for normal intellectual development when initiated within \_\_\_
1 month or less after birth
108
Earliest sign of congenital hypothyroidism
Prolonged jaundice (due to delayed maturation of glucuronide conjugation)
109
MCC of congenital hypothyroidism worldwide
Iodine deficiency or endemic goiter
110
Major complication can result from congenital hypothyroidism
Cretinism: severe stunted mental & physical growth
111
Anemia seen in congenital hypothyroidism
Macrocytic anemia refractory to hematinics
112
MCC of thyroid disease in children
Thyroiditis
113
MCC of acquired hypothyroidism
Lymphocytic autoimmune thyroiditis (Hashimoto)
114
Predisposed to development of autoimmune thyroiditis
Trisomy 21 (Down), Turner
115
Prenatal screening for hypothyroidism in fetus
Triple screen test aka Kettering/Bart's test (2nd trimester; test for chromosomal abnormalities and NTDs; hormones tested are AFP, estriol, and beta HCG)
116
Postnatal diagnosis of Hashimoto
1) Serum antithyroid peroxidase (antimicrosomal ab) 2) Antithyroglobulin antibody
117
What is the first clinical manifestation of acquired hypothyroidism
Deceleration of growth
118
Disease associated with APS-1
Hypothyroidism [HAM syndrome: hypothyroidism, addisons disease, mucocutaneous candidiasis]
119
MEN type IIB or mucosal neuroma syndrome is associated with what disease
Pheochromocytoma, medullary thyroid carcinoma
120
NBS is stipulated under
RA 9288
121
NBS should be done at
48 hours of life (if less than 24 hours, repeat at 2 weeks)
122
Tests included in NBS
1) Congenital hypothyroidism 2) Congenital adrenal hyperplasia (CAH) 3) Galactosemia 4) G6PD deficiency 5) PKU
123
Catecholamine-secreting (functional) adrenomedullary tumor of chromaffin tissue
PHEOCHROMOCYTOMA
124
Location of tumor of chromaffin tissue
Adrenal medulla (70%) Extra-adrenal (30%)
125
T/F PHEOCHROMOCYTOMA is usually benign, well encapsulated
T
126
Chromaffin tissue tumors rising in the adrenal medulla produce
Both epinephrine and norepinephrine
127
Chromaffin tissue tumours that are extra-adrenal produce
Only norepinephrine
128
PHEOCHROMOCYTOMA may be seen in what endocrinologic syndromes
MEN II (bilateral), von Hippel–Lindau, neurofibro- matosis type I
129
PHEOCHROMOCYTOMA diagnosis
Increased urinary catecholamines or metabolites Metanephrine Normetanephrine Vanillylmandelic acid (VMA)
130
PHEOCHROMOCYTOMA treatment
Medical (alpha antagonists, eg phenoxybenzamine) OR surgical excision
131
PHEOCHROMOCYTOMA rule
Rule of 10 10% malignant 10% bilateral 10% in children 10% familial 10% extra-adrenal
132
Hormone deficiencies in CAH
21-hydroxylase deficiency (90%) 11 β-hydroxylase deficiency 3 β-hydroxysteroid dehydrogenase
133
Combination of hyperkalemia and hyponatremia in newborn is a clue to diagnosis of
CAH
134
Most urgent tests for congenital adrenal hyperplasia
1. Serum glucose (hypoglycemia) 2. Serum electrolytes
135
Hormone detected to diagnose CAH
17 hydroxylase (elevated)
136
In DM presence of __ in position 57 of HLA DQ B-chain protect against autoimmune DM and there is 100 fold risk of having DM if this is absent
Aspartic acid
137
Only ___ viral infection is associated with DM in later life
Congenital rubella
138
Insulin resistance is a function of
Fat mass
139
Seen in 50% adolescent boy ~14 yo; usually asymmetrical, tender, regresses in 6-18 months; ass w/ inc adrenal androgens, more can convert to estradiol
Pubertal gynecomastia
140
thyroglobulin synthesis is seen in what wk in the fetal development
4 th week
141
what is the recommended dietary allowance of iodine in infants
30 ug/kg/day
142
what is the recommended daily allowance of iodine of children
90-120 ugkgday
143
what is the recommended dietary allowance of iodine in adolescent and adults
150 ugkgday
144
what is the active center of the iodothyronine deiodinase
selenocysteine
145
how many percent of T4 is free and how many T3
free t4 is 0.03 and t3 is 0.3%
146
what is the characteristic finding in thyroid peroxidase defect and coupling
marked decrease in thyroid radioactivity
147
there is goiter, inc tsh, low T4 and thyroidglobulin. what defect?
defect in TG synthesis
148
ADHD is associated with thyroid disease
thyroid hormone unresponsiveness
149
muscular pseudo hypertrophy of the calf muscles that is rarely seen in congenital hypothyroidism
kocher- debre-semelaigne syndrome
150
over treatment of congenital hypothyroidism may increase the risk of
Craniosynostosis; temperament problems; pseudotumor cerebri
151
what is the most common cause of congenital thyroidism with or without goiter and most common cause of thyroid disease ( simple goiter)
lymphocytic thyroiditis ( hashimotos thyroididtis)
152
what are the most common clinical manifestation of lymphocytic thyroiditis
goiter and growth retardation
153
APS-1 causes HAM syndrome. what is the triad
Hypothyroidism; addisons disease; mucocutaneous candidiasis
154
APS-2 is called ___ syndrome
shmidt
155
pernacious anemia,vitiligo, alopecia; what thyroid disease
lymphocytic thyroiditis
156
what organisim is the most common cause of acute suppurative thyroiditis
strep viridans; followed by s aureus and pnumococcus
157
de quervain disease is also called ___ is rare in children manifesting as URTI tenderness over the thyroid
subacute granulomatous thyroiditis
158
type of endemic cretinism with delayed growth and sexual development; myxedema; absence of goiter
myxedematous syndrome
159
toxic multinodular goiter is seen in what syndrome
McCune-Albright
160
treatment of graves disease
methimazole 0.25mgkgday ; PTU 5-10 mgkgday
161
it is the most effective and curative treatment for hyperthyroidism especially for toxic nodules and multinodualr goiter
radioactive iodine
162
it is caused by transplacental passage of TRSAb, affects boy more than girls and has elevated t4 and suppressed TSH
congenital hyperthyroidism
163
most common type of thyroid carcinoma
Papillary; followed by follicular then meduallary
164
where is the most common metastasis of thyroid ca
lungs
165
solitary thyroid nodule producing hyperthyroidism
plummer disease
166
it is the late manifestation of MEN II
hypercalcemia ( indicating hyperparathyroidism)
167
in DKA what fluid do you give in the 1st hr
10-20ml/kg of 0.9 NACl or LR and start insulin at 0.05 -1 u/kg/hr
168
in dka what is the management for the 2nd hr until resolution
0.45 nacl and continue insulin drip plus 20meq/L of Kcl
169
in DKA , start D5 containing fluid when the blood glucose is \_\_-
less than 250 mg/dL or 14 mmol
170
it is characterized as severe hyperglycemia (blood glucose of \>800 mg/dL; absence of ketosis severe dehydration; neurologic signs; frank coma; hemoconcentration
non ketotic hyperosmolar coma
171
Most common form of male pseudohermaphroditism
Testicular feminization (also referred to as androgen insensitivity syndrome)
172
Patients have ambiguous genitalia until puberty; then, at puberty, increased levels of testosterone cause masculinization of the genitalia.
Male pseudohermaphroditism due to 5 alpha-reductase deficiency; 5α-reductase is normally required for conversion of testosterone to dihydrotestosterone
