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Pediatrics > Endocrinology > Flashcards

Endocrinology Flashcards

1
Q

21 hydroxylase deficiency

A

Increased 17oh progesterone, virilized female, aldosterone deficiency salt wasting. Treat with glucocorticoids and mineralocorticoud a

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2
Q

11 hydroxylase deficiency

A

Elevated deoxycorrisol and deoxycorricosterone. Virilization of female. Elevate doc causes sodium retention. Treat with glucocorticoid

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3
Q

What should you order to work up short stature?

A

IGF1, Bone Age, karyotype in females, CMP, ESR, CBC, TSH

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4
Q

Cushings disease

A

ACTH secreting anterior pituitary tumor

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5
Q

What is the relationship between seratonin and cortisol

A

Seratonin stimulates the release of CRH

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6
Q

Relationship of dopamine and prolactin

A

Prolactin is under tonic hypothalamic inhibition by dopamine sent down the pituitary stalk. Anti-DA drugs cause increased prolactin

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7
Q

Relationship of TRH and prolactin

A

Both increased by anti DA drugs. Prolactin is also increased in hypothyroidism

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8
Q

Hall-Pallister Syndrome

A

Absence of the pituitary gland and associated with hypothalamic hamartoblastoma, polydactyly, nail dysplasia, bifid epiglottis, imporferate anus, heart, lung, kidney abnormalities.

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9
Q

Rieger Syndrome

A

Deficiency of anterior pit hormones, coloboma, glaucoma, kidney, GI, umbilical anomalies.

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10
Q

Septic optic dysplasia

A

abnormailtiy of the optic nerve, agenesis or hypoplasia of the septum pellucidum or corpus collusom, often hypothalamic insufficiency. 2/2 abnormality in transcription factor HESX1

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11
Q

What is a solitary maxillary central incisor a sign of?

A

High likelihood of GH deficiency

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12
Q

Laron syndrome

A

Normal amount of GH, but defective GH receptors. Low levels of IGF -1. Treat with IGF -1

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13
Q

Constitutional growth delay

A

A variant of normal growth. Normal growth during the first 4-12 months of life, but then growth rate slows to the height and weight are less than the 3rd percentile. By 2-3 years of age, growth resumes at >5cm/year. GH studies normal, bone age is delayed and mirrors height age instead of chronologic age. Kids usually reach normal adult height, may have delayed puberty.

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14
Q

How is genetic short stature different from constitutional growth delay?

A

Has normal bone age for chronologic age, as opposed to delayed bone age seen in constitional growth delay.

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15
Q

What three factors differentiate genetic short stature, constitutional growth delay and GH deficiency?

A

family history, growth velocity, bone age.

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16
Q

Signs of hormone deficiency

A

decrease in growth velocity, delayed bone age, maybe fam history

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17
Q

What are side offects of GH treatment?

A

SCFE, psuedotumor cerebri, transient carbohydrate intolerance, transient hypothyroidism, scoliosis

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18
Q

Mid -parental hieght calculation

A

for boys = {mom hieght + dad height + 13 cm} / 2

For girls = {mom height + dad height - 13cm} /2

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19
Q

What studies should you order if you suspect DI?

A

serum osm, UA and urine osm. ADH level. Can do a water deprivation test, or DDAVP test

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20
Q

Treatment of central DI

A

DDAVP, intranasally or orally

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21
Q

Treatment of nephrogenic DI

A

Low sodium diet to reduce obligatory water loss from kidney. Thiazides reduce urine output, indomethacin.

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22
Q

Abnormal causes of tall stature

A

Marfan, homecysteinuria, Klinefelter

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23
Q

Marfan genetics and eye findings

A

AD, upward subluxation of lens

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24
Q

Homocystinuria

A

Intellectual disability, marfanoid habitus, downward subluxation of lens

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25
Q

Sotos syndrome

A

Born above the 90th percentile and then grow rapidly in the 1st year of life to >97th percentile until age 4-5 then returns to normal. Puberty normal or a little early. Patients have big hands and feet, clumsy and un coordinated. May have intellecutal disability. GH levels are normal. Long narrow face, pointed chin.

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26
Q

Most common anterior pit tumor in adolescents

A

prolactinoma

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27
Q

Treatment for prolactinoma

A

bromocriptine (DA agonist). or surgery

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28
Q

Beckwith Wiedemann syndrome

A

Excess IGF -2 2/2 lack of demthylation at 11p15. Fetal overgrowth syndrome (including pancreas). Macroglossia, HSM, excess insulin. Increased risk of hepatoblastoma, WT

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29
Q

Screening needed in patients with Beckwith Weidemann

A

Abdominal US q3mo until 8 yrs, afp q6 weeks until age 6

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30
Q

What is the first sign of puberty?

A

breast development and increased testes size

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31
Q

What hormone controls closure of epiphyseal plates?

A

Estrogen

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32
Q

Average length of time from initial sign of pubery to menarche?

A

2-2.5 years

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33
Q

When does peak height velocity occurs?

A

breast stage 2-3, always precedes menarche

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34
Q

How much more growth do females have after menarche?

A

about 3 more inches

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35
Q

At what Tanner stage does menarche occur

A

Tanner stage 4

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36
Q

normal male puberty

A

ages 9-14

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37
Q

normal female puberty

A

ages 8-13

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38
Q

Precocious puberty ages

A

< 9 males

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39
Q

Most common brain lesion that causes true precocious puberty

A

hypothalamic hamartoma - contains ectopic neural tissue that contains GNRH secretory neurons and functions as a GNRH pulse generator

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40
Q

Treatment of gonadotropin dependent precocious puberty

A

leurpolide - a GnRH analog that interrupts the pulsatile nature

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41
Q

Mccune Albright Syndrome

A

mutation in cAMP formation therefore any receptors that have cAMP dependent mech are affected. Therefore TSH, FSH, LH, ACTH affected. Get oversecretion of hormones. Cafe au lait spots and fibrous dysplasia of skeletal system.

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42
Q

Definition of premature thelarche

A

isolated breast development in first 2 years of life. growth, bone maturation and genitals are normal

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43
Q

Definition of premature adrenarche

A

isolated pubic hair or other androgen effects before 8 in girls before 9 in boys.

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44
Q

what percent of boys with enlarged testes have a brain tumor?

A

25-75%. Premature isolated testelarche does not exist! This is precocious puberty

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45
Q

Pubertal gynecomastia occurs during which tanner stages?

A

2-4

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46
Q

When do boys with gynecomastia need further workup?

A

When occurs in atypical tanner stage (1 or 5). atypical age 16, abnormal pubertal progression, patients with macrogyneco, patients requesting surgery

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47
Q

What ingestions can cause premature thelarche and psuedopuberty?

A

estrogen creams, OCPS, excessive soy, tea tree oil, lavender

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48
Q

What causes increased TBG thus increased total T4?

A

estrogens, pregnancy, tamoxifen, narcotics, biliary cirrhosis, hepatitis

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49
Q

What causes decreased TBG thus low total T4

A

androgens, glucocorticoids, nephrotic syndrome

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50
Q

What drugs blcok peripheral conversion of T4 to T3?

A

propranolol, glucocorticoids, PTU, amiodarone

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51
Q

Does a thyroglossal duct cyst move with swallowing?

A

Yes

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52
Q

Most common cause of congenital hypothyroidism

A

thyroid dysgenesis

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53
Q

Relationship of hypothyroidism and jaundice

A

low Thyroxine causes slowed conjugation of bilirubin

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54
Q

signs and symptoms of congenital hypothyroidism

A

enlarged posterior fontanelle, delayed dentition, large tongue, myxedema, devo delay

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55
Q

What percent of patients with DM1 have thyroid disease?

A

10-15%

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56
Q

What antibodies are found in hashimotos?

A

Antithyroglobulin, Antithyroperoxidase

57
Q

Drug treatment of choice for hyperthyroidism in peds

A

MTX over PTU (risk of hepatotox and death)

58
Q

What percent of thyroid nodules in peds are malignant?

A

25% Much less in adults

59
Q

MEN 2a

A

Medullary thyroid cancer, pheochromocytoma, hyperparathyroid

60
Q

MEN 2b

A

Medullary thyroid cancer, pheochromocytoma, and marfanoid habitus and digestive neurofibromas

61
Q

Most common cause of pediatric thyroid cancer?

A

Follicular carcinoma

62
Q

What is the first step of workup in find a thyroid nodule?

A

Check TSH, if suppressed do thyroid uptake scane to look for HOT nodule, if elevated or normal do an ultrasound to confirm the presence

63
Q

What is the best tumor marker to follow for thyroid cancer?

A

Thyroglobulin

64
Q

Actions of PTH

A

causes release of bone calcium stores, decreases renal excretion of calcium, but increases Phos excretion, increases activity of hydroxlase that converts vitamin D

65
Q

Actions of 1,25-OH D3

A

Increases Ca and PO4 absorption from gut, Increases Ca resorption from bone and increases Ca and Phos reabsorption from kidneys

66
Q

High ca and high pos are due to

A

high vitamin d levels

67
Q

High ca and low phos are due to

A

high PTH levels

68
Q

Low Ca and Low phos are due to

A

Low vitamin D levels

69
Q

Low Ca and high phos are due to

A

low PTH levels

70
Q

What does calcitonin do?

A

Slows down osteoclasts which causes decreased bone resorption and increases renal calcium clearance. DECREASES calcium

71
Q

Effect of glucocorticoids on bone

A

help maintain osteoblasts function, but large amounts decrease the bonematrix and cause calciuria

72
Q

Effect of estrogen on bone

A

decreases bone resorption and increases osteoblastic activity

73
Q

APS1

A

Autoimmune hypoparathyroidism, Addison disease and chronic mucocut candidiasis. AR. MAy also have hair loss, vitiligo, hepatitis

74
Q

APS 2

A

type 1 DM, thyroid disease, Addisons

75
Q

What endo disorder is associated with basal ganglia calcification

A

hypoparathyroidism

76
Q

Psuedohypoparathyroidism

A

resistance to PTH; multiple forms exist.

77
Q

What are radiologic signs of rickets?

A

irregular calcification, cupping of metaphysis, fraying and widening of growth plate, diffuse osteomalacia

78
Q

What is hypophosphatemic rickets

A

Renal disorder, X linked. causes over active FGF 23 which causes phosphate wasting. Extremely low serum phos, high urine phos, elevated alk phos and normal PTH, normal vita D

79
Q

MEN 1

A

pituitary, parathyroid and pancreatic hyperplasia or neoplasia

80
Q

3 zones of adrenal cortex

A

Glomerulosa (mineralocorticoids), fasciculata (cortisol), reticularis (androgens)

81
Q

What is the best test to diagnose someone with Cushing’s disease

A

24 hour urine cortisol

82
Q

Adrenoleukodystrophy genetic pattern

A

X linked

83
Q

Adrenoleukodystrophy underlying issue

A

high levels of very long chain fatty acids - peroxisome defect

84
Q

Clinical presentation of Adrenoleukodystrophy

A

Degenerative neurologic disorder that begins in childhood or adolescense, progresses to severe dementia, loss of vision, hearing, speech, gait

85
Q

What is the most common form of CAH?

A

21 hydroxylase deficiency. Elevated 17- hydroxyprogesterone

86
Q

Characteristics of 21 hydroxylase CAH

A

Most infants are virilized and salt losers (25% do not waste salt). will have fast post-natal growth and precocious puberty.

87
Q

Elevated metabolite in 11B hydroxylase deficiency

A

11-deoxycortisol

88
Q

Clinical signs of 11B hydroxylase deficiency

A

No salt wasting, instead have hypertension because one of the metabolites Deoxycorticosterone has mineralocorticoid activity . Virilized.

89
Q

Clinical signs of 3B hydroxysteroid

A

Lack cortisol, aldosterone and testosterone, but have increase DHEA. Salt wasting but mild virilization, boys with hypospadias, shortly after birth get axillary and pubic hair.

90
Q

Treatment of CAH

A

hydrocortisone to treat adrenal insufficency and prevent excessive production of androgens. If have salt wasting give florinef and salt.

91
Q

Most common cause of Cushing’s syndrome in infants

A

Adrenocortical tumor

92
Q

How does cushing syndrome affect growth?

A

Obesity with poor height velocity.

93
Q

When are cortisol levels the highest?

A

8am, decrease by 50% by 8pm

94
Q

When do you check cortisol when screening for adrenal insuff vs Cushings?

A

For insuff want to check AM cortisol, but for cushings, no diurnal pattern thus can check mid day.

95
Q

What do you test to diagnose a pheo?

A

Urinary VMA and metanephrines

96
Q

When removing pheochromocytoma, what must be given

A

alpha and beta blockers, lots of fluids.

97
Q

What are genetics of noonan syndrome?

A

AD. Variable expression. Mapped to chromosome 12q

98
Q

Heart defect of noonan syndrome

A

Pulmonic stenosis

99
Q

Clinical manifestations of noonan syndrome

A

Short stature, neck webbing, pectins excavatum, hypertelorism, downward slanting palpebral fissures, intellectual disability in 25%, hearing loss

100
Q

Karyotype of Klinefelter syndrome

A

47XXY

101
Q

Clinical signs of Klinefelter syndrome

A

Intellectual disability, psych issues , small testes, gynecomastia, long legs, increased brca risk

102
Q

Genetics of kallman syndrome

A

X linked

103
Q

Clinical features of kallman syndrome

A

Anosmia and hypogonadotrophic hypogonadism

104
Q

What tanner stage should boys be at if they have gynecomastia ?

A

Tanner 2-4. If tanner 1 or 5 need for eval

105
Q

Incidence of Turner syndrome

A

1/2000 live births. Risk does not increase with maternal age. 3% of conceptions are x0 but 99% of these spontaneously abort

106
Q

What r turners kidney findings?

A

Pelvic kidney, horseshoe kidney, double collecting sys, one kidney

107
Q

Diagnostic criteria of PCOS

A

2 of following : 1. Irregular anovulatory cycles 2. Signs of hyperandrogenism chemical or physical 3. Poly cystic ovaries

108
Q

Side Effect of danazol on fetus

A

Ambiguous genitalia

109
Q

What is Denys drash syndrome?

A

Occurs in 46xy associated with nephropathy, ambiguous genitalia (formed mullerian ducts), WT

110
Q

5 a reductase deficiency

A

Decreased production of DHT which is necessary for development of male external genitalia. Infants present wih small penis, bifid scrotum, blind vaginal pouch Usually characterized as female at birth and penis enlarges at puberty

111
Q

Androgen insensitivity syndrome

A

46xy, x linked , have testes and high/normal testosterone, but have defect in androgen receptor. Can be completely female appearing but with blind vaginal pouch

112
Q

Somogyi Effect

A

hypoglycemic episodes that may manifest as late nocturnal or early morning sweating, night terror and headaches 2/2 hypoglycemia followed by hyperglycemia

113
Q

After how many years of Type 1 DM do you start screening retinopathy and nephropathy?

A

5 years

114
Q

What is MODY?

A

AD type of diabetes, onset 9-25 years. Respond to sulfonureas

115
Q

At what age do you need to work up primary amenorrhea?

A

Age 15. If havent had period by age 15 need to work it up.

116
Q

At what osmolality does thirst kick in?

A

295mOsm/L

117
Q

What abnormalities is an ectopic posterior pituitary associated with?

A

Usually seen as an ectopic bright spot at the base of the third ventricle. Anterior pit problems because infundibulum often does not migrate appropriately. Can have isolated GH def or panhypopit

118
Q

What is cerebral salt wasting and how does it differ from SIADH?

A

due to hypersecretion of atrial natriuretic peptide. Seen in patients with CNS disorders. Hyponatremic, hypovolemic, very high urine sodium >150, high urine output, low ADH (In contrast SIADH is euvolemic, slightly high urine sodium >40, low urine output, high ADH)

119
Q

Treatment of cerebral salt wasting

A

IV fluid replacement and salt replacement

120
Q

Men 2a

A

hyperPTH, medullary thyroid CA, pheo

121
Q

Men 2b

A

medullary thyroid CA, pheo, marfanoid, mucosal neuromas

122
Q

What is the Carney complex?

A

an AD disease with blue nevi, cardiac and skin myxomas, sexual precocity, primary pigmented adrenocortical disease. Associated with thyroid and pituitary tumors

123
Q

Liddle syndrome

A

AD disorder with hypertension and hypokalemia. Renin and aldo are low

124
Q

Laurence-Moon-Biedl/Bardet-Beiedl syndrome

A

Retinitis pigmentosa, obesity, intellectual disability, polydactlyl, genital hypoplasia, hypogonadism

125
Q

Effect of ketoconazole

A

directly inhibits testosterone synthesis. Can cause gynecomastia

126
Q

In a girl >16yo with primary amenorrhea, which is the most helpful study?

A

karyotype

127
Q

Perrault syndrome

A

XX gonadal dysgenesis with SNHL

128
Q

What infectious disease causes increased risk of type 1 DM in kids?

A

congenital rubella

129
Q

Somogyi vs dawn effect

A

Both have early morning hyperglycemia, but Somogyi effect is characterized by late nocturnal/early morning hypoglycemia, followed by hyperglycemia, glucosuria, ketosuria, ketosis - thought 2/2 too much insulin thus need to reduce the dose. Important to distinguish from Dawn effect - elevated glucose bc insulin is wearing off. Increase insulin.

130
Q

When do you start screening in DM 1?

A

5 years after diagnosis - microalbumin, optho (>age 10), lipids (>age10), celiac, thyroid

131
Q

how is prenatal screening for CAH performed?

A

molecular genetic testing of fetal cells, not amniotic levels of 17 OH progesterone

132
Q

Which genetic condition is associated with hypercalcemia

A

Williams syndrome

133
Q

what can cause delayed eruption of teeth?

A

vitamin d deficiency

134
Q

Tell me about vitamin D resistant rickets

A

Type 1 - cannot produce 1,25 - OH vita D. Type 2 - resistant to 1,25 OH vita D. Both are AR

135
Q

How is hypophosphatemic rickets inherited?

A

X linked DOMINANT

136
Q

Which CAH has virilization of both XX and XY?

A

3B HSD - DHEA builds up which is too weak to fully virilize males, but strong enough to virilize females

137
Q

The risk of a solitary thyroid nodule in a child is malignant is approximately:

A

33%

138
Q

What do you treat persistent hyperinsulinemic hypoglycemia of infancy with?

A

diazoxide, octreotide a distant second

Pediatrics (25 decks)

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