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Compiled PPS board reviewer > Endocrinology > Flashcards

Endocrinology Flashcards

1
Q

Criteria for diagnosis of diabetes

A 
- symptoms of diabetes AND RPG >=200mg/dL
OR
- FPG >=126mg/dL
OR
- Plasma glucose>200mg/dL during an OGTT
OR
- HgbA1c >=6.5%
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2
Q

HLA associated with T1DM

A

HLA DR, DQ

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3
Q

Antibody markers for T1DM

A

Anti-islet cell Ab, Anti-insulin Ab, anti-GAD65 Ab

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4
Q

B-cell mass % at onset of symptoms of T1DM

A

<10-20%

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5
Q

What are the different actions of insulin?

A
  • Enhances tissue uptake of glucose, amino acids and lipids
  • Enhances glycogen, protein and fat synthesis
  • Inhibits glucose production (gluconeogenesis and glyconeolysis)
  • Inhibits fat breakdown (lipolysis) and ketogenesis
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6
Q

“Counter-regulatory hormones”

A
  • Cortisol
  • Epinephrine
  • Glucagon
  • Growth Hormone
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7
Q

“Mild” DKA criteria

A

pH <15

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8
Q

“Moderate” DKA criteria

A

pH <10

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9
Q

“Severe” DKA criteria

A

pH <5

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10
Q

How do you calculate corrected Na+?

A

Corrected Na+ = measured Na+ + 0.016 (measured glucose-100)

“Pseudohyponatremia”

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11
Q

Cerebral edema IS/IS NOT related to DKA severity or duration or variations in usual fluid composition.

A

IS NOT

  • Cerebral edema is related to high volume fluid delivery
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12
Q

_________ is the leading cause of morbidity and mortality in children with T1DM.

A

Cerebral edema

  • Most common fatal complication of DKA
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13
Q

What did the Diabetes Control and Complications Trial 1993 (DCCT) show?

A

Reduced: retinopathy, nephropathy, neuropathy, neuropathy, macroangiopathic events, LDL

INCREASED WEIGHT GAIN

INCREASED HYPOGLYCEMIC EPISODES 3-FOLD, SO NOT RECOMMENDED FOR CHILDREN <13YRS

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14
Q

What is the Samogyi Phenomenon and how do you treat it?

A

Hypoglycemia leading to rebound hyperglycemia

Rx: decrease nighttime long-acting insulin

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15
Q

What is the Dawn Phenomenon, how do you treat it?

A

Counterregulatory early AM growth hormone

Rx: increase nighttime long-acting insulin

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16
Q

Which type of diabetes is associated with a higher genetic risk?

A

T2DM - ~100% monozygotic twins

~50% monozygotic twins in T1DM

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17
Q

A child is obese at 6yrs, what is the chance they will be obese as an adult.

A

25% chance

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18
Q

A child is obese at 12yrs, what is the chance they will be obese as an adult?

A

75% chance

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19
Q

Most common complication of obesity?

A

Psychological, low self-esteem

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20
Q
  • Plasma glucose >600mg/dL
  • Serum bicarbonate >15mmol/L
  • No or small ketonuria
  • Effective serum osmolarity >320 mOsm/L
  • Profound dehydration
  • Obese, minority children with T2DM, insulin-resistance
A

Hyperglycemic Hyperosmolar Syndrome

  • High mortality rate
  • Aggressive hydration, insulin later
  • Complications: coma, seizures, renal failure, thrombosis, rhabdomyolysis, hyperthermia, pancreatitis, persistent hypernatremia
  • Cerebral edema rare, replace urinary losses with 0.45% saline
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21
Q

Most endocrine etiologies of obesity are also associated with SHORT OR TALL stature

A

SHORT

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22
Q
  • Mildly obese
  • Really short
  • H/o hypoglycemia…?seizures
  • Micropenis
  • Bone age delay
  • Midline facial defect (CL, CP, single maxillary incisor)
  • Optic nerve hypoplasia
A

Growth Hormone Deficiency (Hypopituitarism)

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23
Q

Single maxillary incisor

A

Hypopituitarism (GH deficiency)

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24
Q
  • Floppy baby
  • Almond-shaped eyes
  • Mildly (or really) retarded
  • Sucking problems…FTT early
  • Then very obese later
  • Hypoplastic penis/scrotum
  • Small testicles and hands/feet
  • Large appetite with foraging behaviors
A

Prader-Willi Syndrome

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25
Q
  • Moderately obese
  • Round face with short neck
  • Delayed dental eruption, aplasia
  • Short 4th metacarpals/metatarsals
  • Extraskeletal calcification
  • Variable hypocalcemia and hyperphosphatemia
  • AD
A

Pseudohypoparathyroidism (Albright Hereditary Osteodystrophy)

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26
Q
  • Obesity
  • Mental Deficiency
  • Retinal dystrophy
  • Polydactyly/Syndactyly/Brachydactyly
  • Broad, short feet
  • Abnormal kidneys
  • Small penis/testes (hypogonadism)
  • AR
A

Bardet-Biedl Syndrome

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27
Q
  • Amenorrhea
  • Hirsutism
  • Obesity
  • Hyperandrogenemia
  • Premature Adrenarche
  • Abnormal Abdominal Ultrasound
  • LH elevation
A

PCOS

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28
Q
  • Obesity later
  • Hypotonia
  • Brushfield spots
  • Clinodactyly with simian crease
  • Endocardial cushion defect
  • Small penis and small testicles
A

Down Syndrome

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29
Q
  • Mild obesity
  • Growth deceleration
  • Dry skin
  • Constipation
  • Hair loss
  • Depressed/delayed relaxation phase of DTRs
  • Weakness
A

Acquired Hypothyroidism

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30
Q
  • Central obesity
  • Round facies
  • Thin extremities
  • Easy bruisability
  • Hypertension
  • Osteoporosis
  • Buffalo hump
A

Cushing Syndrome

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31
Q

Most common cause of cushing syndrome in children?

A

Exogenous steroids

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32
Q

“Primary”

A

At the end gland

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33
Q

“Secondary”

A

At the pituitary

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34
Q

“Tertiary”

A

At the hypothalamus

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35
Q

Anterior pituitary gland produces…

A

Portal system

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36
Q

Posterior pituitary gland produces…

A

ADH

Neural system

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37
Q

Triggers for ADH release

A

+ high osmolality –> ADH –>retain free water
- low osmolality –> ADH inhibition

If no ADH –> DIABETES INSIPIDUS and HYPERNATREMIA

If excess ADH –> SIADH and HYPONATREMIA

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38
Q

Rx for DI

A

Hydrate and give DDAVP

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39
Q

Rx for SIADH

A

Fluid restrict (1000mg/m2/day or less)

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40
Q

Decreased T4

Elevated TSH

A

PRIMARY HYPOTHYROIDISM

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41
Q
  • Severe growth and developmental delay
  • Prolonged jaundice
  • Constipation
  • Coarse features
  • Umbilical hernia and large anterior fontanelle
A

CONGENITAL HYPOTHYROIDISM

  • TSH > 25 after 24hrs is + screen
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42
Q

Abs in Hashimoto Thyroiditis

A

Anti thyroglobulin and Anti-TPO

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43
Q 
Elevated TSH
Low T4
Low Free T4
Low T3
Mild normocytic or microcytic anemia
A

Hypothyroidism

44
Q

SUPPRESSED TSH

ELEVATED T4, Free T4, Total T3

A

Hyperthyroidism

45
Q

Autoimmune markers in Graves Hyperthyroidism

A

+ TSH receptor Ab (TRAb)

+/- Anti TPO, Anti TG Abs

46
Q

What percentage of solitary thyroid nodules are malignant?

A

20%

  • Reassuring: cystic nodule, +TPO/TG Ab’s
  • Non-reassuring: firm, rapid growth, +FH of medullary CA, h/o neck radiation
47
Q

External genitalia is undifferentiated until…

A

9 weeks of age

48
Q

Subnormal Testosterone or DHT

Insensitive to Testosterone

A

46XY DSD

49
Q

Excess maternal androgens
Excess exogenous androgens
Excess adrenal androgens (CAH)

A

46XX DSD

50
Q

Both ovary and testicle

A

Ovotestes 46XX, 46XY or mosaic

51
Q

What is needed for external male genitalia

A

Testosterone/Dihydrotestosterone

52
Q
  • External female genitalia
  • Internally male - no uterus, testicles present
  • No pubic/axillary hair
  • Breast tissue at puberty
  • No menses
A

Complete AIS (XY DSD)

53
Q
  • Ambiguous genitalia
  • Internally male-no uterus
  • Some pubic hair
  • Sex of rearing/gender - individualized
A

Partial AIS (Ambiguity Continuum)

54
Q

Features of 5 Alpha Reductase Deficiency

A
  • Cannot convert testosterone to highly active DHT
  • Without DHT, external genitalia is not virulized
  • At puberty, excessively high levels of testosterone can cause virilization
55
Q

++ 17 OH Progesterone, Androstenedione, Testosterone, DHT

– 11 Deoxycortisol, Cortisol

A

21-Hydroxylase Deficiency

  • Salt-wasting –> Na+ loss due to aldosterone deficiency
  • Simple virilizing –> F ambiguous genitalia, M early adrenarche/puberty
  • Non-classical –> presents in adolescence with hirsutism and menstrual irregularities
56
Q

Most common form of CAH

A

21-Hydroxylase Deficiency

57
Q

++ 11 Deoxycortisol, 11 Deoxycorticosterone DOC, 17 OH Progesterone, Androstenedione, Testosterone

– Aldosterone, Cortisol

A

11-B Hydroxylase Deficiency

  • Virilization of females (excess androgens)
  • *HTN IN LATER CHILDHOOD**
  • If untreated (and non-lethal) –> advanced bone age, early adrenarche
58
Q

Laboratory work-up for CAH

A

Pre +/- post ACTH stim

  • 17 OH Progesterone –> 21 OH deficiency
  • 11 Desoxycortisol/DOC (11 B OH deficiency)
  • 17 OH Pregnenolone (3-B Hydroxysteroid)
  • Renin/Aldosterone
  • ACTH (should be very high)
  • DHEA
59
Q

Rx for Acute Salt Wasting-Adrenal Crisis (CAH)

A
  • 10-20cc/kg NS bolus

- Hydrocortisone 25mg IM/IV, then 100mg/m2/day divided q6hrs

60
Q

Rx chronic salt wasting and virilizing CAH

A
  • Hydrocortisone 15mg/m2/day

- Fludro 0.1-0.2mg/day (SW only)

61
Q

Follow-up for 17-OHP

A

Andro and renin levels q3 months

62
Q

Primary adrenal insufficiency, mucocutaneous candidiasis, hypoparathyroidism

A

APS 1 (AIRE)

63
Q

Primary adrenal insufficiency, DM1, Hashimoto

A

APS 2 (Schmidt)

64
Q
  • Adrenal cortex does not develop
  • No virilization in F
  • Normal male genital development
  • Salt-losing crisis in neonatal period
A

Adrenal hypoplasia congenita

  • Rx: fluid resuscitation, HC, then FC
  • NR0B1 (DAX-1) gene
65
Q
  • Normal neurologic development initially, then loss of milestones, clumsiness
  • Adrenal insufficiency
  • X-linked
  • BMT is only curative treatment
A

Adrenoleukodystrophy

66
Q
  • Near death experience - hypotension, hyponatremia, hyperkalemia, acidosis
  • Weight loss
  • Vomiting
  • Hyperpigmentation (gums, creases of palms)
A

Signs of adrenal insufficiency

67
Q

Causes of Cushing’s Syndrome

A
  • Exogenous Steroids
  • Cushing’s Disease (ACTH production)
  • Adrenal Adenoma/Carcinoma
  • Ectopic ACTH production
68
Q

Headache
HTN
Palpitations
Sweating

A

Pheochromocytoma

  • urinary catecholamines, urinary metanephrines, MRI of adrenals, MIBG scan
  • Rx; alpha-adrenergic blockade, surgical resection
69
Q

Differential for hyperinsulinemia in neonates

A
  • IDM
  • Malposition of UA catheter
  • Beta-cell dysfunction (Hyperinsulinism)
  • Perinatal stress/hypoxia
  • BWS
70
Q

Differential for hypoglycemia in neonates

A
  • Prematurity
  • Hyperinsulinism
  • Hypopituitarism
71
Q

Hypoglycemia at random times with respect to food

A

Hyperinsulinism

72
Q

Hypoglycemia and no/trace ketones after an event

A

Insulin or FA oxidation defect

73
Q

Hypoglycemia and midline defects or nystagmus

A

Pituitary (GH/cortisol)

74
Q

Hypoglycemia after overnight fast

A

Pituitary (GH/cortisol) or FA oxidation defect

75
Q

PTH net effect

A

Increase serum calcium

Decrease serum phosphorus

76
Q

Vitamin D net effect

A

Increases absorption of both calcium and phosphorus

AND feedback inhibitor for PTH

77
Q

3 mechanisms by which PTH increases calcium

A
  • Increased bone resorption
  • Increased calcium resorption from kidney
  • Increasing vitamin D –> increased gut absorption
78
Q

What are signs of hypocalcemia

A
  • Tetany
  • Chvostek (7th nerve)
  • Trousseau (BP cuff)
  • Irritability
79
Q
  • Cardiac defects
  • Palatal defects
  • Broad nose, long fingers
  • T-cell dysfunction (DiGeorge) - infections
A

DiGeorge/Velocardiofacial Syndrome

- 22q11 deletion

80
Q

– Ca
++PO4
–PTH

A

Hypoparathyroidism

81
Q

– Ca
++PO4
++PTH

A

Pseudohypoparathyroidism

82
Q

–Ca
–PO4
++AP

A

Rickets

83
Q
  • Bowing of legs
  • Widening, cupping and fraying of distal metaphyses
  • X-linked (still affects females)
  • LOW SERUM PHOS
  • HIGH URINE PHOS
  • NORMAL SERUM CALCIUM
  • High AP
  • NORMAL VIT D
A

Hypophosphatemic Rickets = genetic rickets

Rx: Rocaltrol and Phosphorus

84
Q

++PTH
++Ca
–PO4

A

Hyperparathyroidism-Parathyroid Adenoma

Can be part of MEN I, II

85
Q

–iPTH
++Ca
–PO4
++PTHrP

A

Elevated PTHrP (secreted by tumor)

86
Q

–PTH
++Ca
++PO4

A

Hypervitaminosis D

87
Q

This syndrome is associated with hypercalcemia and a cocktail personality

A

Williams Syndrome

88
Q

Rx for hypercalcemia

A 
Hydration
Furosemide
Glucocorticoids
Calcitonin
Bisphosphonates
89
Q

Growth Velocity first 3 years of life

A 
Rule of 24 (year x GV = 24)
1st year - 24cm/year
2nd year - 12cm/year
3rd year - 8cm/year
Puberty peak is 10cm/year boys, 8cm/year girls
90
Q

Most common cause of short stature

A

Constitutional delay

  • “late bloomer”
  • normal labs
  • delayed bone age
  • otherwise healthy
91
Q

Side effects of GH

A
  • Head-shoulders-knees & hips
    • pseudotumor cerebri
    • scoliosis (association or causation)
    • SCFE
  • Associated with thyroid and cortisol deficiencies
  • Increased risk of colon CA
92
Q
  • Small at birth
  • Limb assymetry
  • Triangular head
  • Cryptorchidism
  • No catch-up growth
A

Russell-Silver Syndrome

93
Q

Tanner stage at which menarche occurs

A

Tanner stage 4

94
Q

Thelarche

A

Breast development

  • first sign of puberty in 90%
  • age 8-13* (controversy)
  • Eight is great, 13 is too late
95
Q

Adrenarche/Pubarche

A

Pubic hair

  • follows thelarche shortly
  • age 9-13
96
Q

Growth Spurt

A

Tanner 2-3 = peak growth

97
Q

Menarche commencement

A

~ 2 years after the start of puberty

- avg age is 12.4 years

98
Q

Order of pubertal development

A

T-A-G-Me = thelarche, adrenarche, growth spurt, menarche

99
Q

First sign of puberty in males

A

Phallic enlargement

100
Q

Puberty progression in males

A

T-H-P-G-A
Testicular enlargement - Hair - Penile enlargement - Growth spurt (III-IV) - Axillary/Facial hair

9 is fine, 14 is draw the line

101
Q

Precocious puberty

A

Development of secondary sexual characteristics:

  • before 8yrs in F
  • before 9yrs in M

Central or peripheral/pseudo precocious

102
Q

Most common cause of central precocious puberty in girls

A

95% idiopathic

103
Q

Most common cause of central precocious puberty in boys

A

Majority are not idiopathic

104
Q

Cafe-au-lait
Fibrous Dysplasia
Precocious Puberty

A

McCune Albright Syndrome

  • G-protein abnl
  • Girls>Boys
  • Other endocrine systems also involved
105
Q

Rx Central Precocious Puberty

A

GnRH agonists - Leuprolide or Histrelin

- down-regulates receptors on pituitary gland

106
Q

Delayed puberty

A

No secondary sexual development by age 13 in girls, 14 in boys

Nonendocrine vs. Endocrine

107
Q

Anosmia and delayed puberty

A

Kallmann Syndrome

Compiled PPS board reviewer (60 decks)

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