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Royal College Exam > Endocrine > Flashcards

Endocrine Flashcards

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1
Q

What is premature adrenarche?

A

Early activation of HPA axis, often seen in obese children. Typical onset 4-8 yrs. Mild growth spurt. May have mildly advanced bone age. Pubic hair, axillary hair, apocrine sweat.

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2
Q

What is premature thelarche?

A

Early breast development

Typically happens between birth to 2 yrs, most regress, no long term risks.

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3
Q

At what tanner stage does peak height velocity occur in males?

A

Tanner stage 4-5

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4
Q

When does peak height velocity occur in girls, relative to menarche?

A

growth spurt occurs before menses

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5
Q

Definition of precocious puberty

A

girls < 8 yrs, boys < 9 yrs

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6
Q

hormone pattern in primary gonadal failure

A

elevated LH/FSH, low estrogen/testosterone

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7
Q

pubic hair, acne, body odor but no thelarche

A

premature adrenarche due to secretion fo adrenal androgens (DHEA)

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8
Q

first sign of puberty in boys

A

testicular growth

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9
Q

what is pubarche?

A

pubic hair growth

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10
Q

what testicular volume indicates puberty?

A

4mL = 2.5 cm

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11
Q

what is DHEAS

A

an adrenally produced androgen

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12
Q

what is an intervention you can take to improve growth in Turner’s syndrome?

A

growth hormone

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13
Q

incidence of Turner syndrome

A

1/2000

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14
Q

diagnosis of type 1 diabetes - fasting

A

fasting blood glucose > 7 mmol

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15
Q

diagnosis of type 1 diabetes - random

A

random glucose > 11.1 mmol

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16
Q

most common CAH mutation

A

21-hydroxylase enzyme deficiency

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17
Q

micropenis in term infant

A

<2.5cm

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18
Q

most common type of pediatric thyroid cancer

A

papillary carcinoma

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19
Q

treatment of thyroid cancer

A

thyroidectomy, post-operative radio-ablation to remove any remaining tissue

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20
Q

what is the antibody in graves disease

A

thyrotropin receptor stimulating antibody

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21
Q

causes of hyperthyroidism

A

graves (thyrotropin receptor stimulating antibody), subacute thyroiditis, suppurative thyroiditis, toxic adenoma, exogenous thyroid hormone

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22
Q

syndromes associated with pheochromocytoma

A

VHL, MEN2, NF1

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23
Q

how to screen for cushing’s disease

A

24 hour urinary free cortisol

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24
Q

definition of pathologic #s

A

2 or more long bone #s < 10 yrs, 3 or more long bone #s < 19 yrs, any vertebral compression # (loss of > 20% of vertebral height)

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25
Q

anterior pituitary hormones

A 
TSH
LH
FSH
prolactin
GH
ACTH
"go find the adenoma please"
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26
Q

posterior pituitary hormones

A

ADH

oxytocin

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27
Q

steroids made by adrenal gland

A

zona glomerulosa - aldosterone

zona fasiculata - cortisol

zona reticularis - DHEA-S and androstenedione (pre-cursor to testosterone)

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28
Q

first sign of puberty in males

A

testicular enlargement (volume > 4mLs or size > 2.5cm)

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29
Q

first sign of puberty in females

A

breast bud formation

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30
Q

Definition of premature adrenarche

A

sexual hair < 8 yrs in girls, < 9 yrs in boys

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31
Q

What does premature adrenarche put girls at risk for?

A

PCOS, hyperandrogenism, +/- metabolic syndrome

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32
Q

DDX isolated vaginal bleeding

A 
vulvovaginitis
urethral prolapse
sexual abuse
sarcoma botryoides
foreign body
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33
Q

What is the origin of a craniopharyngioma?

A

remnant of rathke’s pouch

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34
Q

stimuli for ADH release?

A

increased plasma osmolality (sensed by osmoreceptors in hypothalamus)
AND
hypovolemia (sensed by baroreceptors in carotid sinus of aortic arch)

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35
Q

What should you think of if you see a patient with a single central incisor?

A

Midline defects – congenital hypopituitarism and GH deficiency

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36
Q

DDX acquired GH deficiency

A 
autoimmune - sarcoid
irradiation
idiopathic
sheehan syndrome
tumour (craniopharyngeoma, glioma, pinealoma, pituitary adenoma)
CNS - stroke, TBI (NAI)
infectious (meningitis, encephalitis)
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37
Q

Triad associated with multiple pituitary hormone deficiency

A

Anterior pituitary hypoplasia
Absent pituitary stalk
Ectopic bright spot on MRI

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38
Q

Definition of precocious puberty

A

Appearance of secondary sexual characteristics OTHER THAN PUBIC HAIR
Girls < 8 yrs
Boys < 9 yrs

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39
Q

DDX central precocious puberty

A 
idiopathic
CNS tumours
hypothalamic hamartoma
severe, untreated hypothyroidism (elevated TSH - alpha subunit is same as FSH)
hydrocephalus, myelomeningocele
trauma
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40
Q

Precocious puberty in boys - what percent have structural/CNS cause?

A

75%!

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41
Q

Evaluation of precocious puberty

A

Random LH
Leuprolide (GnRH) stimulation test - then measure LH after
Sex steroids (testosterone, estradiol, DHEA-S), TSH
Bone age (should be advanced)
Consider MRI brain - ALWAYS in males, in females < 6 yrs
Abdo U/S - ovaries, uterus

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42
Q

When to MRI if concerned about central precocious puberty

A

Girls with rapid breast development, girls < 6 yrs, ALL boys, girls with estradiol > 30 pg/mL

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43
Q

Tx of central precocious puberty (idiopathic)

A

GnRH agonist (Lupron)

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44
Q

Most common CNS lesion causing central precocious puberty

A

Hypothalamic hamartomas (associated with gelastic or psychomotor seizures)

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45
Q

Types of CNS tumous that can cause central precocious puberty

A

astrocytoma, ependymoma, optic tract gliomas (assoc with NF1), hypothalamic hamartoma

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46
Q

The alpha subunit of TSH is the same as….

A

FSH

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47
Q

Abnormally elevated TSH in boys causes…

A

testicular enlargement

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48
Q

Elevated hCG (from tumour secretion) in boys can stimulate….

A

LH receptors in Leydig cells, causing release of testosterone

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49
Q

McCune Albright - TRIAD

A

precocious puberty
polyostotic fibrous dysplasia
cafe au lait macules

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50
Q

Other clinical features of McCune Albright

A

multinodular goiter
cushing’s syndrome
gigantism/acromegaly
hypophosphatemic rickets

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51
Q

LH stimulates

A

Leydig cells to make testosterone

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52
Q

FSH stimulates

A

sertoli cells, resulting in stimulation of seminiferous tubules and testicular growth

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53
Q

Tx of familial male AD GnRH independent precocious puberty

A

ketoconazole

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54
Q

Leydig cell tumours result in….

A

asymmetric enlargement of testes

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55
Q

hCG secreting germ cell tumour in boys results in….

A

stimulation of LH receptor and symmetric testicular enlargement (but not to full pubertal size, due to stimulation of ONLY LH receptor) and penile growth (due to testosterone)

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56
Q

Denys-Drash syndrome

A

early onset renal failure
Wilm’s tumour
abnormal external genitalia

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57
Q

Definition of delayed puberty

A

Girls: Lack of breast development by 12 yrs
Boys: Lack of testicular enlargement by 14 yrs

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58
Q

At what bone age should you expect spontaneous puberty to start?

A

Boys: bone age 12 yrs
Girls: bone age 11 yrs

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59
Q

DDX hypogonadotrophic hypogonadism (secondary)

A

Genetic (Kallman, Prader-Willi)

Acquired (anorexia, drugs, malnutrition, chronic illness)

Pituitary (septo-optic dysplasia, tumours, infarction, infiltrative disorders, radiation)

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60
Q

Hypergonadotropic hypogonadism (primary)

A

Mutations causing FSH, LH resistance

Gonadal dysgenesis

Klinefelter syndrome (47 XXY)

Noonan syndrome (PTPN-11 mutation)

CF

Acquired: Chemo, rads, infection (mumps), torsion, trauma

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61
Q

Noonan syndrome mutation

A

PTPN11 - gene on chromosome 12q24.1

Rasopathy!

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62
Q

Kleinfelter genetics

A

47 XXY

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63
Q

Kleinfelters - increased risk of…

A

pulmonary disease
varicose veins
breast cancer
hypergonadotropic hypogonadism

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64
Q

Kleinfelters - increased risk of what cancers

A

male breast cancer
germ cell tumour
leukemia, lymphoma

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65
Q

Kallman syndrome

A

hypogonadotropic hypogonadism AND anosmia

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66
Q

Neonatal gynecomastia is seen in ______ % and resolves by _____

A

seen in 60-90% of newborns and usually resolves by 2 months

5% have galactorrhea!

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67
Q

what % of boys get gynecomastia during puberty?

A

approx 65%

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68
Q

gynecomastia + galactorrhea - think of what?

A

prolactinoma

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69
Q

DDX gynecomastia in teenage boy

A

Normal pubertal gynecomastia
Genetic predisposition
Exogenous estrogen
Kleinfelter syndrome
Peutz-Jeghers
Hyperthyroidism (mimicks FSH stimulation)
(If galactorrhea present, think of prolactinoma)

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70
Q

Premature ovarian failure

A

arrest of normal ovarian function before the age of 40yrs

aka hypergonadotropic hypogonadism

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71
Q

Turner syndrome - where does the single x come from?

A

the single x is usually maternal!

not associated with parental age

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72
Q

Life threatening consequence of Turner syndrome

A

coarctation of the aorta, bicuspid aortic valve
ALSO: ascending aortic dilation, partial anomalous pulmonary venous return

(adults: premature coronary artery disease)

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73
Q

How common are anti-thyroid antibodies in Turner syndrome

A

30-50% of patients!

thyroid peroxidase or thyroglobulin antibodies

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74
Q

What other autoimmune conditions should you screen for in Turner syndrome?

A 
celiac disease (4-6%)
autoimmune thyroid disease (10-30%)
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75
Q

Turner syndrome - MSK issues to look for

A

scoliosis (10%)

congenital hip dysplasia

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76
Q

Turner syndrome with Y chromosome material is at increased risk of…

A

gonadoblastoma (7-10%)

recommendation: Prophylactic gonadectomy (even if no evidence of tumours)

77
Q

What is the gonadoblastoma locus on the Y chromosome

A

GBY

78
Q

What is Perrault syndrome?

A

XX gonadal dysgenesis + sensorineural deafness

79
Q

Definition of amenorrhea

A

absence of menses at age 15 OR > 3 yrs post thelarche

80
Q

Top 2 causes of primary amenorrhea

A

gonadal dysgenesis

mullerian agenesis

81
Q

45 X / 46 XY - at increased risk of?

A

gonadoblastoma in 25%

82
Q

47XXX

A

1/1000 live born females, due to maternal meiotic non-disjunction

normal sexual development, menses

speech/language delay, poor academics, tall, gangly, behaviour issues

MRI - low amygdala volumes

83
Q

Girls with noonan syndrome

A

CHD - pulmonary valvular stenosis

normal sexual maturation (may be delayed 2 yrs)

84
Q

Ovarian failure - genetic/metabolic causes

A

45X
galactosemia
denys-drash
ataxia-telangiectasia

85
Q

If you see galactorrhea and secondary amenorrhea - what should you think of?

A

a pituitary adenoma (elevated prolactin - suppresses GnRH, causing secondary amenorrhea)

86
Q

anosmia and hypogonadotropic hypogonadism is called what?

A

Kallmann syndrome

87
Q

47XXY and hypergonadotropic hypogonadism

A

Kleinfelters

88
Q

What should you think about in a patient with septo-optic dysplasia and an intercurrent illness?

A

They have pituitary deficiencies (in 25%) - should give stress dosing hydrocortisone if they are unwell!

89
Q

Production of T3

A

20% secreted by thyroid

80% as a result of de-iodination of T4 by liver/kidney/other tissues

90
Q

where is the thyroid hormone receptor located

A

in the cell nucleus

91
Q

Which four hormones have the same alpha subunit?

A

TSH
FSH
LH
hCG

92
Q

How would you evaluate for ectopic thyroid tissue (or thyroid agenesis)?

A

Thyroid radionuclide testing with Technetium-99 or Radioiodine-123

93
Q

prevalence of congenital hypothyroidism

A

1 in 3000

94
Q

most common cause of congenital hypothyroidism in north america

A

thyroid dysgenesis (80-85% of cases, 1/3 of these are complete aplasia)

(#2: dyshormonogenesis, #3: thyrotropin receptor-blocking antibody)

95
Q

What is Pendred syndrome?

A

an autosomal recessive condition w/ sensorineural deafness and goiter

(defect in chloride-iodide transport protein in both thyroid and cochlea)

96
Q

Baby with congenital hypothyroidism, and mom with:

hashimoto’s, graves, hypothyroidism on replacement tx

what diagnosis to consider?

A

the presence of thyrotropin receptor blocking antibodies

(3rd most common cause of congenital hypothyroidism - still v. rare)

Resolves within 3-6 mos

97
Q

most common cause of congenital hypothyroidism worldwide

A

iodine deficiency

98
Q

What congenital anomaly often co-exists with congenital hypothyroidism?

A

cardiac anomalies in 10%

also: CNS, eye anomalies, hearing loss

99
Q

what clinical finding might you see in a patient with ectopic thyroid?

A

thyroglossal duct cysts

100
Q

ECG + ECHO findings in congenital hypothyroidism

A

ECG: low voltage P and T waves, low amplitude QRS

ECHO: poor left ventricular function, pericardial effusion

101
Q

adverse effect of overdose of thyroxine

A

craniosynostosis

“temperment problems”

102
Q

most common cause of acquired hypothyroidism

A

chronic lymphocytic thyroiditis

103
Q

Conditions at increased risk of autoimmune thyroid disease

A 
Down (20%)
Turner's (30%)
Kleinfelters
T1DM (5%)
Celiac
Sjogren
MS
Pernicious anemia
Cystinosis
Vitiligo
Alopecia
Congenital rubella
104
Q

Medication that can induce hypothyroidism

A 
Amiodarone (due to high levels of iodine)
Lithium
PPU
Methimazole
Iodides
Valproate (subclinical)
105
Q

Other rare causes of acquired hypothyroidism

A

chronic hep C infection

large liver hemangiomas (increased conversion of T4 – T3 – T2)

106
Q

first clinical manifestation of acquired hypothyroidism

A

deceleration of growth

107
Q

what antibodies should you test for if you suspect autoimmune thyroiditis?

A

anti-TPO

anti-thyroglobulin

108
Q

subacute granulomatous thyroiditis (de quervain disease)

A

possible viral cause
URTI with tenderness over thyroid - then severe pain over thyroid
inflammation causes release of T4/T3
FOUR Phases:
hyperthyroid, euthyroid, hypothyroid and then remission

109
Q

Nutrient deficiencies that can cause goiter

A

Selenium
Iron
Vitamin A

110
Q

Wolff-Chaikoff effect

A

administration of large doses of iodide, results in inhibition of organification of iodine and decreased synthesis of thyroid hormone

111
Q

Condition associated with toxic multinodular goiter, cafe au lait macules, precocious puberty, polyostotic fibrous dysplasia

A

mccune albright

112
Q

common causes of hyperthyroidism

A 
Graves disease
Post-partum thyroiditis
Toxic multinodular goiter
Toxic solitary adenoma
Exogenous thyroid hormone
113
Q

splenomegaly, lymphadenopathy, goiter, involvement of retro-orbital tissues, enlarged thymus - findings in what condition?

A

Graves disease

114
Q

Antibody in Graves disease

A

thyrotropin receptor stimulating antibody (TRSAb)

115
Q

HLA associations with Graves disease in Caucasian populations

A

HLA-B8, HLA-DR3

116
Q

Thyrotropin receptor stimulating antibodies to measure

A

TBI, TBII

117
Q

differentiating between exogenous thyroid hormone and Graves disease

A
  • both have elevated T4 and suppressed TSH however thyroglobulin will be LOW in exogenous supplementation and elevated in Graves disease
118
Q

Treatment of graves

A

Methimazole (risk of liver disease with PTU) - cure rate 30-80%

Radioiodine > 10 yrs

Subtotal thyroidectomy

119
Q

Frequency of neonatal hyperthyroidism (if mom has hx of Graves)

A

2%

120
Q

Treatment of neonatal graves disease

A

propanolol and methimazole

121
Q

Familial hypocalciuric hypercalcemia is due to..

A

loss-of-function mutation of calcium sensing receptor (resulting in increased set-point for calcium homeostasis)

122
Q

Mechanism of action of Calcitonin

A

inhibits bone resorption by affecting osteoclastic activity (tones down calcium in the blood)

123
Q

Sites of action: PTH

A

Kidney: increase 1,25-OH-Vit D

Gut: increased Ca absorption

Bone: Increased bone resorption

124
Q

Aplasia or hypoplasia of the parathyroid gland is associated with what syndrome…

A

DiGeorge (22q11.2)

can have neonatal hypocalcemia

125
Q

What syndrome is a result of a GATA3 mutation

A

HDR syndrome:
hypoparathyroidism
sensorineural deafness
renal anomaly

126
Q

Transient hypocalcemia of the newborn may be as a result of what (usually asymptomatic) condition in the mother

A

maternal hyperparathyroidism (causing suppression of neonatal parathyroid hormone), often due to a parathyroid adenoma

127
Q

Common surgical cause of hypoparathyroidism

A

thyroidectomy (even when parathyroid glands are identified and left intact)

128
Q

Two deposition/infiltrative disorders that can cause hypoparathyroidism

A

Thalassemia

Wilson’s disease

129
Q

Autoimmune polyglandular syndrome type I

A

HAM syndrome:
hypoparathyroidism
Addisons
mucocutaneous candidiasis

Autosomal recessive

130
Q

PE signs of hypercalcemia

A

Chvostek - tapping on face anterior to ear results in twitching of face

Trousseau - inflate BP cuff above SBP x several minutes, results in muscular contraction (flexcious of wrist and MCPs)

131
Q

Chovstek’s sign

A

tapping on face in front of ear results in twitching of muscles, sign of hypercalcemia

132
Q

Trousseau’s sign

A

inflate a BP cuff > SBP x several minutes, results in muscle contraction / wrist flexion

Sign of hypercalcemia

133
Q

PE findings of long-standing hypocalcemia

A

irregular enamel formation, soft teeth, dry/scaly skin, cataracts, intellectual delay

134
Q

ECG finding hypocalcemia

A

prolonged QT

135
Q

What can develop if you treat patients with autosomal dominant hypocalcemic hypercalciuria with Vit D?

A

nephrocalcinosis, renal impairment

136
Q

What other electrolytes should you check in hypocalcemia?

A

Magnesium - can lead to hypocalcemia (unclear mechanism, may impair release of PTH)

Phosphate - can be elevated

137
Q

what causes pseudohypoparathyroidism?

A

genetic defect in PTH receptor

138
Q

MSK changes in pseudohypoparathyroidism

A
  • short stature
  • brachydactyly (short fingers, usually first finger is longer than 2nd)
  • subcutaneous calcium deposits
  • bowing of bones
139
Q

what is pseudopseudohypoparathyroidism?

A

anatomic features of pseudohypoparathyroidism with normal calcium levels - PTH may be slightly elevated, may be related to slightly reduced receptor activity

140
Q

MEN I

A

autosomal dominant disorder

hyperplasia of pancreas, anterior pituitary and parathyroid glands

141
Q

in what clinical situation could transient neonatal hyperparathyroidism occur?

A 
maternal hypoparathyroidism (due to hypocalcemic condition for fetus)
results in bone manifestations
142
Q

clinical manifestations hypercalcemia

A

“bones, moans, stones, groans”

  • muscle weakness
  • fatigue
  • h/a
  • abdo pain, constipation
  • N/V
  • acute pancreatitis
143
Q

characteristic x-ray finding of hyperparathyroidism

A

resorption of subperiosteal bone along the margins of the phalanges of the hands

144
Q

hypercalcemia and elevated PTH - TWO CAUSES

A

hyperparathyroidism

familial hypocalciuric hypercalcemia (loss of function mutation of calcium sensing receptor, resulting in higher set point for serum calcium)

145
Q

tx of hyperparathyroidism

A

surgical exploration for adenoma

146
Q

what electrolyte abnormality can be seen in granulomatous disease?

A

hypercalcemia (in 30-50%) of patients with sarcoid, less often with TB
due to elevated 1,25-OH-Vit D

147
Q

what is the usual cause of hypercalcemia of malignancy?

A

parathyroid hormone related peptide

148
Q

what can cause hypercalcemia in newborn infants?

A

subcutaneous fat necrosis (may be due to elevated 1,25-oh-vit D)

tx: prednisone

149
Q

what tissues contain ALP?

A

liver
bone
kidney

150
Q

syndrome associated with infantile hypercalcemia?

A

William’s syndrome (10%)

151
Q

what do you measure if you suspect hypervitaminosis D?

A

serum 25-OH-Vit D (not 1,25-OH-vit D) — longer half-life!

152
Q

clinical features of Rickets

A 
widened wrists/ankles (+cupping, fraying of edge of metaphysis on xray)
craniotables
rachitic rosary
harrison groove
frontal bossing
delayed fontanelle closure
scoliosis
valgus/varus deformities
leg pain
etc...
153
Q

medications associated with low Vit D levels

A

phenobarbital
phenytoin
isoniazid
rifampin

154
Q

most common cause of Fanconi syndrome in children

A

cystinosis

155
Q

lab tests - Rickets work up

A 
calcium
phosphate
ALP
PTH
25-OH-vit D
1,25-OH-vit D
cr, lytes
urine analysis (for fanconi syndrome)
156
Q

what type of Vit D should you measure?

A

25-OH-Vit D made in liver

1,25-OH-Vit D is dependent on renal fxn and enzymes

157
Q

fatal complication of hypocalcemia

A

laryngospasm

158
Q

tx of symptomatic hypocalcemia

A

IV calcium bolus (on ECG monitors)

consider active Vit D (1,25-Vit D)

159
Q

mutation in vit D dependent rickets type 1

A

mutation in enzyme 1-alpha-hydroxylase - can’t convert 25-OH-Vit D to active form (1,25-OH-Vit D!)

160
Q

vitamin D dependent rickets type 2

what is the mutation, name an associated autoimmune condition, how do you treat

A

mutation in vit D receptor, usually have high levels of 1,25-OH-vit D

50-70% have alopecia!

tx - may respond to high doses of vit D (if partial receptor activity)

161
Q

Most common cause of hypophosphatemic rickets

A

X-linked hypophosphatemic rickets

Due to mutation in PHEX gene, results in inhibition of phosphate resorption in kidney and inhibition of 1-alpha-hydroxylase enzyme in kidney

Females are symptomatic - x-linked DOMINANT disorder!

162
Q

Clinical manifestations of hypophosphatemic rickets

A

abnormalities of lower extremities
poor growth
delayed dentition, tooth abscesses

163
Q

lab findings hypophosphatemic rickets

A 
high urinary phosphate
hypophosphatemia
increased ALP
PTH, calcium levels are normal
low/normal 1,25-OH-vit D
164
Q

Tx of hypophosphatemic rickets

A

1,25-OH-vit D

phosphorus

165
Q

Viral infections implicated in T1DM

A

Congenital rubella syndrome

others: enteroviruses, mumps

166
Q

Environmental exposures that may increase risk of T1DM

A

cow’s milk protein

gluten

167
Q

How can you risk stratify patients with 1st degree family member with type 1 diabetes in terms of their future risk?

A

by number of autoantibodies

low risk = single aab

moderate risk = 2 aab

high risk = > 2 aab

168
Q

possible protective factors against developing T1DM

A

vaccination (against mumps, pertussus)
supplementing omega 3, vitamin D
breastfeeding
delaying exposure to cows-milk protein and gluten

169
Q

DKA - lab values

A

ketonuria
glucose > 11
pH < 7.3
bicarb < 18

170
Q

most common enzyme deficiency resulting in congenital adrenal hyperplasia

A

21-hydroxylase deficiency

171
Q

What are the types of classical CAH due to 21-hydroxylase deficiency?

A
  1. Salt wasting (low cortisol and aldosterone) in 70%

2. Simple virilizing (low cortisol, adequate aldosterone) in 30%

172
Q

CAH - classic salt-wasting type. Who is higher risk of mortality, boys or girls?

A

boys! because girls are detected earlier due to virilization, boys present very unwell (salt-wasting crisis, adrenal insufficiency)

173
Q

Boys with CAH - virilizing features

A 
pubic hair
axillary hair
deep voice
enlarged penis
PRE-PUBERTAL TESTES
174
Q

Lab test - CAH

A
  • low Na
  • hyperkalemia
  • elevated 17-hydroxyprogesterone in response to ACTH stimulation
  • elevated renin (due to aldosterone deficiency)
175
Q

when do you screen for proteinuria in T1DM?

A

at age 12 yrs (if T1DM for at least 5 yrs)

176
Q

How do you screen for proteinuria in T1DM?

A

first morning albumin to creatinine ratio

if abnormal, retest at least 1 month later with either a repeat first morning ACR or a timed 24 hr urine

177
Q

When do you screen for retinopathy in T1DM?

A

at age 15 or at least 5 yrs after diagnosis

178
Q

when do you screen for dyslipidemia in T1DM?

A
  1. In children < 12 yrs with risk factors for dyslipidemia (fam hx, obesity)
  2. In all children > 12 yrs with T1DM
179
Q

How often should you screen for hypertension in a child with T1DM?

A

twice per year

180
Q

When do you screen a child with T1DM for thyroid antibodies?

A

at diagnosis, and then every 2 yrs (test TSH and thyroid peroxidase antibodies)

181
Q

When should you screen a child with T1DM for celiac?

A

ONLY if symptomatic

182
Q

Glycemic target in child with T1DM < 6 yrs old

A

A1C 8.0%

183
Q

Glycemic target in child with T1DM 6-12 yrs old

A

A1C 7.5%

184
Q

Glycemic target in adolescents

A

A1C < 7%

185
Q

Osteogenesis imperfecta - triad

A

blue sclera
fragile bones
early deafness

186
Q

Type I osteogenesis imperfecta - severity, clinical features

A

mild symptoms
easy bruising, joint laxity
mild short stature
childhood fractures - improves after puberty

187
Q

Type II osteogenesis imperfecta - severity, clinical features

A

perinatal lethal

children are stillborn or die in the first yr of life, have multiple intrauterine fractures

188
Q

Type III osteogenesis imperfecta

A

severe, progressive deforming, non-lethal

in utero fractures, macrocephaly, triangular facies

MSK: flared rib cage, scoliosis, vertebral compression, extreme short stature

xray: popcorn appearance at metaphyses

189
Q

Type IV osteogenesis imperfecta

A

moderately severe
fractures after ambulation, improved after puberty
bowing of limbs
may be able to ambulate

Royal College Exam (32 decks)

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