Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Royal College Exam > Endocrine > Flashcards

Endocrine Flashcards

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.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

What is premature thelarche?

A

Early breast development

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

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

A

Tanner stage 4-5

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

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

A

growth spurt occurs before menses

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Definition of precocious puberty

A

girls < 8 yrs, boys < 9 yrs

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

hormone pattern in primary gonadal failure

A

elevated LH/FSH, low estrogen/testosterone

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

pubic hair, acne, body odor but no thelarche

A

premature adrenarche due to secretion fo adrenal androgens (DHEA)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

first sign of puberty in boys

A

testicular growth

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

what is pubarche?

A

pubic hair growth

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

what testicular volume indicates puberty?

A

4mL = 2.5 cm

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

what is DHEAS

A

an adrenally produced androgen

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

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

A

growth hormone

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

incidence of Turner syndrome

A

1/2000

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

diagnosis of type 1 diabetes - fasting

A

fasting blood glucose > 7 mmol

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

diagnosis of type 1 diabetes - random

A

random glucose > 11.1 mmol

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

most common CAH mutation

A

21-hydroxylase enzyme deficiency

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

micropenis in term infant

A

<2.5cm

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

most common type of pediatric thyroid cancer

A

papillary carcinoma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

treatment of thyroid cancer

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

what is the antibody in graves disease

A

thyrotropin receptor stimulating antibody

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

causes of hyperthyroidism

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

syndromes associated with pheochromocytoma

A

VHL, MEN2, NF1

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

how to screen for cushing’s disease

A

24 hour urinary free cortisol

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

anterior pituitary hormones

A 
TSH
LH
FSH
prolactin
GH
ACTH
"go find the adenoma please"
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

posterior pituitary hormones

A

ADH

oxytocin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

steroids made by adrenal gland

A

zona glomerulosa - aldosterone

zona fasiculata - cortisol

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

first sign of puberty in males

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

first sign of puberty in females

A

breast bud formation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

Definition of premature adrenarche

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

What does premature adrenarche put girls at risk for?

A

PCOS, hyperandrogenism, +/- metabolic syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
32
Q

DDX isolated vaginal bleeding

A 
vulvovaginitis
urethral prolapse
sexual abuse
sarcoma botryoides
foreign body
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
33
Q

What is the origin of a craniopharyngioma?

A

remnant of rathke’s pouch

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
37
Q

Triad associated with multiple pituitary hormone deficiency

A

Anterior pituitary hypoplasia
Absent pituitary stalk
Ectopic bright spot on MRI

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
38
Q

Definition of precocious puberty

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
40
Q

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

A

75%!

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
43
Q

Tx of central precocious puberty (idiopathic)

A

GnRH agonist (Lupron)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
44
Q

Most common CNS lesion causing central precocious puberty

A

Hypothalamic hamartomas (associated with gelastic or psychomotor seizures)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
45
Q

Types of CNS tumous that can cause central precocious puberty

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
46
Q

The alpha subunit of TSH is the same as….

A

FSH

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
47
Q

Abnormally elevated TSH in boys causes…

A

testicular enlargement

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
48
Q

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

A

LH receptors in Leydig cells, causing release of testosterone

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
49
Q

McCune Albright - TRIAD

A

precocious puberty
polyostotic fibrous dysplasia
cafe au lait macules

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
50
Q

Other clinical features of McCune Albright

A

multinodular goiter
cushing’s syndrome
gigantism/acromegaly
hypophosphatemic rickets

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
51
Q

LH stimulates

A

Leydig cells to make testosterone

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
52
Q

FSH stimulates

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
53
Q

Tx of familial male AD GnRH independent precocious puberty

A

ketoconazole

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
54
Q

Leydig cell tumours result in….

A

asymmetric enlargement of testes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
56
Q

Denys-Drash syndrome

A

early onset renal failure
Wilm’s tumour
abnormal external genitalia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
57
Q

Definition of delayed puberty

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
58
Q

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

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
61
Q

Noonan syndrome mutation

A

PTPN11 - gene on chromosome 12q24.1

Rasopathy!

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
62
Q

Kleinfelter genetics

A

47 XXY

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
63
Q

Kleinfelters - increased risk of…

A

pulmonary disease
varicose veins
breast cancer
hypergonadotropic hypogonadism

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
64
Q

Kleinfelters - increased risk of what cancers

A

male breast cancer
germ cell tumour
leukemia, lymphoma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
65
Q

Kallman syndrome

A

hypogonadotropic hypogonadism AND anosmia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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!

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
67
Q

what % of boys get gynecomastia during puberty?

A

approx 65%

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
68
Q

gynecomastia + galactorrhea - think of what?

A

prolactinoma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
70
Q

Premature ovarian failure

A

arrest of normal ovarian function before the age of 40yrs

aka hypergonadotropic hypogonadism

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
71
Q

Turner syndrome - where does the single x come from?

A

the single x is usually maternal!

not associated with parental age

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
73
Q

How common are anti-thyroid antibodies in Turner syndrome

A

30-50% of patients!

thyroid peroxidase or thyroglobulin antibodies

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
74
Q

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

A 
celiac disease (4-6%)
autoimmune thyroid disease (10-30%)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
75
Q

Turner syndrome - MSK issues to look for

A

scoliosis (10%)

congenital hip dysplasia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2025 Bold Learning Solutions. Terms and Conditions