Endocrinology Flashcards

1
Q
You are asked to evaluate a 10 year old girl with tall stature. Her current height is above the 97th percentile (155 cm). No significant past medical history, no learning or behavior concerns. Physical examination: Arm span 156cm, US:LS ratio is 1.0, no goiter, SMR III breast and pubic hair, remainder of physical examination unremarkable. The following investigations are obtained:
TSH 2.5
Free T4 15
FSH 1.2
Prolactin 6
IGF-1 320
Bone age 11 years
What is the next step in your management?
a) Begin treatment with a GnRH agonist
b) Begin treatment with glucocorticoid
c) Begin treatment with high dose estrogen 
d) Reassurance and follow up in 6 months
A

d) Reassurance and follow up in 6 months

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2
Q
You are asked to evaluate a 2 year old girl with breast development and vaginal discharge. No significant past medical history. Physical examination: Height 90th percentile, Weight 75th percentile, SMR II breast and SMR I pubic hair, pink vaginal mucosa; remainder of physical examination unremarkable. The following investigations are obtained:
FSH 0.1 LH <0.2
Estradiol 392
TSH 2.46
Bone age 3 years 10 months 
Ultrasound normal ovarian volume 
Skeletal survey normal
What is the most likely diagnosis?
1.  Exogenous estrogen exposure
2.  Premature thelarche
3.  McCune Albright syndrome
4.  Central precocious puberty
A

a) Exogenous estrogen exposure

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3
Q
A 7 year old boy presents with a 2 year history of growth acceleration. Physical examination identifies a muscular boy. He has pubic hair and increased phallic size. Testes are 12 ml and symmetric, pubic hair and genital development SMR IV. The following investigations are obtained:
LH 1.1
FSH 2.8 testosterone 12.3 DHEAS 6.9
17OHP 3.0
Bone age 11 years
What is the next step in your investigation?
a) Adrenal ultrasound 
b) MRI pituitary
c) ACTH stimulation test 
d) Ultrasound testes
A

b) MRI pituitary

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4
Q

You are seeing a 6 year old girl with a 1 week history of polyuria and polydipsia. She reports a 3 kg weight loss. Her weight is 18 kg. HR and BP are appropriate for age. Random glucose is 22 mmol/L; lytes, creatinine and venous blood gas all normal. Her urine is positive for glucose, 1+ ketones. You suspect new onset diabetes. What is the next step in your management?

a) Perform a confirmatory test with a fasting plasma glucose or 2 hour OGTT
b) Order a diabetes autoantibody panel and insulin level to confirm diabetes diagnosis
c) Start an Intravenous insulin infusion 0.9 units/hr (0.05 units/kg/hour)
d) Start subcutaneous insulin: long acting insulin 4 units od, and rapid insulin 1.5 units prior to meals

A

d) Start subcutaneous insulin: long acting insulin 4 units od, and rapid insulin 1.5 units prior to meals

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5
Q

You are called to the ED to see a 10 year old boy with T1D on an insulin pump. Parents report BG elevated for 24 hours, despite correction doses of insulin. BG is 18 mM, ß-hydroxybutyrate 3 mM. You review the pump settings:
Basal: total daily basal insulin 15 units
Bolus: 1 unit per 8 gm carbohydrate
Total daily dose 40 units
What is your immediate action?
A) Use the insulin pump to give 2 units bolus insulin
B) Start intravenous insulin infusion 0.1 units/kg/hr
C) Discontinue the insulin pump and give rapid insulin 4 units with insulin pen
D) Order lytes and venous gas to establish if DKA is present

A

D) Order lytes and venous gas to establish if DKA is present

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6
Q

A 14 year old girl is referred for evaluation of hyperglycemia. Her height is at the 75th percentile and current BMI is above the 95th percentile. BP and HR are unremarkable. On examination you note acanthosis nigricans. Both parents have type 2 diabetes. Further Investigations are obtained:
Fasting glucose 15 ALT 12
Fasting TG 2.03 LDL-C 3.0
(<6 mmol/L) (0-28 U/L) (<1.42 mmol/L) (<3.54 mmol/L) (4% - 6%)
HbA1c 10.4%
Urine ketones negative
Diabetes autoantibody negative
What is the next step in your management?
a) Lifestyle modification
b) Lifestyle modification and treatment with metformin
c) Lifestyle modification and treatment with insulin and metformin in combination
d) Lifestyle modification and treatment with a sulfonylurea

A

c) Lifestyle modification and treatment with insulin and metformin in combination

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7
Q
You are asked to see a term small for gestational age infant in the nursery. Jittery 24 hours after delivery, with a BG 2.1 mmol/l. BG remained below 2.6 mmol/l with feeds, and IV 10% dextrose containing solution is started.
At 72 hours of age, BG 1.8 mM and a critical blood sample is obtained.
 Results of Critical Blood Sample:
• Glucose 1.8 mmol/L
• Cortisol 724 nmol/L
• Growth Hormone 19.8 ug/L
• Insulin 60 pmol
• ß-hydroxybutyrate 0.1
• Free fatty acids 135
(<120 pmol/L)
(0 – 0.3 mmol/L) (145-900 umol/L)
• pH, lactate, carnitine and acylcarnitine, urine amino acids and reducing substance all normal
What is the most likely diagnosis?
a) Congenital hypopituitarism
b) Growth hormone deficiency
c) Neonatal hyperinsulinemic hypoglycemia
d) Fatty acid oxidation defect
A

c) Neonatal hyperinsulinemic hypoglycemia

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8
Q

You are asked to see a 15 year old boy with hyponatremia. He describes headache and mild nausea developing over the past 2 weeks. No vomiting or diarrhea. HR 72/min, BP 115/75. Weight and Height at the 50th percentile. Physical examination is unremarkable. Glucose random 4.5, Sodium 122, Potassium 4.1, Serum osmolality 250, BUN 2.4, Creatinine 68.
Urinalysis: sg 1.015, osmolality 625 mOsm, sodium 85 mmol, potassium 40 mmol

What is the most likely diagnosis?

a) Cerebral salt wasting
b) SIADH
c) Psychogenic polydipsia
d) Diuretics

A

b) SIADH

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9
Q

A 3.2 kg infant is born to a 28 year old mother at 41 weeks gestation. Parents are first cousins. The child is noted to have atypical genital development. The phallus length is 1.5 cm. There is partial fusion of the labial scrotal folds with bilateral palpable gonads. QF-PCR confirms the presence of a Y chromosome.
A pediatric consultation is requested.
What investigation would most likely inform your suspected diagnosis?
a) Gonadal biopsy
b) Testosterone and dihydrotestoserone
c) Maternal serum androgen profile
d) 17 hydroxyprogesterone

A

b) Testosterone and dihydrotestoserone

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10
Q

You are called by the newborn provincial screening program with the results of a positive newborn TSH screen of 230 IU/L.
The infant is now day of life 7. Birth weight and length at the 50%ile. Physical examination reveals a well appearing infant.
What is the next step in your management ?
a) Repeat TSH with free T4 and follow up in 1-2 weeks
b) Repeat TSH with free T4 and thyroid antibodies
c) Repeat TSH with free T4 and pituitary hormone panel
d) Repeat TSH with free T4 and start treatment with levothyroxine

A

d) Repeat TSH with free T4 and start treatment with levothyroxine

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11
Q

You are asked to see a 14 year old girl with poor school performance. She is easily distracted and has difficulty concentrating. She describes a 5 kg weight loss over 4 months. On examination you note a BP 115/65, HR 82/min. The thyroid is smooth, non tender, and diffusely enlarged.
TSH < 0.01
Free T4 55
Total T3 12
TRAb 52
AST 46
ALT 28
Hg 111 g/L, Plt 357, WBC 7.2, normal differential
What is the next step in your management?
A) Start treatment with methimazole
B) Start treatment with propylthiouracil (PTU)
C) Schedule radioactive iodine therapy
D) Schedule a thyroidectomy

A

A) Start treatment with methimazole

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12
Q

A 14 year old boy with chronic asthma has been treated with high dose inhaled corticosteroid for several years. Recently, his asthma improved and medications were discontinued. You are counseling the patient regarding adrenal insufficiency during intercurrent stress due to illness, trauma or surgery. Regarding Adrenal Suppression in children, the correct response is

a) Long term corticosteroid use is rarely associated with adrenal insufficiency
b) Initial screening on suspicion of AI should include an early morning serum cortisol
c) Stress corticosteroid doses should be provided until 4 weeks after discontinuation of therapy
d) Rapidly discontinuing the glucocorticoid dose will facilitate recovery of the HPA axis

A

b) Initial screening on suspicion of AI should include an early morning serum cortisol

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13
Q
You are asked to see a 4 year old boy with intermittent numbness of his extremities. He had one episode of generalized tonic clonic seizure 6 months ago. He has a global developmental delay and a repaired VSD. Investigations are reviewed:
Total serum calcium 1.9 
Albumin 40
Phosphate 2.5
Alk phos 214
PTH 0.6
Mg 0.8
25 OH vit D 55 
Normal renal function

What is the next step in your management?

a) Oral calcium supplement and calcitriol 0.25 mcg daily
b) Vitamin D 2000-5000 IU daily
c) IV 10% calcium, 0.5-2ml/kg over 20mins
d) Oral phosphate supplement

A

a) Oral calcium supplement and calcitriol 0.25 mcg daily

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14
Q

You are asked to see a 13 year old girl for assessment of recurrent fractures. She fractured her right humerus when she fell off her bike 2 years prior and her left distal radius when she was tobogganing 1 year ago. 6 months ago she was diagnosed with a compression fracture of T7 vertebra after riding a rollercoster. Height is at the 25th percentile and BMI is at the 3rd percentile. SMR II breast and pubic hair, remainder of physical examination unremarkable. DXA BMD: Z-score for Lumbar spine is -2.2, Z-score for Total body less head is -1.8
What is the next step in your management?
A) Transiliac bone biopsy
B) Type 1 collagen mutation analysis
C) Investigate undiagnosed calcium, phosphate, or Vitamin D deficiency
D) Reassurance and follow up in 6 months

A

C) Investigate undiagnosed calcium, phosphate, or Vitamin D deficiency

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