OSCE PEDIATRICS
ENDOCRINOLOGY
www.dnbpediatrics.com
CASE I
A seven year old boy presents with six
month history of pubic hair. Physical
examination reveals a healthy appearin...
CASE I CONT….
A. How will you proceed?
www.dnbpediatrics.com
CASE I CONT….
1. X-ray to assess bone age
2. 17 hydroxyprogesterone
Dihydroepiandrosterone sulfate
FSH, LH,Testesterone
ww...
CASE I CONT….
1. Bone age 8 years
2. DHEAS, 17 OHP – Normal
3. FSH, LH – Pre-pubertal
What is the diagnosis?
www.dnbpediat...
CASE I CONT….
Premature adrenarche.
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CASE I CONT….
C. How will you differentiate from congenital
adrenal hyperplasia?
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CASE I CONT….
• ACTH stimulation.
• 17-OHP will increase more than 4 fold
in CAH
• 17-OHP will increase marginally in
prem...
CASE II
A 14 year old girl presents with
1. Ht < 3rd cent
2. No breast development
3. Slight amount of pubic hair
h/o corr...
CASE IICONT….
A. What do you think?
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CASE II CONT….
Delayed puberty
Coarctation of aorta
? Turner syndrome
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CASE II CONT….
B. How will you work up?
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CASE II CONT….
1. Bone age – will be delayed
2. FSH, LH
3. Karyotype – 45 XO
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CASE II CONT….
C. How will you treat?
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CASE II CONT….
1. Hormone replacement
2. Growth hormone if presents early
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CASE II CONT….
D. What are the indications of Growth
hormone therapy ?
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CASE II CONT….
1. GHD-Hypothalamic-pituitary disease
2. Idiopathic short stature < -2.25 SD
3. Chronic renal failure befor...
CASE III
A 11 year old girl presents for a routine
physical examination
1. Height 3rd centile; Weight 5th centile
2. Mothe...
CONT….
1. What is your diagnosis?
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CONT….
• Constitutional delay of growth
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CONT….
2. What is the most common cause of short
stature?
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CONT….
• Familial short stature
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CASE IV
A newborn infant was found to have bilateral
cryptorchidism and proximal hypospadias.
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CONT….
What is the diagnosis?
Why could be the life-threatening event?
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CONT….
• CAH
• It leads to adrenal crisis.
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CONT….
2. What is the most common cause of CAH?
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CONT….
• 21 – hydroxylase deficiency
• It is also the most common cause of
ambiguous genitalia.
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CONT….
3. State other hormone deficiencies of CAH.
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CONT….
1.11 – β hydroxylase deficiency
2.17 hydroxylase deficiency
3.3β – hydroxysteroid dehydrogenase def
4.Lipoid adrena...
CASE V
A 28 wk gestation, 950 gm, male infant is
noted to have T4 of 4.2ug/dL and TSH of
20.6uU/mL at 2 weeks of age. Ther...
CONT….
1. What are normal values?
www.dnbpediatrics.com
CONT….
• T4 6.0 – 16.0 uG/dL after 1 week
• TSH 0.5 – 5 uU/mL in term infant
• 25% of premature <25 weeks T4<6.5uG/dL
• 50...
CONT….
2. What are diagnostic possibilities?
www.dnbpediatrics.com
1. Thyroid dysgenesis
2. Dyshormonogenesis
3. Transient hypothyroxemia (hypoplastic
immaturity of prematurity – low T4, N
...
CONT….
3. What is next step?
www.dnbpediatrics.com
1. Obtain serum levels of free T4 and free
TSH.
2. If free T4 is low – therapy for 4-6 weeks
3. If free T4 – normal, no th...
CASE VI
A 16 year old girl is noted to have thyroid
enlargement and ↑ T4.
1. What are the diagnostic possibilities?
www.dn...
CASE VI CONT….
1. Grave’s disease
2. Thyroiditis – toxic – Hashimoto’s disease
subacute thyroiditis
3. TSH induced hyperth...
CASE VI CONT….
2. What are the common symptoms of
Grave’s disease?
www.dnbpediatrics.com
CASE VI CONT….
• Behaviour changes
• Poor grades
• Bad handwriting
• Mood swings
• Fatigue
• Insomnia
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CASE VI CONT….
3. How will you diagnose?
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CASE VI CONT….
• TSH, total T3, T4, freeT4
• TSH receptor antibodies
• Antithyroid antibodies
• Radioiodine uptake
www.dnb...
CASE VI CONT….
4. What is the treatment?
www.dnbpediatrics.com
CASE VI CONT….
• Antithyroid drugs
• Radioablation
• Surgery
www.dnbpediatrics.com
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  1. 1. OSCE PEDIATRICS ENDOCRINOLOGY www.dnbpediatrics.com
  2. 2. CASE I A seven year old boy presents with six month history of pubic hair. Physical examination reveals a healthy appearing boy with facial acne and slight amount of pubic hair. Testes measures 2cm bilaterally. www.dnbpediatrics.com
  3. 3. CASE I CONT…. A. How will you proceed? www.dnbpediatrics.com
  4. 4. CASE I CONT…. 1. X-ray to assess bone age 2. 17 hydroxyprogesterone Dihydroepiandrosterone sulfate FSH, LH,Testesterone www.dnbpediatrics.com
  5. 5. CASE I CONT…. 1. Bone age 8 years 2. DHEAS, 17 OHP – Normal 3. FSH, LH – Pre-pubertal What is the diagnosis? www.dnbpediatrics.com
  6. 6. CASE I CONT…. Premature adrenarche. www.dnbpediatrics.com
  7. 7. CASE I CONT…. C. How will you differentiate from congenital adrenal hyperplasia? www.dnbpediatrics.com
  8. 8. CASE I CONT…. • ACTH stimulation. • 17-OHP will increase more than 4 fold in CAH • 17-OHP will increase marginally in premature adrenarche www.dnbpediatrics.com
  9. 9. CASE II A 14 year old girl presents with 1. Ht < 3rd cent 2. No breast development 3. Slight amount of pubic hair h/o corrective surgery for coarctation of aorta at 2 year of age. www.dnbpediatrics.com
  10. 10. CASE IICONT…. A. What do you think? www.dnbpediatrics.com
  11. 11. CASE II CONT…. Delayed puberty Coarctation of aorta ? Turner syndrome www.dnbpediatrics.com
  12. 12. CASE II CONT…. B. How will you work up? www.dnbpediatrics.com
  13. 13. CASE II CONT…. 1. Bone age – will be delayed 2. FSH, LH 3. Karyotype – 45 XO www.dnbpediatrics.com
  14. 14. CASE II CONT…. C. How will you treat? www.dnbpediatrics.com
  15. 15. CASE II CONT…. 1. Hormone replacement 2. Growth hormone if presents early www.dnbpediatrics.com
  16. 16. CASE II CONT…. D. What are the indications of Growth hormone therapy ? www.dnbpediatrics.com
  17. 17. CASE II CONT…. 1. GHD-Hypothalamic-pituitary disease 2. Idiopathic short stature < -2.25 SD 3. Chronic renal failure before transplant 4. IUGR babies not catching up growth by 2 years 5. Turner syndrome, Prader Willi syndrome www.dnbpediatrics.com
  18. 18. CASE III A 11 year old girl presents for a routine physical examination 1. Height 3rd centile; Weight 5th centile 2. Mother 4’11” Father 5’4” 3. Girl’s wt and ht were at 40th % at birth and slowly dropped to current % by 18 months and continued to grow along 3rd to 5th %. www.dnbpediatrics.com
  19. 19. CONT…. 1. What is your diagnosis? www.dnbpediatrics.com
  20. 20. CONT…. • Constitutional delay of growth www.dnbpediatrics.com
  21. 21. CONT…. 2. What is the most common cause of short stature? www.dnbpediatrics.com
  22. 22. CONT…. • Familial short stature www.dnbpediatrics.com
  23. 23. CASE IV A newborn infant was found to have bilateral cryptorchidism and proximal hypospadias. www.dnbpediatrics.com
  24. 24. CONT…. What is the diagnosis? Why could be the life-threatening event? www.dnbpediatrics.com
  25. 25. CONT…. • CAH • It leads to adrenal crisis. www.dnbpediatrics.com
  26. 26. CONT…. 2. What is the most common cause of CAH? www.dnbpediatrics.com
  27. 27. CONT…. • 21 – hydroxylase deficiency • It is also the most common cause of ambiguous genitalia. www.dnbpediatrics.com
  28. 28. CONT…. 3. State other hormone deficiencies of CAH. www.dnbpediatrics.com
  29. 29. CONT…. 1.11 – β hydroxylase deficiency 2.17 hydroxylase deficiency 3.3β – hydroxysteroid dehydrogenase def 4.Lipoid adrenal hyperplasia www.dnbpediatrics.com
  30. 30. CASE V A 28 wk gestation, 950 gm, male infant is noted to have T4 of 4.2ug/dL and TSH of 20.6uU/mL at 2 weeks of age. There are no symptoms suggestive of congenital hypothyroidism. www.dnbpediatrics.com
  31. 31. CONT…. 1. What are normal values? www.dnbpediatrics.com
  32. 32. CONT…. • T4 6.0 – 16.0 uG/dL after 1 week • TSH 0.5 – 5 uU/mL in term infant • 25% of premature <25 weeks T4<6.5uG/dL • 50% of premature <30 weeks T4<6.5uG/dL • T4 of 6 or < must be further investigated www.dnbpediatrics.com
  33. 33. CONT…. 2. What are diagnostic possibilities? www.dnbpediatrics.com
  34. 34. 1. Thyroid dysgenesis 2. Dyshormonogenesis 3. Transient hypothyroxemia (hypoplastic immaturity of prematurity – low T4, N TSH, no therapy) 4. Transient hypothyroidism (temporary I2 deficiency, use of iodides. Low T4, therapy indicated) 5. TBG deficiency www.dnbpediatrics.com
  35. 35. CONT…. 3. What is next step? www.dnbpediatrics.com
  36. 36. 1. Obtain serum levels of free T4 and free TSH. 2. If free T4 is low – therapy for 4-6 weeks 3. If free T4 – normal, no therapy 4. Thyroid scan – aplasia vs. hypolplasia www.dnbpediatrics.com
  37. 37. CASE VI A 16 year old girl is noted to have thyroid enlargement and ↑ T4. 1. What are the diagnostic possibilities? www.dnbpediatrics.com
  38. 38. CASE VI CONT…. 1. Grave’s disease 2. Thyroiditis – toxic – Hashimoto’s disease subacute thyroiditis 3. TSH induced hyperthyroidism Pituitary adenoma 4. Autonomous functioning nodule McCune Albright syndrome. www.dnbpediatrics.com
  39. 39. CASE VI CONT…. 2. What are the common symptoms of Grave’s disease? www.dnbpediatrics.com
  40. 40. CASE VI CONT…. • Behaviour changes • Poor grades • Bad handwriting • Mood swings • Fatigue • Insomnia www.dnbpediatrics.com
  41. 41. CASE VI CONT…. 3. How will you diagnose? www.dnbpediatrics.com
  42. 42. CASE VI CONT…. • TSH, total T3, T4, freeT4 • TSH receptor antibodies • Antithyroid antibodies • Radioiodine uptake www.dnbpediatrics.com
  43. 43. CASE VI CONT…. 4. What is the treatment? www.dnbpediatrics.com
  44. 44. CASE VI CONT…. • Antithyroid drugs • Radioablation • Surgery www.dnbpediatrics.com
  45. 45. www.dnbpediatrics.com

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