pediatric endocrine osce
DESCRIPTION
osce in pediatrics to pass DNBTRANSCRIPT
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O.S.C.E.
ENDOCRINOLOGY
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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.
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A. How will you proceed?
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1. X-ray to assess bone age
2. 17 hydroxyprogesterone
Dihydroepiandrosterone sulfate
FSH, LH,Testesterone
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1. Bone age 8 years
2. DHEAS, 17 OHP – Normal
3. FSH, LH – Pre-pubertal
What is the diagnosis?
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Premature adrenarche. This term applies to the appearance of sexual hair before the age of 8 yr in girls or 9 yr in boys without
other evidence of maturation
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C. How will you differentiate from congenital adrenal hyperplasia?
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• ACTH stimulation.
• 17-OHP will increase more than 4 fold in CAH
• 17-OHP will increase marginally in premature adrenarche
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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.
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A. What do you think?
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• Delayed puberty
• Coarctation of aorta
? Turner syndrome
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B. How will you work up?
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1. Bone age – will be delayed
2. FSH, LH
3. Karyotype – 45 XO
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C. How will you treat?
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1. Hormone replacement
2. Growth hormone if presents early
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D. What are the indications of Growth hormone therapy ?
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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
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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 %.
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What is your diagnosis?
What is the most common cause of short stature?
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• Constitutional delay of growth
• 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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What is the diagnosis?
Why could be the life-threatening event?
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• CAH
• It leads to adrenal crisis.
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2. What is the most common cause of CAH?
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• 21 – hydroxylase deficiency
• It is also the most common cause of ambiguous genitalia.
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3. State other hormone deficiencies of CAH.
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1.11 – β hydroxylase deficiency
2.17 hydroxylase deficiency
3.3β – hydroxysteroid dehydrogenase def
4.Lipoid adrenal hyperplasia
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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.
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1. What are normal values?
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• 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
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2. What are diagnostic possibilities?
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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
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3. What is next step?
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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
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CASE VI
A 16 year old girl is noted to have thyroid enlargement and ↑ T4.
1. What are the diagnostic possibilities?
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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.
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2. What are the common symptoms of Grave’s disease?
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• Behaviour changes
• Poor grades
• Bad handwriting
• Mood swings
• Fatigue
• Insomnia
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3. How will you diagnose?
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• TSH, total T3, T4, freeT4
• TSH receptor antibodies
• Antithyroid antibodies
• Radioiodine uptake
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4. What is the treatment?
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• Antithyroid drugs
• Radioablation
• Surgery