Transcript What do you recommend as paraclinical w/u?

Congenital Adrenal
Hyperplasia
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Cholesterol
StAR
17OHlase
Pregnenolone
3βHSD
3βHSD
Progesterone
21OHlase
DOC
11OHlase
Corticosterone
17,20lyase
17 OH pregnenolone
17OHlase
3βHSD
DHEA
17,20lyase
17 OH progesterone
andrestendione
21 OH lase
11 deoxycortisol
11OHlase
cortisol
aldosterone
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• A 50 days infant brought to emergency ward
due to severe dehydration. He has history of
vomiting. Weight gaining is poor.
• P/E: signs of dehydration,mild
hyperpigmentation in nipples and scrotum.
• Lab data: BUN,50mg/dl; cr, 2 mg/dl; Na,123
mEq/l; k, 7 mEq/l.
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• What is the most probable diagnosis?
• What are the DDx?
• What do you recommend to do as
paraclinical w/u?
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• Cortisol, 2 μg/dl
• 17OHP, 30 ng/ml
• DHEAS, high
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• What do you order to manage this patient?
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• IV hydration with N/S and dextrose, 1-1.5
times of maintenance.
• IV hydrocortisone, 100 mg/m2 ,and then 100
mg/m2 /24h:q6h
• Fludrocortisone,0.05 – 0.3 mg/day
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• When do you discharge the patient?
• What is the recommendations on discharge?
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Hydrocortisone,10 – 20 mg/m2 ,po.
Fludrocortisone, 0.05-0.3 mg/day.
NaCl, 1-3 gr or 17 – 50 mEq/day.
Measurement of stature,weight,BP every 3
months.
Na,K,17OHP every 3 to 6 months.
Kidney sonography.
Surgery.
Management during illness.
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• 1 y/o boy brought to your clinic due to
growing of pubic hair.
• What is important in history and P/E?
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• Family history, drug history.
• Texture of hair.
• Size of testes and penis.
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• Hair is coarse and dark; testis has 2 ml
volume; size of penis is mildly increased.
• What are the DDx?
• What do you recommend as paraclinical
w/u?
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• Na,K,BUN and Cr are in normal range.
• 17OHP, 8 ng/ml.
• Bone age?
• What do you decide now?
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• ACTH test for 17OHP.
• What is the treatment?
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• Hydrocortisone.
• How do you follow up this patient?
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• A 7 y/o girl referred to clinic with worrisome
about puberty. Her mother says about pubic
hair, acne and sweat odor.
• How do you approach to the patient?
• What are the DDX?
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• Isolated premature adrenarche.
• Late onset CAH.
• Drugs( especially in boys).
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• A couple referred to you because of deciding
to have a new pregnancy. They have a boy
with CAH,21 hydroxylase deficiency.
• What do you recommend to them?
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Thank you
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