Congenital Adrenal Hyperplasia

Congenital Adrenal Hyperplasia

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Cholesterol

StAR 17OHlase 17,20lyase

Pregnenolone 17 OH pregnenolone DHEA

3βHSD 17OHlase 3βHSD 17,20lyase 3βHSD

Progesterone 17 OH progesterone andrestendione

21OHlase 21 OH lase

DOC 11 deoxycortisol

11OHlase 11OHlase

Corticosterone cortisol

aldosterone

• 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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