CAH any ansewers for this problem
Jan. 16th, 2004   7:08am

My son Wasim is a 2 years old child, he is the son of first degree healthy cousins, and has a healthy brother.

He was born after a full term pregnancy and delivery. His birth weight was 3400 gr.

At the age of 2 weeks he was admitted to the hospital and was diagnosed with congenital adrenal hyperplasia.

Since than he was treated with Hydrocortisone and Florinef.

At june 2003 at the age of 21 months his weight was 9.2 kg (<<3rd percentile) and his hight was 76 cm (<<3rd percentile).

The main problems at that time were:

1. Severe failure to thrive

His weight and height were below the third percentile.

He was not standing by himself.

Physical examination was within normal limits. No macropenis, or pubic hair.

His body surface area was calculated 0.5 mē, at that time Hydrocortisone dose was 10 mg/day.

Therefore his Hydrocortisone dose was decreased to 5 mg/day (15 mg/d/BSA).

In addition NaCl (1-2 gr/day) was added to his meals.

Florinef 0.10mg daily was continued.

Enriched formula, with polycose was prescribed.

Over the last 6 months he gained weight and currently weights 11.2 kg (3rd percentile).

He grew only 4 cm in 6 months.

His strength seems to improve and he started to walk.

Currently his medication include:

Hydrocortisone 2.5 mg X 3 day (based on 15 mg/mē/day).

Florinef 0.1 mg X 2 day.

Ferripe.

NaCl.

2. Congenital adrenal hyperplasis

His testosterone levels was 0.3 micg/l (0.9 nmo/l).

17 hydroxyprogesterone, >75 micg/l.

DHEAS <0/3 mg/l.

Androstendione 1.2 mic/l.

Renin 20-33 ng/ml (normal range 0-1.5).

Aldosterone 27 ng/ml (normal rate 3-10).

For me as father and also for his doctor the clinical picture of elevated 17 OHP with normal testosterone and normal androstendione levels, without accelerated growth or masculinization is not clear.

Also the elevated Aldosterone level is not consistent with 21 OH def and salt wasting.

So please any ansewers for this problem.

PS: We will repeat these tests. DNA was sent for genetic studies.

 

Tubail
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