استقصاء الإصابة بفرط تنسج الكظر الخلقي الناتج عن عوز 21 هيدروكسيلاز لدى الأطفال و الولدان في مستشفى الأطفال الجامعي في دمشق

الملخص EN

Congenital adrenal hyperplasia (CAH) is a group of disorders that results from an enzyme defect in the biosynthetic pathway of the adrenal corticosteroids from their precursor (cholesterol).

21 hydroxylase deficiency is the most common deficiency.

It causes salt wasting crises that may be lethal, and virillization to the external genitalia, as it is considered the most common cause of ambiguous genitalia in females.

Early detection and treatment is essential to avoid death in salt wasting patients and reduce the time of incorrect gender assignment in females.

We aim through this study to collect more information about CAH and its frequency in Syria, due to the absence of any published statistics regarding it in our country, by investigating 21 hydroxylase deficiency in suspected children and newborns admitted at the university children’s hospital in Damascus.

The study was performed on children and newborns suspected of having congenital adrenal hyperplasia, due to 21 hydroxylase deficiency based on their symptoms and laboratory findings, or the presence of a family history for this disease, and were admitted in the university children’s hospital in Damascus, between 20/5/2013 and 28/9/2013, by taking whole blood samples from the heel or finger on filter paper and measuring 17 hydroxy progesterone concentration, by dissociation-enhanced lanthanide fluorescent immunoassay (DELFIA) technique, using DELFIA neonatal 17α-OH-progesterone manufactured by PerkinElmer Wallac, Oy, Turku, Finland using Fluorometery victor wallac 14200 multilable counter.

The number of children who had signs, symptoms and unspecific laboratory test results indicative for CAH, during the study period was 11, 17OHP was elevated in 4 of them.

One had the salt wasting type and 3 had the simple virilizing type.

Wrong gender assignment was present in 2 cases and a history of previous hospitalization, or doctor visits without being diagnosed, was present in 2 cases too.

All cases responded well to the treatment.

As Conclusion, congenital adrenal hyperplasia is a rare disorder, but has serious consequences if not treated.

Detection in the right time reduces the mortality and morbidity.

So we recommend performing a study that provides the exact prevalence for this disorder in Syria, to evaluate the necessity for establishing a newborn screening program which insures its early detection.