گزارش 433 مورد بيمار مبتلا به هيپرپلازي مادرزادي آدرنان

A review of 433 patients with congenital adrenal hyperplasia

Introduction: Congenital adrenal hyperplasia (CAH) is due to a group of enzymatic defects in the synthesis of cortisol from cholesterol. To review all the files, patients with CAH who were referred to us between 1968 to 2001 were studied. Material and method: Diagnosis was based on measurement of 24-hour urine 17 ketosteroids and pregnanetriol, 17 hydroxycorticosteroids (Porter Silber method). Thereafter it made using the assessment of serum 170H-progesterone, serum cortisol, ACTH, aldosterone, Plasma renin activity, dehydroepiandrosterone sulfate and androstenedione by radioimmunoassay method. Results: Of 433 patients (270 girls, 163 boys), 347 (80.1%) (226 girls, 121 boys) were diagnosed as having 21 hydrpxylase deficiency (21OHD); 260 (75%) were salt waster, 76 (22%) had simple virilizing and 11 girls (3%) had late onset type. Sixty-three (14.5%) had 11 hydroxylase deficiencie, 11 (2.5%) had 3Beta hydroxysteroid dehydrogenase deficiency, 3 (0.7%) lipoid adrenal hyperplasia, 5 girls (1.2%) 17-hydroxylase deficiency and 4 patients (0.9%) had hyperreninemic hypoaldosteronism. Parental consanguinity was reported in 134 (61%) of 218. Family occurrence was noticed in 79 (43%) of 184 patients. Twenty-one of 85 patients had no virilization, 11 had grade 5 of Prader staging. Three patients with grade 4 virilism had normal electrolytes and high PRA, compatible with simple virilizing type of 21OHD. Two patients have had pregnancy. Final Height (FH) was 184 cm in the affected boys and 168 cm in the girls. Mortality rate reduced from 10% in 1985 to 1% thereafter, mostly due to providing guidelines for stress confrontation, to the patients. Conclusion: The most common type of CAH is tilt salt wasting type of 21OHD. FH became completely normal with good control of the disease and the mortality rate decreased after giving stress guidelines to the parents.