Lessons from 30 years of clinical diagnosis and treatment of congenital adrenal hyperplasia in five middle European countries

Despite the fact that congenital adrenal hyperplasia (CAH) is one of the mo st common inborn endocrine disorders,. some patients are not identified, or may even die, in an acute salt-losing crisis. In a retrospective study cov ering the last 30 yr, we examined the time elapsing before diagnosis of CAH patients, in 5 Middle European countries, and the mortality rate in diagno sed patients and their siblings during childhood; we also attempted to esti mate how many patients are not diagnosed clinically each year. Basic and follow-up clinical data and the family histories of 484 patients with classical forms of CAH diagnosed between 1969 and 1998 mere collected and recorded in 5 Middle European countries. The sex-ratio, time elapsing b efore diagnosis, and mortality among siblings and patients were calculated, and the number of undiagnosed patients was estimated. We found significantly fewer genetic males (43.0%) than females (57.0%) amo ng 484 classic CAH patients, and the percentage of diagnosed boys did not i ncrease with time; 64.7% of them suffered from the salt-wasting (SW) from, and 35.3% hom the simple virilizing (SV) form, of the disease. The diagnosi s of CAH was established significantly later in males than in females in bo th forms [SW: 26 vs. 13 days (median), P < 0.0001; SV: 5.0 us. 2.8 yr, P = 0.03]. Infant mortality in the general population was significantly lower t han in either siblings (1.8% vs. 7.0%; P < 0.0001) or in SW (2.29% vs. 11.3 %; P < 0.0001). According to our calculations, by our current praxis of cli nical ascertainment, 2-2.5 SW and up to 5 SV stay undiagnosed, out of 40 ex pected CAH patients, per year in the countries investigated. Both clinical detection and treatment of CAR patients, at least in males, mere insufficie nt in the five Middle European countries examined during the last 30 yr. Ne onatal mass screening and/or greater awareness of the medical community are discussed as ways of improving the efficacy of CAH management. Our experie nce may be applicable to other countries with similar health care systems.