[Identification of congenital adrenal hyperplasia by measurement of blood-spot 17-hydroxyprogesterone]. / Congenitalis adrenalis hyperplasia azonosítása vérfolt-17-hidroxiprogeszteron mérésével

UNLABELLED: Identification of congenital adrenal hyperplasia by measurement of blood-spot 17-hydroxyprogesterone. INTRODUCTION: 21-hydroxylase deficiency (21-OHD) is the most common cause of congenital adrenal hyperplasia (CAH). The simplest way to diagnose the disease is the measurement of 17-hydroxyprogesterone level in the serum. AIMS: The aim of the study was to analyze the clinical advantages of a centralized diagnostic strategy in Hungary using measurement of 17-hydroxyprogesterone in dried blood spots. METHODS: During a 20 years period blood-spot samples of 1837 patients suspected to have CAH have been investigated. RESULTS: 185 patients proved to have CAH (classic 21-OHD 155; NCAH 27; 11beta-OHD 3 patients). A national database for CAH was set up by collecting further information about CAH patients in the country. Based on the frequency of the disease in girls during the nineties, the incidence of classical 21-OHD was calculated to be 1:11,147 in Hungary. CONCLUSIONS: Early diagnosis, optimal medical and surgical treatment, and attention to compliance may lead to further decrease in morbidity and mortality of CAH patients.

[Psychiatric expert opinions on asylum seekers in Germany]. / Psychiatrische Begutachtung im Asylverfahren.

OBJECTIVE: To investigate the frequency of traumatisation, suicidality and given diagnoses in expert opinions on asylum seekers and to describe the sociodemographic characteristics of this population. METHODS: The psychiatric expert opinions on asylum seekers, furnished in an 8-year-period at Hannover Medical School, were analysed retrospectively for qualitative and quantitative characteristics. RESULTS: 62 psychiatric expert opinions on asylum seekers were included in this study. The asylum seekers originated from 18 different countries, mainly from Turkey and former Yugoslavia. Most expert opinions were given in secondary asylum procedures, i. e. after the initial asylum request had been rejected. The asylum seekers reported on traumatisation in 82.3 %. The most frequently reported forms of traumatisation were rape in female, and torture in male persons. According to ICD-10 or DSM-IV-R criteria posttraumatic stress disorder (PTSD) was the most frequent diagnosis (74.1 %) in this study. The second most common diagnoses were depressive disorders (ICD-10: F32.x in 33.9 % and ICD-10: F33.x in 25.9 %). Suicidal tendency was found in 56.5 % of the asylum seekers. CONCLUSIONS: Cultural differences, language barriers, a heavy burden by psychological symptoms, and clinical severity are difficulties in the process of psychiatric assessment of refugees in legal asylum procedures.

Twenty years experience in rapid identification of congenital adrenal hyperplasia in Hungary.

UNLABELLED: The aim of this study was to assess the effectivity of the identification of patients with congenital adrenal hyperplasia (CAH) in Hungary in the absence of systematic neonatal screening and to estimate the incidence. Dried blood-spot samples of patients clinically suspected at any age to have CAH were collected between 1978 and 1998 throughout the whole country. 17-Hydroxyprogesterone (17-OHP) was measured by radioimmunoassay. Age-specific cut-offs were used. The effectivity of the system was retrospectively assessed. Additional cases were sought to assess the overall incidence of CAH in Hungary. Among the 1,837 patients investigated, 185 cases of CAH were identified. The overall effectivity was 94.7%. The sensitivity and the specificity were 98.9% and 94.2%, respectively. Salt-wasting (SW) boys were, on average, diagnosed 2 weeks later than SW girls, while both boys and girls with the simple virilising (SV) form were diagnosed at similar ages (2 versus 2.5 years). An additional 19 cases were diagnosed during the study period using other methods (plasma and urinary steroid profiles without blood-spot 17-OHP measurements). The incidence of classical CAH in Hungary was 1:14,300 (CI 95% between 1:12,450 and 1:16,795). Presuming that the incidence of CAH is the same among boys and girls, one can calculate that the diagnosis was missed in 24 boys (2 SW, 22 SV). CONCLUSION: it is possible to identify the vast majority of classical cases of congenital adrenal hyperplasia without a neonatal mass screening programme. However, a significant number of boys with the simple virilising form missed whereas both salt-wasting boys and girls are diagnosed safely.